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My chromosome 18 count recently came back as abnormal, and the Dr. said there is a 25% chance that my baby may have Trisomy 18. How often do the chromosome tests come back as abnormal, or are they usually correct? View Answer |
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We have recently visited a gynecologist, and had a routine Downs test done. It was indicated that although the Downs was 5000/1( successful), they detected Trysome 18. It was explained that the blood tests done are not always accurate (70-80%), the ratio of this condition being a reality was 98/1. We are now going for an Amniothesis to determine the accuracy.
My question is....should we be worried, and prepare ourselves for the worst, considering the ratios? View Answer |
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2009-10-09 |
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Hello,
I just got a call with my doctor telling me that my blod work came with a 8-10% of chance that my child (I am about 15 weeks pregnant) has Edwards Syndrome. I have 3 healthy kids (7,5 and 1 years old) and I am 36 and 5 months years old. Should I go with the amniocentesis or just trust on my 90% of a healthy child again? What is your opinion or advice?
Thanks a lot. View Answer |
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2009-09-28 |
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I am 39 years old and 19 weeks pregnant with identical twin girls. After a quad screen, my chances of having a child with downs syndrome was 1 in 750. However, at last ultrasound at specialist's office, there were no markers found except a bright spot on only one of the twin's heart, which changed my chances to 1 in 420. What is the significance of the bright spot when it only shows up on the heart of one of the identical twins? View Answer |
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2009-09-25 |
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The father has type 1 OI his grandfather has the disease, the mother is not affected How safe/ secure is the PGD and in vitro fertilization process " embryo analysis " When they remove the cell at the 8 cell stage can this affect the fetus en any way? Do they follow up on children that went through this process? View Answer |
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2009-09-22 |
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I am 25 years old and pregnant with my first child. On friday I had a routine Level 2 ultrasound at 20 weeks 1 day. The perinatologist who performed the ultrasound was concerned when my daughter's nuchal skin fold measured 5 mm. He said that this put me in the at risk category for down syndrome. Since friday, I have done a lot of research on this, and have found a lot research that contradicts what the doctor told me. My ob suggested that I have an amino or another ultrasound in 6 weeks. I am afraid to risk the amino since a small risk for a miscarriage is present. Please give me any insight you may have on this.
I would be grateful--I can not stop thinking/worrying about this. View Answer |
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2009-08-03 |
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I am 17 weeks pregnant. My quad screen came back abnormal with a 1 in 54 chance of having a baby with Trisomy 18. I had an ultra sound and they found a choroid plexus cyst that is usually associated with Trisomy 18. I now have a 1 in 24 chance of having a baby with T18. Have you ever heard of any cases where there were findings in a blood test and ultra sound and the baby turned out o.k.? View Answer |
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2009-07-18 |
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Hello,
I am 36 years old and 19 weeks pregnant. I have my first trimester screening done. The nuchal fold was 1.9 mm. With the blood work results and the nuchal fold measurement, the chances of Downs is 1/1500. At 17 weeks, I had a level two ultrasound. They found an echogenic focus on the heart and the umbilical cord is a 2 vessel system instead of a 3. The doctor reassured me that the baby is developing normally and that everything is fine. The organs and the fingers looked normal. Would these two results give me a higher chance of a Downs baby? Thank you! I appreciate your help. View Answer |
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2009-07-14 |
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I am a quarter of a pregnant couple. haha! I'm in an egg donor program and I was wondering how my blood type works with the egg donation process. I am an O+, so I'm a universal donor in the hema- sense, but how will a recipient take my eggs? Is there any blood type that cannot take my eggs or are they universal like my blood type? I know the RH factor comes into play, where a negative blood type won't want a positive blood-typed fetus more than once...Or is that only for a matched couple with a RH negative egg and a RH positive sperm? View Answer |
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2009-06-25 |
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Can early testing for Down's Syndrome indicate the severity of the condition? What about increasing cerebrospinal fluid levels in the neck? View Answer |
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2009-06-14 |
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I just found out that my 15 week blood test came back positive with Trisomy 18. I have to wait another two weeks before I see another Doctor to get the fetal ultrasound and amio done. The nurse told me that the results were 1:64, does that mean there is a 64% chance that the baby has Trisomy 18. Please answer soon, I have been trying to get as much information as I can about this condition. View Answer |
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2009-05-17 |
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Recently we did PGD with an IVF cycle. Many of the embryos came back as having many abnormalities (several extra or missing chromosomes in each embryo). What is the cause for such "chaotic" embryos?
Thank you! View Answer |
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2009-04-05 |
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My wife just got through her 1st Trimester, and we recieved results for the 2nd part of Trisomy 18. The first test was at 0.5% @ 8 weeks and now the results are at 2.0% @ 12 weeks of the pregnancy. She is 41 Y/O and would be 42 when she delivers. She is a high risk pregnancy. Is this increase significant in comparison to needing a Amniocentisis ? What I mean does this % increase of 1.5% override the possibility of risking a miscarriage due to having to have an Amniocentisis ? The other genetic tests (for Down's Syn & Spina Bifada) were within normal range. Therefore due the risks of having an Amnio out weigh this % increase ? Thankyou for your input. View Answer |
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2009-02-24 |
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I am pregnant and in my 24 week, I was told that the fetus nuchal thickness is of 8,2mm. Nothing else shows or have shown a problem at all (I've been through blood tests, previous scans with ok results, scan of the heart of the baby, etc.). What could this mean since it appears at this moment (not earlier) and is the only marker for a problem? View Answer |
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2009-02-17 |
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Dear Sirs, we are writing to you as, after submitting to an amniocentesis, we had this kind of result:
karyotype analisis from clones highlighted the precence of three cells lines:
73 % karyotype 46, xy (normal)
23 % monosomy of cromosome x
4% karyotype 47, xxy.
they undertook another analysis on two cell cultures trough the FISH method, which gave this result:
culture n.1 (11 clones): 78% xy, 22% x0
culture n.2 (10 clones): 76% xxy, 24% xy
We had different answers and we are really confused on the matter.
We are wondering if you ever had this kind of result before and if you are able to give us a valid answer on the matter.
From the ultrasonography we were told the baby is a male.
What kind of problems during the life could he have?
Thank you very much for your help and we look forward to hearing from you soon. View Answer |
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2009-02-15 |
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My doctor called me and said my blood work came back the down syndrome test was neg, but the Trisomy 18 was positive. She said most cases are 1-100, but mine is 1-96 what does this mean? Will the amniocentesis tell me if the baby has this genetic disorder? View Answer |
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2009-02-14 |
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I am 11 weeks pregnant with Monochorionic twins. I found out at my last ultrasound that one of the twins has a hygroma. I was told to return in 3 weeks to have another ultrasound done to see if the condition is the same or better/worse. My question is...is it even worth waiting the 3 weeks or should I terminate the pregnancy now? They told me that if the twin with the hygroma dies the 2nd twin is at a high risk for some of the same symptoms that come with this disorder because they are sharing a placenta. Please help. View Answer |
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2009-02-11 |
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HI, I AM 31 YEARS OLD ASIAN INDIAN .WE HAVE NO GENETIC DISORDERS IN OUR FAMILY.I HAD IRRUGULAR PERIOD OF 41-45 DAYS .BUT MOST OF MY BLOOD TEST WERE DONE WITH 28 DAY CYCLE IN MIND .MY FIRST BLOOD TEST SAID I WAS 7 WEEKS PREGNANT WHICH IS RIGHT IF YOU GO WITH MY IRREGULAR PERIOD OF 41-45 DAYS, BUT ACCORDING TO MY 28 DAY CYCLE I SHUOLD BE 9 WEEKS .I WENT FOR MY ULTRA SOUND THEY SAID I WAS 17 WEEKS WITH MESURMENTS AGAIN RIGHT IF 41-45 DAY CYCLE ,BUT AGAIN MY DATE WITH MY 28 DAY CYCLE I SHUOLD BE 19 WEEKS SO THEY HAD CONSEARNS .A WEEK BEFORE MY ULTRA SOUND I HAD MY AFP TEST, IN THE RESULTS EVERY THING WAS -VE BUT SCD WAS +ve WITH 1 IN 66 WHAT SHOULD I DO.MY (AFP-0.68),(HCG-0.72), (UE3-0.29).HPOE U CAN HELP ME UNDERSTAND IT BETTER.. WHAT DOES ALL THIS SAY.I TALKED TO A GENETIC COUNSELING IT DIN'T HELP ME MUCH.SHE JUST WENT WITH THE TEST RESULTS AND THE 28 DAY CYCLE THING WHICH WAS ON THE PAPER .SHE SAID ONLY HELP SHE CAN GIVE IS AFTER THE AMNIOCENTESIS .REPLY SOON
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2009-02-06 |
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sir,
i am a 31-year-old Indian with an absent vas deferens. i have tried IVF twice without success. my wife was on steroids during the treatment due to which she had faced its associated problems.
Is it possible to construct/implant a natural/artificial vas deferens?
Is there any research in this field going on which i can look for in the near/distant future?
please advice
thanking you View Answer |
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2009-02-03 |
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Hello. My wife had a CVS done and the result came back with mosaic cells and complete deletion of the long arm of chromosome 10 at the centromere, as well as chromosome 11. the other 8 showed 46XY.
We are having a Amniocentesis done as soon as she reaches 15.5weeks. is it common to have more that one chromosome deletion of the long arms? could this be accurate? View Answer |
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2009-01-18 |
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Hello my 37 yr old wife just received her CVS results, but we dont know what it means. The genetic counselor said that "they are getting a bunch of mosaic cells" Does this mean the test was not dont correctly? Does this mean there is somethinng wrong with baby? View Answer |
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2009-01-15 |
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I'm 40 years old and pregnant with my first child (girl). I've had no prior miscarriages and I conceived within 3 months of getting off the pill. Our amnio revealed a reciprocal translocation between the long arms of chromosomes 5 and 11. Both my husband and I got tested to see if we were carriers and we were told we are not. However; they did tell me that they saw evidence of mosaicism with me. They reviewed 20 cells with the following results:
15 cells normal 46xx
3 cells 47xxx
2 cells 45x
Questions:
1. Do you have any documents showing a transfer between chromosome 5 and 11 and what are the possible outcomes?
2. Should I be too concerned, is my success rate for a healthy baby over 90%?
3. Is this translocation that occurred on its own perhaps related to my mixed cell line?
I appreciate your help and any guidance! View Answer |
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2009-01-15 |
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I am looking to use an egg donor. This egg donor that I have chosen has had a child with Di George Syndrome. She did have genetic testing (FISH) and found out that she is NOT a carrier for Di George Syndrome. Is this inherited by another family member? Is this from the father? Should I be worried about this? View Answer |
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2009-01-08 |
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My husband has bilateral absence of the vas defrens. We were not informed about any genetic testing that should have been done on CF before we used IVF for conception. We have one child who is 6 and is healthy. I am currently pregnant (through IVF) with twins, one boy and one girl. We have recently found out that my husband's brother also has the same condition. There has been no CF on his side of the family that we know about. There is no CF on my side of the family that we know about. I am wondering.. 1. Is my husband positively a carrier of CF, 2. Is my daughter a carrier of CF and will she have any problems with pregnancy later in life (she is 6 now), 3. Will my twins have CF or be carriers, and 4. Will my unborn son have CBAVD View Answer |
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2008-12-15 |
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In my pre-natal screening for my 1st pregnancy I tested positive for trisomy18(1-27chance), but my daughter does not have it.What are my chances of having a trisomy18 baby with any other pregnancy? View Answer |
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2008-12-12 |
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The doctor just called and i went looking for an answer he said my son had the 15th and 20th chromosome's switch places/material we though it was trisome eighteen at first because my g/f tested positive for it now what does that mean/affect him if they switch places...Thank You View Answer |
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2008-12-12 |
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I am a 32 year old with two healthy daughters. One is 4 and the other is only 11 months. We just got the results back from our 16 week screening. My Trisomy 18 risk came back 1/10. We are scheduled for further counceling and tests. Is 1/10 a high risk number for this screening? I wish we didn't have to wait a week for further testing. View Answer |
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2008-11-18 |
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I am a 43 year old going threw a pregnancy AFP test and got a positive screen, have results from the test in fromt of me and don't really know how to read or understand results, wondering if there is any way someone can help me understand the results. View Answer |
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2008-11-06 |
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Hi, I am 34 and will turn 35 approximately three weeks before my baby is due, and my husband is 48. We have no family history of down syndrome. I am a type II diabetic and 21 weeks along with my sixth pregnancy. I had one elective abortion at age 16, and four healthy beautiful little boys. We are having a little girl and I take two forms of insulin. All of my prenatal blood work was normal, cultures and pap were normal, u/s for nuchal translucency was normal, blood work along with nuchal translucency was normal, growth and anatomy u/s at 19 weeks 3 days was all normal and now they say my AFP came back positive for down syndrome which was done at 19 weeks 5 days. I am terrified that something might be wrong with my baby girl! I want an amniocentesis with FISH to know for sure, but what are the odds that this is a false-positive test?
Thank you.
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2008-10-18 |
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I am 32 and at the 13 week nuchal scan had a thickness of 3. I don't have the specific blood test results but was gived a 1:36 chance of DS. I am confused about the folse positive claim on NT tests. They say they detect most (>60%) yet have a false positive result of only 5%. If I have a 1:36 chance, then wouldn't they be wrong 35 out of 36 times? That would be a HUGE false positive percent - almost 100%. I am sure I am just not understanding this, maybe you can explain it to me?
I am having an amnio at 16 weeks and will know more then. View Answer |
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2008-10-13 |
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I recently had a Quad Screen and the results came back:
MSAFP Risk Open NTD: 1 in 1671
Quad Risk Downs Syndrome: <1 in 5000
MSS3 Trisomy 18 Risk: <1 in 5000
MSAFP Adj MOM: 1.69
Estriol, unconjugated Adj MOM: 1.33
HCG Adj MOM: 2.87
Inhibin A Adj MOM 1.73
The gestational age was 16.1 weeks based on the LMP and my weight at the time was 129 lbs and I am Asian. I read that a HCG Adj MOM of > 2.5 was not good, but my doctor and nurse didn't say anything and the quad screen came back negative. Should I worry or get more screening? View Answer |
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2008-09-07 |
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CVS for a 36 year old showed partial inversion of chromosome 5 in all cells. Our genetic concellor suggested us to have our blood tested to see if the inversion comes from one of us (will do so soon), and they also told us that if the inversion is not from us,there is a 9% chance that the baby will have developmental problems. Is that true? is 9% a high risk indicator? He is our first baby,we both are very concerned and anxious.
They also suggest that the only way is to closely monitor the baby's growth with ultrasound for abnomal growth.
Can you offer any other suggestions? What's the risk that our baby will have developmental problems? What's the abnomal outcome it could have? Thanks a lot View Answer |
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2008-09-02 |
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i am 9 weeks pregnant and i am being told that the egg sach is much bigger then it should be. doctor told me of the issue that can be, but my question is can a baby still be healthy if CVS shown there is no problems with chromosones. thank you View Answer |
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2008-09-02 |
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hi, I am 32 years old.got pregnant with frozen cycle IVF. my first sonogram everything seemed normal. on 8/20/08 - 7 weeks and 2 days sonograms showed that size of the baby is 6 weeks and 1 day.Dr said that baby behiend 8 days,but the heart bit was at 120. I was told that there is chance that baby catching up but most likely i missrary b/c of chromosome problem. I would like to see how often do babys catch up to their normal size.I have one more sono on 8/27. I need some kind of answer except that this can be it. View Answer |
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2008-08-22 |
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Is it possible to use pre-implantation genetic screening for mitochondrial respiratory chain disorder? View Answer |
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2008-08-08 |
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I am 27 years old.
In my first trimester I had some blood test that came out negative. Lately, I had my second ultrasound and they detected a very small cyst. The doctor he said it had to do with trisomy 18.
If all my blood tests came out negative , can they still detect trisomy 18?
What are other tests besides amniocentesis, that can detect trisomy18 100%?
please respond soon
concern mother. View Answer |
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2008-08-06 |
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I'm a 29 year old female, 5 pregnancies, 2 miscarriages, 1 pregnancy diagnosed with Downs (lost at 6 months) 1 healthy female daughter and now pregnant again. I just got my amnio results back. They state the following: 22 from 23 colonies examined shows a normal female complement. However, one colony shows partial duplication of the long arm of chromosome 11, and whole arm deletion of short arm of chromosome 20. Not able to perform work up to determine if true mosaicism for these abnormalities exist, 12 colonies needed, only had 10. It then goes on to recommend a high resolution ultrasound or a repeat amnio as well as Genetic Counceling. Is this a specific syndrome or is there a chance the baby could be healthy? The perinatologist didn't seem too alarmed which confuses me. I've been researching this online and I'm scared out of my mind! I'm currently 17 weeks, 1 day and another ultrasound is set for Aug 20th. Any information you can provide would be wonderful. View Answer |
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2008-08-05 |
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I am 22 years old and I just found out that my baby might have chromosomes 18, and I wanted to know if there is a way that it can go away before my baby is born,and I am 16 weeks in to my pregnacy and I am very scared about it. please help me. How long would my baby have to live if it is born with this and also how would you take care of the baby if it was born with it?
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2008-07-24 |
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I have had 2 failed IVF in nov 2007 and April 2008(In these I have been stimulated to produce 24-26 eggs but only 4 embryos were formed).
I have now got my husband and my Karyotype report.
My husbands report is normal but my
Karyotype : 46,XX,9qh+,13pstk-,15p+stk-
Please let me know how severe is this abnormality of chromosome. Just to remind I have had 2 failed IVF's.Could this be the cause if IVF failure.Can I have my own babies with this defect in me. If yes what do you advise.
Looking forward to your early response. View Answer |
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2008-07-23 |
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Hello
I am a 45 years old and 11 weeks pregnant today. I have 3 children from my first marriage and to date have had 7 miscarriages with my husband prior to this current pregnancy. Following the multiple miscarriages we had a Compatability test which deemed us incompatible. We underwent Factor treatment with an Immunologist which I believe has assisted with this pregnancy.
Today at 11 weeks pregnant I had a Nuchal Translucency Screen with the follwing results ~
-neck nuchal translucency 3.1mm
-nasal bone 1.1mm
- foetal size 4.5mm
I was advised all the findings are not good and I was advised to skip the triphase blood screen and the amnio and instead have a chorionic villus sampling NOW...which I have scheduled for tomorrow.
My questions ...
-is there a chance the foetus could be normal
-if the CVS results show abnormality what is the chance our next baby will be normal
I look forward to your response
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2008-07-21 |
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My husband and I have 2 boys. We wanted to have a girl and did an IVF cycle with PGD to select the sex of the baby. We got 8 viable embryos, after testing we found out they all were male embryos.
Is there an explanation why we only have boys and also why we ended up with male embryos?
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2008-07-17 |
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Hello,my question is this.My sister she is32 and she is pregnant with her first child. She is 15 weeks and on her past doctor visit the doctor told her that her blood tests were abnormal, he told her that it showed somewhere something called Trisomy. The doctor sent her to see her Perinatologist and he told her that the baby's heartbeat sounded just fine, and not to worry that it was a 90% the baby will be healthy. He will do an ultrasound checking in detail in two weeks. However my sister is still very nervous, what can she expect, is it true what he said? View Answer |
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2008-06-29 |
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I am a 47 year old woman who is considering pregnancy with my own eggs. I would like to know what rate the liklihood of birth defect or genetic defect will increase with my age. I have a child-18 who was healthy at birth and is now. View Answer |
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2008-06-20 |
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I am 22 weeks pregnant and had AFP at 19 1/2 weeks that resulted 1 in 23 chance for Down's. Had level 2 U/S at 19 weeks that showed small EIF & femur 4 days behind. I just had another U/S & Amnio (no results yet) and the femur is now 12 days behind. I have had no chromosomal or fetal abnormalities before, but had previous still birth due to cord defect. This baby is very active with normal vitals. Have 2 other healthy children. Femur is about 6% and am very worried. How common is this in healthy a healthy fetus? Do we still have a chance at a healthy normal baby? 10-14 days is a long time to wait for answers. View Answer |
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2008-06-10 |
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Hi, A recent CVS has diagnosed my baby with a chromosome disorder 45X/46X+r.ish(Y)(DYZ3+) To everyone's suprise the baby appears phenotypically male so tests on the original sample are ongoing to determine exactly what this might mean. My husband's blood tests have revealed that his chromosome make up is normal so it hasn't been inherited from him.
Initial findings seem to indicate possible deletions in the SHOX gene and in aZFa-C although this is still to be confirmed.
My midwife has queried whether this result could be caused by a faulty CVS test (in so much as the result could be placental rather than related to the baby)
Could you give me any information as to what these results could mean for any baby boy born with them? and whether there is a possibility that this could be placental? View Answer |
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2008-06-08 |
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Hello. Last year we lost a baby at 17 weeks. A blood test showed a 1/4 chance of Trisomy 18, but since the doctor refused to test the baby, we don't know for sure if this is what he had. At the same time, I had a genetic test which revealed extra heterochromatin on chromosome 9 (9qh+). We are now expecting another baby, and the 11 week nuchal translucency scan showed an NT measurement of 3mm.
Two questions:
1. Is it possible that a baby with 9qh+ could be showing a largeish NT measurement?
2. Is there any correlation between Trisomy 18 and 9qh+? I have seen research papers which have said there is a correlation, but our geneticist said not. However, he was vague and didn't appear to think there had been much work done on it. View Answer |
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2008-06-05 |
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I'm almost 37 weeks pregnant and couple months ago I start to hear clicks whenever my baby is very activly moving. It sound like bones are breaking. I asked my OBGYN doctor couple times about what that can be, but I got ignored. I know there is something called Osteogenesis Imperfecta. I have already two healthy kids, and there is no family history of this condition in my or my husband family. What kind of test I can take to make sure that my baby is ok. I know that if the baby is not diagnosted before birth, probably will die at delivery. What should I do? What could that click sounds be? Please advice. View Answer |
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2008-05-21 |
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Hi.
I had a miscarriage at 20 weeks last summer and after testing the fetus, my husband and I found it had Turner's Syndrome.
Since then, my husband and I have gone through two rounds of IVF and have had PGD testing each time. The first round we had eight embryos and had two with Turner's. Five of the remaining six had various chromosome abnormalities, mostly missing one or more. We had one normal one that was slow growing and did not take.
The second round only produced four embryos and two came back positive for Turner's.
I had one doctor tell me it is primarily a problem with the sperm. Another has told me it is the egg. Is there any conclusive research determining if it is a problem with the sperm or the egg?
I am not sure if this is odd or not, but approximately 75 percent of the first round of embryos were females and all of the second round. Is it usually a 50/50 split with boys and girls? View Answer |
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2008-05-12 |
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Hi,
Just curious. What are my odds of having a child with Down Syndrome based on the following information.
29 yr
caucasian
140lbs
16.6 weeks gestat. age
AFP Value 35.8 ng/ml
AFP MOM 0.93
HCG Value 19648 mIU/ml
HCG MOM 0.65
uE3 Value 2.52 ng/ml
uE3 mom 0.87
DIA Value (eia) 157.89 pg/ml
DIA mom Value 0.81
Thank you so very much
View Answer |
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2008-04-24 |
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I have just been told that i have a 1% in 116 of having a downsyndrome baby is this something to worry about?Am i likely to have a downsyndrome baby with this small percentage?Is there alot of woman with this same percentage that have had this same percentage and still had a downsyndrome baby? View Answer |
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2008-04-15 |
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Is there any way that a genetic abnormality can be prevented from becoming evident in a child if it is recognized in the parent before conception? View Answer |
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2008-04-13 |
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I had a recent amnio that found a "partial triple X" (two normal X chromosomes plus one partial X chromosome in which the short arms are almost completed deleted) (the extra partial X is in all cells -- not mosaic). Our genetics counselor said that because some of the extra X chromosome is missing, that our daughter would likely have symptoms less severe than normal triple X. However, I have read that 2 X chromosomes are inactivated in triple X -- if the active chromosome is the partially deleted one, then wouldn't our daughter have effects of Turner syndrome, which is more severe than triple X? Also, it appears that deletion of the small arm of the X chromosome (Xp) gives rise to most effects of Turner's. I cannot find information on how the X chromosomes (and which ones) are inactivated. Any help and insight would be much appreciated (our genetics counselor does not know much about our particular case and everything that I have read on triple X is for 3 complete X chromosomes).
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2008-04-12 |
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I was wondering if you could help me interpret my 12 week screen. The nuchal translucency was 1.7mm, PAPP--A .22 MoM, HCG .09 MoM which puts the baby at a increased risk of Down Syndrome 1:5 and Trisomy 18 1:5. Could please help me understand this all and to know what to expect and what my next step should be. Thank you so much. View Answer |
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2008-04-05 |
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should I consider using an egg donor for IVF who has an uncle with Ehlers Danlos syndrome (mild case)? No one else in the family has been diagnosed with it. View Answer |
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2008-04-05 |
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I am 31 years old and 20 weeks pregnant with my first child. There is no history of chromosomal disorders in either family. My first trimester screen estimated my risk to be 1:10,000 and my Quad screen estimated my risk to be 1:700. I have had two second trimester ultrasounds, both of which confirmed the presence of bilateral echogenic foci and one of which found a sandal gap in the baby's left foot. Given our blood test results and the subsequent ultrasound findings, what is our baby's overall risk of having Down Syndrome? View Answer |
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2008-02-29 |
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Hi. Good day. I am a 39 year-old mother. My 1st born has robertsonian translocation (46 xx) der(15:21)(q11.2;q11.2) + 21 down syndrome. She is two and half years old now. We plan to have an ivf procedure with pre genetic diagnosis for trisomy 21 in Singapore to make sure that our next child will be perfectly healthy.My inquiry is where can I purchase the pgd assay kit for trisomy 21? Since the only pgd laboratory in Singapore informed us that currently the assay kit for trisomy 21 is not available in their laboratory.I will greatly appreciate your reply.Thanks and regards View Answer |
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2008-02-15 |
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I am a 30 years old women and I am almost 21 weeks pregnant. I have taken the triple test a few weeks ago but I got some puzzled results. The results were :AFP- 33.9 HCG-4.328 UE3-2.2 .Because of thevery low HCG value they could't calculate the risk .Fortunatelly all the ultrasound I took show nothing wrong.In fact the baby is growing well. Last week I have repeated the triple test at a different lab but the result were similar.The low HCG level may sugest a possible Edw. synd. but this is asociatted also with low levels of AFP and UE3. The question is : is this association absolute? Meaning that only when all 3 values are low there could be a trisomy 18 problem? Did you ever encountered something similar? I should mention that I have the hepatitis B virus. A doctor suggested that it could be the reason for the HCG levels, that the real HCG value is somehow "hidden" because of this virus.Can this be possible? Thank you in advance for your help View Answer |
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2008-02-15 |
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i am 31 yr old 24 weeks pregnant with my second baby. i have a 4 yrs son by normal delivary earlier. recently, when i had an advanced scan at 22.3 weeks, my doctor told me i had a 2 vessel cord. but he also added that the foetus was fine with no apparent anomalies. i went for a second scan 2 days later to another expert. he also said the same thing. i want to know if there is any further need of investigation through blood tests or amnio. should i be relieved that my baby is alright? View Answer |
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2008-02-04 |
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We just received a diagnosis of Trisomy 18 at 14 weeks. I am 43 and my husband is 44. I have to children by a previous marriage who were not affected by any problems. My husband has never had a child. Based on our ages, if we decide to try to conceive again, should we have genetic testing? What are the approximate costs and what does it involve? Thank you for your time. View Answer |
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2008-01-13 |
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I found out through my son's CVS that he and I both have a 6:14 balanced translocation. I just miscarried at 11 weeks (my second miscarriage) and we are considering IVF with PGD. How can we make a reasonably accurate calculation of our odds of having a live healthy birth via IVF and PGD vs. trying on our own. Neither the genetic counselors nor the IVF doctors seem to have the combination of genetic and IVF knowledge to tell us this. View Answer |
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2008-01-09 |
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My wife had chorionic villus sampling last week and the results were normal except for satellite material on one of the No. 15 chromosomes. We are both getting tested to see if either one of us has a satellite 15 chromosome but we won't have an answer for 1-2 weeks. From my reading, it seems that D and G group chromosomes are the most common to have a satellite. Is this correct? Secondly, if neither one of us has a "satellite" on our No 15 chromosomes, what would be the next recommended step? View Answer |
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2008-01-09 |
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I am 26 years old and currently 5 wks pregnant. This is my third pregnancy. The first one ended in a missed miscarriage. The fetus died at 9wks when I was supposed to be carrying at 12wks. The second one I had to terminate because the organs developed on the outside of the baby's body. The diagnosis was Pentalogy of Cantrell's. I went to see a genetics counselor and had a CVS done and the tests came back normal. I had an ultrasound done last wk and the dr could not detect a heartbeat and don't be too optimistic. I haven't had any spotting or cramping as I've had with my 2 previous pregnancies. What are the chances of going full term with this pregnancy? I really want this pregnancy and have been taking extra precautions such as taking the folic acid (4mg) in addition to my prenatal vitamins. View Answer |
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2008-01-08 |
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I'm a 31yr old G3P2 at 24 weeks gestation. First 2 children healthy. This pregancy has been complicated by large subchorionic hemmorhage and vaginal bleeding. Quad screen results indicate 1:75 chance of down's syndrome; negative for trisomy 18. Anatomical ultrasound looks good except newly identified choroid plexus cysts. I have not had an amnio because of subchorionic hemmorhage and what is felt to be an increased risk of miscarriage. Are quad screen results affected by bleeding conditions? Is there a correlation between down's and choroid plexus cysts? Is there a likelihood that this is another type of syndrome since no other down's soft signs have been indentified on ultrasound? I know I should see a geneticist and am strongly considering an amnio at this point. Any feedback is appreciated. Thank You. View Answer |
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2008-01-04 |
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I am 32 years of age and I just had my 20 week ultrasound. All measurements of the baby including the heart, lungs, limbs, and brain were perfect with the exception that the stomach is enlarged. My first trimester nuchal translucency scan results were very very good (so I was told). The doctor commented that the enlarged stomach could be anything from the baby having just swallowed a lot of amniotic fluid to, the worst case scenario, Downs Syndrome. The doctor told me not to worry but scheduled me for a follow up ultrasound in a week. What are your thoughts...can an enlarged stomach be related to Downs syndrome when there are no other signs at all? View Answer |
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2007-12-28 |
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hello im 15 weeks pregnant and after a cvs have been told my baby has a translocation of chromosome 8 they said there was a bit added and a bit missing, and that the result would be mental retardation,
can you tell me the likely outcome for my baby whats the worst and best case scenario?
i also have 2 autistic children could this be linked?
thankyou View Answer |
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2007-12-28 |
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My 39 year old wife's CVS test done at 12 weeks indicated trisomy 18 mosaicism. Even though confined placental mosaicism (CPM) often seems to result in a healthy baby, we've been advised that amniocentesis or fetal blood testing could not prove that abnormal cells are confined to the placenta since only a few tissue types can be tested. Positive results from either of these tests or a targeted sonogram would confirm the worst but would negative (good) results give us any useful information?
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2007-11-19 |
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Can an amnio be positive for translocation Down Syndrome, but the person is a carrier of a translocation and not have any signs of DS? View Answer |
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2007-10-20 |
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Greetings,I am currently 18 weeks pregnant and my quad screen at 15 weeks showed a "negative" screen. My levels of HCG and AFP were all "normal" . The ue3 however was low, 0.3 MOM. I have recently had an amino to rule out SLOS. There were no visable defects or abnormalities on ultrasound. Fetus is measuring to LMP dates. Fetus is female based on u/s. My question is what would be the cause of such a low Ue3? Is the level 0.3 MOM indeed indicitive of SLOS? What are the other adverse outcomes I should be aware of? View Answer |
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2007-10-06 |
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Can you please suggest where I could do more research to better understand and better decide in further invasive tests are necessary.I am 13+ weeks pregnant. I am 35 and will be 35 at the time of delivery. I have had the NT testing where the thickness of the neck was measured at 17. I was told anything under 25 is good. Then my blood work came back an the risk of my baby having Down Syndrome is 1/195 I was told just my age gave me 1/180. Is there a benefit to doing an anneo.? I would not change my pregnancy because of the results and they are doing a level 2 or 3 ultrasound in a few weeks. Thanks View Answer |
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2007-09-27 |
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Hello, I am 31 years old and having my 3rd child. I will be 32 when the baby is born and have had two very healthy children. What are my chances of have a baby with birth defects or down syndrome at my age. I am some what over weight but other than that i am healthy. I don't smoke drink or do drugs. Any information that you can give would be a great help. Thanks for your time! View Answer |
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2007-09-23 |
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I am 16 weeks and had two different results for testing I am 41 years old. Is it possible that one test could be wrong, the Ultrasound ( no sign of down Syndrome) or the advance blood( positive for DS)? If it turns out true what can i except for mild DS? View Answer |
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2007-09-17 |
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My friend who has 4 beautiful children, one with Smith-Magenis Syndrome has offered to donate her eggs for IVF. My question is: Are the chances high or low regarding me having a Smith-Magenis Syndrome baby and can I be screened for the detection of Smith-Magenis Syndrome in the early months of pregnancy.
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2007-08-27 |
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I am in the process of having an IVF cycle start but i have been notified that my Sperm donor has had an offpring that has come back positive with sickel cell trait. I have been tested and i am not a carrier of the sickle cell trait. it gets a little more complicated because i am having my Oocytes removed then their will be an embryo transfer and the embryos will be placed in a surrogate that is also negative to sickel cell. could i still use the donor? is sickel cell a X or Y chromosome and or dominate or ressesive alle???? View Answer |
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2007-08-09 |
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i would like to ask, is it possible to have a mosaic genetic disorder such as mosaic down syndrome and for an amnio test to come back as negative for down syndrome? if it is possible is it very unlikely ?
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2007-08-05 |
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I am 35 yrs old and my wife 26. we are in blood relations. Our first child 8 years old is diagnosed as "mosaic Trisomy 18" he is MR and had microcephaly. After 2 years , we aborted the 6 weeks baby as we dont want without any investigation. Third time,Torch was positive and because our first child had congenital anomolies, doctor advice for MTP. Presently my wife is 19 weeks pregnant, all blood reports are normal but amniocentesis shows translocation on 15p chromosome. We both have normal karyotype. So what should be the cause. Whether to continue pregnancy or abort. consequenses if any. please inform View Answer |
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2007-07-31 |
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Following my 20 week ultrasound(which was performed over the abdomen), my doctor contacted me because there was an echogenic stomach. I have not been able to find any information on the web regarding this condition. I am aware of the relation to echogenic bowel and down's, but my doctor assured me that it was in fact the stomach that they found to be hyperechoic. I will return for a 28week ultrasound, but would love information on what the finding of an echogenic stomach means and what disorders/abnormalities, if any, are associated with this finding. 8 weeks is a long time to wait with no information or explanations! this is oue second pregnancy and our16month old is healthy and had no abnormalties in utero. We also have no known family history of abnormalities. Thank You in advance! View Answer |
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2007-07-08 |
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My spouse is affected by two genetic conditions - Marfan's and Charcot Marie Tooth, Type 1. In the next two years we will be ready to have children and 100% inclined to do PDG testing with IVF. I have read conflicting information as to whether two disorders can be tested. One geneticist told us 2 years ago, a max of two can be tested. Online I have read only 1. We aren't ready to speak with a fertility specialist, but I don't want to get my hopes up. How can I knowning choose which disorder my kids might get. View Answer |
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2007-07-05 |
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I presently have two frozen embryos. PGD was performed on these embryos. One was found to show monosomy 21. The other showed monosomy 18 and then normal. I have been told that sometimes since pgd is done so early in development that what shows as a monosomy may not be a true monosomy. I guess my question is - I would possibly like to implant these embryos. What is the likelihood that they are true monosomies? If they are would they result in a miscarriage if implantation took? Please advise. View Answer |
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2007-06-08 |
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blood test + for trisomy18 what could causea +result if amnio is -? View Answer |
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2007-06-07 |
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Results of our Amniocentesis test at 14 weeks of pregnancy and FISH results suggest we have a female fetus with Trisomy for chromosone 18 in 13% of interphase cells (100 interphase cells analyzed per probe). Abnormal cells exhibited 3 hybridization signals for chromosone 18. Can you please explain to my wife and I the statistical significance of 13% of the cells showing this chromosonal abnormality and how severe this effects the fetus? Why only 13% of the cells show the Trisomy 18 and not all the cells? Does this means the baby is at a 13% risk of developing severe defects or will severe defects be present no matter what? View Answer |
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2007-05-17 |
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I am 20 weeks pregnant with a baby girl with Turner Syndrome, posterior nuchal cystic hygroma, hydrops and ascites. My husband and I realize that the prognosis is poor, but we have decided not to terminate. I have a family history of lymphoma. My maternal grandfather had non-Hodgkins lymphoma and died and my maternal uncle currently has non-Hodgkins lymphoma but is responding to treatment and doing well. In addition, I have an autoimmune illness: autoimmune hepatitis and a highly positive antinuclear antibody titer. From what I have read fetal nuchal cystic hygromas are a result of the failure of the lymphatic system to communicate with the venous system. My question is this: given my family history with lymphoma and my own autoimmune illness, do you think that I am at an increased risk of a nuchal cystic hygroma developing in a subsequent pregnancy? Or, do you believe that this condition is related more to the diagnosis of Turner Syndrome vs. my family history and current health condition? View Answer |
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2007-03-14 |
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My sister is pregnant and is being told that the baby may have polycystic kidney disease. Upon research of my father's death (at the age of 42) we see that he had this condition as well. Apparently my sister is a carrier of this mutated gene and therfore I and my other siblings may be as well. Is there a genetic test that I can undergo to see if indeed I am a carrier? View Answer |
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2007-03-06 |
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I was sidebar consulted by a friend who's amniocentesis came back positive for inv(Y) chromosome. Cursory review of available materials states that the child may be normal if this chromosome was inherited from the father. (1:1000 freq; increased in Italian population etc) Currently she is waiting for the chromosome analysis of the father. What else can I tell her? View Answer |
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2007-02-27 |
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Im a 24 yearold women ive had 3 successfull pregnancys.MY boyfriends mother has friedricks axtavia.So he is a carrier of the gene we are 19wks pregnant and i oppt for the down syndrome test.It came bck positive can these two be related? View Answer |
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2007-02-24 |
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I am a current IVF patient getting ready to start a new cycle with genetic concerns. My spouse's family tree concerns the two of us as his parents are first cousins.Can you please tell me whether of not the fact this will affect our producing children in the future? Alle of his siblings and himself have severe learning disabilities and other issues such as lazy eyes and we would want to know if with the close relation if we should look to alternative sources for paternity? View Answer |
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2007-02-19 |
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I have heard of the application of Preimplantation Genetic Diagnosis in Sex Selection. I am wondering if any of the Emory Doctors or any doctor in the Atlanta area is currently involve in this practice. If not, how do I go about finding one?
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2007-02-19 |
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Dear Sir, I would like to know whether at the 16th week of gestation it is already possible to detect a trisomy 18 through an ecography. Are there, by means of an ecography, any precise signs, marks or features which can be recognized as symptoms of a trisomy 18 for sure?
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2007-02-12 |
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My wife and I are pregnant with our second child. After the first ultra sound we got a letter telling us we need to do another ultra sound. They sent us to genetics for this ultra sound. They thought there was a issue with the ventricles in the brain. When we did the second ultra sound they said everything was progressing fine and that they thought the baby was 19 weeks but in reality the baby is 21 weeks. Well after the good news we sat with a nurse that started asking us about family history. We both told them out family history and there was nothing on my end but my wife's family has evidence of Mytonic Dystrophy. Her aunts have it and some of their children have it. My mother in law is in her 50's and is completely fine so muscle pain or anything of the sort. My wife, her sister and brother all completely fine and they are all in the mid 20's to early 30's. Their kids all seem fine. My daughter seems fine but we are freaking out because we think my wife might still be a carrier and that our unborn baby or our daughter might have this. What are the odds of her having it if her mom doesn't show signs? My wife doesn't show signs or her siblings or nieces. We have to wait 2 weeks for the results and we are going CRAZY. Any help would be appreciated. View Answer |
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2007-01-31 |
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I don't know if this question should be directed to you or a reproductive doctor but here goes..... My husband has a history of multiples on both sides; father is a fraternal twin, mother's sister and sister's sons are identical twins. I've just undergone ICSI/ IVF and patiently waiting the outcome. My question is, if we are pregnant with multiples, is there any way of knowing if this is through IVF or just the luck of the draw of my husband's genes? View Answer |
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2007-01-28 |
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My Wife's elder brother was diagnosed with MPS(MucoPolySaccharide) about 20 years back and he died at an age of 12. There are no known cases of babies with genetic defects from my family. My wife quite normal and we are now 12 weeks pregnant. I would like to know if there are any available tests/screens that we(parents) can take to rule out the possibility of transmitting a defective gene to our child. If yes, are these invasive and what are the risks of a miscarriage with such a test. We are basically looking at tests that can detect if either(or both) are carriers of the defective gene. Finally, can we also test the baby for the presence of a MPS-related disease during the pregnancy. If there are tests, I would think they would be available in the San Francisco Bay Area.
Thanks for the service! View Answer |
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2007-01-09 |
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My daughter gave birth to a trisomy 13 baby in August. She has a slanted forehead, abnormal brain, no fluid in the brain, low set unusually shaped ears, no eyeballs, a prominent nose and thick nose bridge, severe heart abnormalities, and an enlarged kidney. The baby does not have cleft lip nor pallet and its hands and feet appear normal in shape. Regular ultrasounds were done plus a few extra "so all the chambers of the heart could be seen" and none of the abnormalities were seen. In fact, we were told that the baby was looking great and perfectly healthy. My question is: With so many irregularities, why were none of them seen on the ultrasounds? Also, at how many weeks can a chromosome problem be detected during pregnancy? View Answer |
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2006-12-01 |
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MY OnlY CHILD IS ONE AND WAS BORN WITH THE GENETIC CONDITION. I AM CURRENTLY EXPECTING ANOTHER CHILD. IAM AT THE EARLY STAGES OF MY PREGNANCY WHAT TESTING CAN I GO THROUGH TO DETERMINE IF THE BABY IAM CARRYING HAS THE SAME GENETIC CONDITION View Answer |
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2006-10-25 |
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My sister in law is 19 years old and when she went to the doctor. Her test for DS came back that the baby would have this condition in the neck. Is it porssiable for a woman that young to have a child with DS or is there something in the blood that may as show similar to that, if so what could it be. View Answer |
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2006-10-19 |
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I recently was given a 1/67 risk of having a baby with Trisomy 18. I am currently 21 weeks 1 day pregnant, at the time of my results i was 16 weeks. My high risk dr stated that she has never seen a baby with trisomy 18 and a normal ultrasound. How accurate is this testing with a normal u/s? Should I get a second opinion?
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2006-10-06 |
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CAN TRISOMY 13 BE DETECTED DURING PREGENANCY? View Answer |
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2006-10-05 |
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Can triple X syndrome be detected during pregancy?
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2006-10-05 |
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I have incontinentia pigmentosa. My husband and I are looking into invitro with donor eggs for having a child. I have been reading alot about Incontinentia Pigmentosa and I am just wondering if this is the best route to take. I have never been pregnant due to the fear of passing this disease on to my child. View Answer |
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2006-09-27 |
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My partner and I are considering IVF because of my condition (non-obstructive azoospermia). Unfortunately, of the pregnancies my partner has had, 2 were diagnosed with OI. The first was born with Type II OI and died 6 months later. The next pregnancy yielded a healthy baby girl who shows no signs of OI. The 2nd pregnancy revealed at 18 weeks showed multiple fractures and the decision to terminate was decided. We have been advised that there are few options on testing prior to getting pregnant here in Houston, TX. It has been recommended to go through the IVF process, get pregnant and then test the placenta's collagen at 10-12 weeks into the pregnancy to determine if the baby has been passed the mutation. Are there other avenues we can explore BEFORE going through the expense of IVF and finding out we have to terminate the pregnancy due to OI conditions? What other tests may/may not be available? What is the chance the baby will have OI? We want to have a baby together, but I'm worried about the health/risk of my partner. Another factor to consider, is that she is 38 years old. Can you please offer some guidance or other resources we can utilize for this predicament. View Answer |
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2006-09-27 |
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I got my amnio done at 20 weeks and the results say that I have Trisomy 20 mosaiscism in 33% cells. I want to know if I will have a normal baby. Also, is it possible to tell tell the baby is ok before it is born by high resolution ultrasound? Can outcomes like mental retardation be ruled out by the ultrasound too? Please give me a true picture, the literature and counseling is very confusing and does not tell anything definitive.
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2006-09-20 |
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Hello, I have a question concerning prental genetic screening. I am 41 and my husband is 42 years of age. We are discussing the possibility of having a child, but, we would like more information on the risks involved. Do I need a referral to have prenatal genetic testing?
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2006-09-01 |
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I am 41 years of age as of 9/22 and am 21 weeks pregnant. My 20 week ultrasound was within normal limits EXCEPT for echogenic focus seen in the LV and RV and slightly echogenic bowels (fetal abdominal wall) and I have not had an amniocentesis yet - should I be concerned about a genetic chromosomal disorder with these findings? I just had a baby last year who will be one year 9/15/2006 and have two older boys who are all normal and healthy and are 14 and 10 years old. View Answer |
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2006-09-01 |
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We are deperately seeking help. We are trying to find any center in this country or abroad which does prenatal testing for Mucolidosis or ML-II(I-cell disease). We have used the services of Thomas Jefferson university before. But as of last year they have stopped all prenatal tests.
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2006-08-09 |
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at our recent ultrasound, my fiencee's tri-screen came back at low levels, the doctor claimed that this is indictive of trisomy-18. My fiencee has had a gastric bypass done almost 2 years ago, and has gone from 425lbs to 290 (present). My question is how accurate is the tri-screen in detecting this disorder, I cannot seem to find any information that states that this screen being used for this disorder, or is that because down's is also a trisomy, only on a different chromosome? View Answer |
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2006-08-09 |
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At age 35 In Feb of 2004 I had a maternal serum screen test to indicate a 1 in 172 risk for Down syndrome an no increased risk for trisomy 18. I delivered my daughter July 2004 without any birth defects. I am expecting a son in Dec this year. My maternal serum test or the AFP Max-4 test risk factor to have a baby with Down syndrome is 1 in 10. This risk factor is known as the "adjusted Down synrome risk". What does this mean......I did not get an adjusted down syndrome test before. There is a big difference in 1 in 172 and 1 in 10. Please explain these to me!! View Answer |
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2006-07-27 |
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Good morning, a year ago we lost our 16 months old baby girl from glutaric aciduria type 2.Please let me know if there is any methods ,at laboratories,that we can be sure that if my wife get pregnat,our new baby is not going to have the same sydrome.I mean if there is any methods to 'clean' my sperm before they put it in my wife,like PGD method.Thank you for your time,please excuse my english View Answer |
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2006-07-19 |
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my brother and his wife are about 4 1/2 months pregnant and they were just told that the baby may have edwards syndrome. my brother when he was born, had to have his legs put into casts because they were facing outward instead of being straight. He also has webbed feet, and he believes that he may be the reason that they are in this situation. is this syndrome something that can be past on during conception or is it just the way the egg and sperm come together?? View Answer |
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2006-06-26 |
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My friend had an amniocentesis 14 years ago and the doctor said that the results showed a possiblity of Downs Syndrome or Turners Syndrome. They turned down the further blood tests for fear of miscarriage. They have since had a girl and a cord blood test following birth which they said results were normal. She has displayed no symptoms of Turners Syndrome but we were wondering why a amniocentesis would suggest an abnormaility. They don't want their daughter to have more tests as they don't want her to know she may have Turners...any suggestions? View Answer |
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2006-06-19 |
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My husband's brother supposedly had familial dysautonomia, and died at age 13. I am not Jewish, but am of Polish decent. My 2 children are fine. My daughter's 1st child, age 5, is fine. My daughter is 10 weeks pregnant, & got a call from her OBGYN that blood test came positive for familial dysautonomia. Her husband is Philipino. She does not want to test further, since she would never terminate. Could this be a false positive? My son's wide had a baby boy in Jan., and he is fine. Please advise. View Answer |
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2006-06-17 |
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Dear sirs, I am 30, 10 weeks pregnant. My sister had a girl w/TCS (she lived only 17 days, she died on April this year). Nobody in my family or her husband's family has TCS. I would like to do the prenatal genetic test for TCS. Do you reccomend me to do this test? Can be this test risky for my pregnancy? When is the best time in the pregnancy for detecting the syndrome. View Answer |
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2006-06-15 |
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I had an ultrasound done today, 17 weeks, and doctor said he saw a bright spot in the baby's heart, and that it could be a sign of down syndrome, but also said that everything else looked normal, size, facial features, blood, and all the other things. Im 24 years old and its my Third baby, my other children are normal. Can you explain more of this to me? please, I am very confused. I also had a blood test done today(screening). What is the real risk in this? View Answer |
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2006-06-13 |
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My doctor was sure from my ultrasound scan that 99.9% I was carrying a baby girl at 19 weeks and 4 days.
Amniocentesis test result reported XY which indicates a boy. Who do I belive, how can I know for sure?
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2006-06-08 |
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My husband and I have been seeing a very reputable reproductive endo and went through our egg retrieval and first transfer in April. The first try was unsuccessful, however we have 4 embroys that have been PGD tested using the 5chromosone test and they are very good embryo's for transfer with no abnormalaties. I was getting ready for the frozen transfer when my blood pressure spiked and my Total Cholesterol & Trig levels became elevated and my HDL levels dropped. We had to stop this process because of the risk at this point to my health and the health of the embryos - my question is that I have PCOS and if I can get my blood pressure, weight and cholesterol under control what is the risk in becoming pregnant in the future. I was told I could have Toxemia or even stroke during delivery. Also does PCOS transfer to both boys and girls genetically even though they received the 5chromosone test? View Answer |
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2006-05-20 |
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Hi. We just got results of our AFP quad screen test - MSAFP was .99 MOM, Estriol was .81 MOM, HCG was 3.77 MOM and Inhibin A was 1.26 MOM. It came back positive, a 1 in 55 chance for Downs Syndrome. (We were already at 1 in 43 because of age - 42) I am most concerned about the HCG. The gestational age was determined by Ultrasound (single baby). Are there other causes of elevated HCG? Is 3.77 MOM a cause for major concern? View Answer |
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2006-05-19 |
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i am 23 years old, and i am 19 weeks pregnant. i was just told that i have a 1.5 % chance of my child having trisomy 18. my ultrasound came back good, now i am going for a level 2.are the odds in my favor because i am only 23, is it more than likely for my afp to have came back wrong???????
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2006-05-18 |
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I received the results of my amnio and was told that there is a duplication of the 9th chromosone. What does this mean? How will it affect the baby? View Answer |
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2006-05-16 |
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My daughter's doctor wants to rule out Triple X and referred her to a geneticist. I had a CVS when I was 10 weeks pregnant. The results of the CVS state "Cytogenetic analysis performed through our laboratory revealed a normal chromosome pattern with no evidence of Down's Syndrome or other chromosome disorders." Could the results of my CVS be wrong?
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2006-05-06 |
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are amnio test 100% ive had one and my unborn child has tested positive for down syndrome i really need to know how sure an amnio test is View Answer |
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2006-04-26 |
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I have PCOS, diagnosed when I was 14. I have 2 sisters which also have PCOS. My paternal grandmother also had PCOS, was treated in her 20's with an ovarian wedge resection which seemed to resolve the PCOS and symptoms. My father has adult on-set diabetes, although is overweight and has had significant dioxin exposure.
I know there is an X-linked PCOS gene. Is it worth testing for? Is the outcome of the X-linked any different than other forms of PCOS? I would like to know for me. I have not been able to have children, one sister is also unable, and one sister had 2 successful pregnancies.
Thank you. View Answer |
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2006-04-18 |
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I am 22 weeks pregnant and have two other healthy children. In the last several weeks we were told our baby had a cleft lip and palate and then through further testing hypoplastic left heart , aortis stenosis. Through amnio we were told the baby has trisomy 7 mosaicism. We do have some info but very little. My question is what are chances of survival? We have been told that there aren't alot of answers until he is born and that is if I carry full term. Are there other survival cases like this? View Answer |
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2006-04-16 |
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I had a PE in 1997. I'm pregnant and I take heparin during this pregnancy. I'm 19 weeks. During my ultrasound the baby was diagnosted with congenital arthrogryposis. I was told it'll be better for me to have an abortion befor I turm 20 weeks. I've been looking for info on these condition on line but I get other results. Can you give a better website to look at? I don't wanna do anyting untill I find more info on it. Thank you. View Answer |
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2006-04-13 |
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I am 14 weeks pregnant and I was told that my baby has 80%xo and 20% xy. Now the doctors are suggesting an amino test to see if the baby has deformities. No one in either of our families has had mental retardation. How likely is it that our baby will affected?
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2006-04-10 |
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HI, I am 24 weeks pregnant and just got the amnio results. We are having a baby girl with a partial trisomy 1 46xx dup(1) (q12q25). I know this is very rare and not a lot is known about it but am looking for any other information or prognosis you can provide. We have talked to a genetic counsler and are waiting the results of my husband's and my testing.
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2006-03-21 |
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Can Down Syndrome be detected before symptoms appear? If so, How? Can it be detected prenatally? If so, how? View Answer |
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2006-03-04 |
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I have just had my 18 week ultrasound (its a boy) and the doctor found choroid plexus cysts. My AFP test results according to the doctor were all OK. She stated that Trisomy 18 often occurs with these cysts. She did not mention any other abnormalities with our child. She did mention that he is about 7 days ahead of growth schedule due to weight and femur length but did not change my due date from Aug. 1, 2006 and did not recommend an amino, placenta biopsy, or another ultrasound. How worried should my husband and I be and what can we do to ease our fears? Thank you so much for your time in this matter. View Answer |
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2006-03-02 |
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At about 20 week s into my pregnancy i had a quad screen blood test done.
The results came back as a possibility of my unborn child having trisomy 18.
I am curious to know how reliable this test is and what are the chances it could be wrong?
is it common for this test to come back with a false positive result and if so how often?
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2006-02-15 |
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During a 20 week structural scan it was determined that our baby had polycystic kidney - the kidney appeared like a honeycombe - filling nearly 3/4 of the adnominal space. The amniotic fluid was very low - almost none. We opted to terminate the pregnancy as there was not a chance our child would live should she manage to live through the full term of the pregnancy. We were told that I would probably miscarry quite soon due to such little fluid. My husband and I are now sorting through the available info to determine whether we should try to have another child(we have a healthy 17month old without any problems) OUR FACTS: no known kidney disease in our families, we are having renal scans to eliminate that we might have kidney disease, we are both 35 years old. We want to know what are the chances that we will have another child with polycystic kidney?
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2006-02-09 |
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I am 34 years old with a normal healthy 2 1/2 year old daughter. We lost a baby to Trisomy 18 several months ago. We met with a genetic counselor who determined it was a ?fluke? after doing a full genetic evaluation of our backgrounds and family history. We are 11.5 weeks pregnant (with a boy) and had the CVS test at 10.5 weeks. Although the CVS came back completely normal, the Doctor noticed a slight thickening of the back of the neck (2.4 mm vs. a normal 2.0) Nuchal Translucency. All the research I have found has only pointed to a chromosome problem, most specifically Down's syndrome. Since they have ruled this out, what else could be going on that I should be concerned about? I will be taking the AFP test for birth defects in a few weeks, but I would like to know what we are looking at as far as possible problems, and the percentages associated with this indication? I would also like to know the percentage that a nuchal translucency becomes normal or goes away? Also, does this measurement in a normal baby stay the same or change during the pregnancy? View Answer |
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2006-02-01 |
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I am 18 weeks pregnant and an ultrasound and extensive testing (MRI, ultrasounds) confirmed a diagnosist of diastrohpic dysplasia. My husband and I are of normal size and healthy, and there is zero incidence of this in either of our families. We are shocked and completely confused. How did this happen? Will this happen again? We've heard everything from "this is an isolated incidence with low chance or recurrance" to "there is a 50% chance of this happening again" Any answers or information you can offer would be very appreciated. Thank you View Answer |
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2006-01-26 |
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My amnio results indicate that the fetus I am carrying has an inversion on chromosome 4, the specific results read "inv(4)(q13.2q25). My "genetic counseling" has been less than helpful. Neither my husband nor I carry this inversion. Are there any known disorders specifically associated with this inversion? How often does this occur? Any information would me very much appreciated. Thank you. View Answer |
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2005-12-28 |
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My husband and I are carriers of the CF gene. I carry the DF508 and my husband carries the mutation that is typical in the Jewish population. We are currently trying to conceive again and would want to go through a CVS test to determine the status of the fetus. How long does it take to get CVS results? I have been told as long as 2 weeks. Is there any way or any lab that will expedite this process. View Answer |
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2005-12-07 |
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After 5 miscarriages (one Trisomy 16, 4 unknown) we am pregnant with twins after IVF/PGD. Our 18 weeks ultrasound found chorion plexus cysts on both babies (one with bilateral cysts and the other with one cyst). No abnormalities other than the cysts were found on both babies. Our NT test was negative. We are hoping to avoid an amnio due to the risk of miscarriage. With a negative NT test and after PGD, what is our risk that either or both of these babies have a Trisomy 18 issue? View Answer |
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2005-11-29 |
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I have a cousin who just had an amnio. The results come back saying that the baby has a deletion of the 16q. Starting at q13 thru q22.1 we need as much info that you can give. Thank you.
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2005-11-28 |
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My future husband and I are both Ashkenazi Jews.
What should we be tested for, besides Tay-Sachs,
prior to pregnancy? What are the tests named?
Thanks.... View Answer |
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2005-11-21 |
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Hello, My husband and I have been trying to conceive for several years and have not yet had a successful pregnancy. After 5 IUI's (one conceived but spontaneously aborted), and three IVF cycles (one chemical pregnancy and a current failing pregnancy). I am currently 6-7 wks pregnant and it appears that the baby has stopped growing and I will miscarry. My Reproductive Endocrinologist recently told me that I have a balanced translocation as follows: 46,xx,t(11;22)(q23;q11.2). We are planning on doing another cycle of IVF but we want to know exactly what our chances are. Are they still good? Is there a possibility of us conceiving and having a healthy pregnancy? We were previously told that we would not be candidates for PGD since I produce on the average 15 eggs & about 1/2 of which are mature. Is it really a question of maturity or could it be the translocation? Even if I end up with 8 or so mature eggs, should they all be ICSI'd and PGD performed before implantation? We are not sure where to go from here.
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2005-11-18 |
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My daughter's amino came back with a dignosis of a X Chromosone Long Arm deletion on the 46th Q-28 deletion. What implications will this have for her daughter?
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2005-11-03 |
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My 35 yo wife is pregnant of non-identical twins. We did CVS and one of them was positive for chromosome 9 trissomy (4% of cultured cells (from one flask)). We then did amniocentesis that was normal (500 cells analyzed).
Now, at 33 weeks the baby is not growing enough (IUGR). Several Ultra sound have shown a normal baby and amniotic fluid. My questions: 1) Is there any chance that this mosaicism is not confined to the placenta because of false negative amniocentesis?? I mean: Is it possible that the trisomy is confined to certain fetal tissue and their cells has not been released to the amniotic fluid so it turned out to be negative? 2) Is it possible to have a child with chromosome 9 mosaicism and no abnormality at US by 33 weeks (only with IUGR)??
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2005-10-24 |
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I am studying nursing and would like to go into maternity nursing. I have a question Im stumped on "How old is an ovulated oocyte of a 35 y/o woman? Will this have any consquences?
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2005-10-23 |
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We just found out that we are having a child that is diagnosed as a partial trisomy 13. Our amnio results indicate 46,xy,+der(13)t(13;21)(q21.2;q11.2)mat,-21. So far we have only found information regarding full trisomy 13 or partial trisomy 13 without our genetic make up. Can you tell us what the potential health problems are and what an approximate survival rate would be. At this point on ultrasound, the only abnormalities are a 2 vessel cord and an area of prominence in the cerebellum. Otherwise everything looked normal on our level two ultrasound.
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2005-10-08 |
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CVS for advanced maternal age (45) showed trisomy 5 (in all cells). Amnio results normal 46xx (all cells), so the genticist is calling this confined placental mosaicism. The genetic councellor is suggesting a level II ultrasound (the 16 week US scan was normal), fetal echocardiography, and paying special attention to the placenta during the third trimester (all of which I will do). They also suggest that my husband and I have blood tests to detect possible uniparental disomy in the fetus. However, the geneticist told us that there is no information available on the implications of UPD for chromosome 5. The test is expensive, and would cause us more anxiety. Would the results give us any useful information?
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2005-10-06 |
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Hi I got my aminocentesis results yesterday. I was told that out of the 3 samples two came out normal with correct chromosomes. On the third sample, they found 4 cells on one colony with q arm on 18 missing, rest of the colonies seemed fine. I was told that this is termed as pseudomosaicism(?) or some lab artifact. I am really concerned what the significance is and how I should deal with this scenario. Please shed some light on this... View Answer |
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2005-10-03 |
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My wife recently had an u/s done at 10 weeks 5 days pregnant. She is 26 and is pregnant with twins. One appears to be normal but the doctor is concerned about the other because of an NT measurement of 4mm. The fetus also appears to have septated cystic hygroma which apparently is the most concerning of the 2. She had blood taken today to be tested for increased risk of chromosomal abnormalities and will have an anmio next week if needed. We are very worried. There is no history of any chromosomal problems on either side of the family. She has had 2 miscarriages in the last year and a half. We had genetic counseling for the second one and were told that our miscarriage could have happened to anyone and we are not at an increased risk over the general population. How worried should we be? Any info would be really helpful. Also, will this affect the other baby at all?? View Answer |
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2005-09-29 |
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I am 44 yrs old & am currently 14 weeks pregnant.I had a cvs preformed at 12 weeks. It shows our baby to be perfectly healthy but the cells from the placenta only showed abnormal chromosone 9. I now have to have an amnio preformed at 16 weeks. My dr told me every thing is fine but I worried about what effect this could have on our baby. View Answer |
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2005-09-20 |
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I'm 20 week pregnant the baby seems to have Arthrogryposis my doctor suggested i have an abortion what should i do View Answer |
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2005-09-15 |
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Do women who conceived through assisted reproduction have a twice as high risk of a false positive AFP?Does the use of fertility drugs, HCG, Progestrone, cause significantly elevated AFP values? View Answer |
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2005-09-14 |
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During an ultrasound, we found out our baby had a choroid plexus cyst. We were sent to a university hospital for a level II ultrasound, and the doctors and technicians found out that our baby was missing about half of his fingers and half of his toes. No one has been able to provide us with any answers, and we were wondering if you knew of any genetic problems that could cause this. View Answer |
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2005-09-14 |
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I am 17 weeks pregnant and I had a CVS at 12 weeks, the result was good. But last week when I did the ultrasound, one image showed that it is related with a chromosome abnormality. I am really worried, which result should I trust more? Should I do other tests? I had a previous pregnacy with chromosome abnormality last year. View Answer |
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2005-09-14 |
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I am 8 weeks pregnant using IVF/PGD. We lost a baby at 17 weeks with Down's syndrome 2 years ago. Now, we are trying to decide whether to take the CVS test. We did IVF 4 times and the slight risk of losing the baby from the CVS test seems too high for us. What are the chances this baby will have a chromosomal disorder after PGD? View Answer |
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2005-09-14 |
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I am wondering who I would talk to donate my eggs for reproduction? View Answer |
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2005-09-14 |
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I'm 42 y.o. w/ 7 week gestation twins via IVF, using my own eggs. Hx of Beta Thal (minor); husband not yet tested. Am confused over options: early CVS, amnio later, nuchal U/S & triple blood test and how these relate to: 1-test accuracy. Actually getting a sample from each twin 2-Risk of loss of each3-Potential for equivocal results 4-How to find the most highly accomplished & practiced MD to do the CVS as our local OB does not do it and our IVF was performed out of the country. View Answer |
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2005-09-14 |
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My daughter had a CVS test where it was found that 6 out of 15 cells had a chromosome abnormality. The normal chromosomes are 46,XY; the abnormal are 45,X. What are the chances that this mosaicism will occur in the baby itself? And if it does occur, will it lead to miscarriage? View Answer |
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2005-09-14 |
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My partner and I are trying to start a family. After some failures with fertility treatments, we discovered she has polycystic ovarian syndrome. After treating this condition she now ovulates but has suffered several miscarriages. She has now been diagnosed as having a balanced translocation between chromosomes 6 and 10. In addition she appears to have von Willebrands and her Factor 8 level in her blood is rather low. Could there be any link between this translocation and these conditions? Also we have some frozen embryos at our local fertility clinic - if we use them should we have PGD done on any viable embryos? View Answer |
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2005-09-14 |
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My sister's CVS test was positive for Down's. However, her next two scans were normal. The doctors said they couldn't have made a DS diagnosis from the scans alone. Is there any chance the CVS test was wrong? View Answer |
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2005-09-14 |
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My wife (40 years) and I decided to try for a third child. She concieved and because of her age decided to have an NT scan. The nuchal thickness was 5.5 at 11 weeks and three days. The doctor immediatly told us that the fetus had a cystic hygroma that may be septated. At first we thought the baby was at risk for a chromosome syndrome, until we found out that a cystic hygroma is a problem, not an indicator of a potential problem. We also had a CVS done, but the cells grew fast and are that of a female. The baby is a girl so the doctors can't say if there are any problems. We have been looking for information on the internet since all our doctor can give us is a lot of maybe's. On the fetal medicine foundations web site it says that "increased nuchal translusency can resolve in the 2nd trimester, or evolve into a cystic hygroma". If this happens in the 2nd trimester of gestation then how can it be diagnosed in the first trimester? Also, what does it mean if this subcutaneous edema (nuchal translusency-cystic hygroma)goes away? View Answer |
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2005-09-14 |
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My wife and I are currently pregnant with twins, one of them is showing severe birth defects and an amniocentesis showed that it has Trisomy 13 (we did not perform an amnio on the second baby as it appears normal). The amnio showed that it has one long double chromosome 13 and one normal one. I was told this could be inherited and we need to get testing. I would like to know the chances of this being an inherited problem and if it is, what the risks are to the second baby. View Answer |
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2005-09-14 |
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My wife and I are seeking to start a family through the use of IVF using an ovum donation. We found a donor who stated that a grandparent at the age of 43 died from ALS. We wonder what the odds are of the child of such a person has of contracting ALS, as I have no family history of ALS. Our research suggests that while none of the 4 offspring of the afflicted grandparent had the disease, all are younger than 55, and the gene may not have expressed itself. My wife and I wonder how accurate could a process, based only on a genogram, and perhaps more questions regarding the characteristics of the illness of the person who suffered from ALS, duration of illness, symptoms starting in legs, without or with bublar involvment, etc., could help to determine the probability of a familial pattern? View Answer |
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2005-09-14 |
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This couple just completed an unsuccessful IVF/PGD cycle. Balanced translocation is the male problem. 16 empryos were all unbalanced, confirmed by PGD. Would you recommend another try - or does this indicate that there is no chance for a healthy pregnancy outcome? View Answer |
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2005-09-14 |
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We found out through amniocentesis that our daughter has a balanced reciprocal translocation of the long arms of chromosome 13 and 20. This is de novo, as our chromosome studies came back negative. I have not had any luck finding information out about this particular translocation. I would like to know what if any problems we may be facing. I have the opportunity to see a genetic counselor, however, the drive is over 3 hours one way. Any information you could provide will be appreciated. View Answer |
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2005-09-14 |
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We just got the results of our amnio. What does the following mean "The metaphase analysis of cultured amniotic fluid cells shows male chromosomes with a paracentric inversion of chromosome 20: 46,XY,inv(20)(q13.1q13.3)" What does all this actually mean for the baby? Will there be any problems? We are having a hard time getting a straight answer. View Answer |
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2005-09-14 |
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When I was 12w3d pregnant I did Nuchal scan which was 8,6..the next day I did CVS and the results showed normal karyotype 46,XX. The doctors were sure the baby had Turner's syndrome because the NT measurement was too high..Also the nasal bone was visible in the 12th week scan..Could the CVS be wrong?? View Answer |
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2005-09-14 |
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Why would a pregnant woman have low AFP, hCG, uE3 MoM values if amniocentesis and ultrasound results are OK? Is there another test that could be done to rule out other problems? View Answer |
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2005-09-14 |
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