Recurrent Pregnancy Loss | Ask the Geneticist (SM)


	Question		Date



	Hello and thank you. My wife and I have been trying to conceive for over 3 years. I have low morphology and we have been unable to get pregnant without the help of IVF w/ ICSI. We did get pregnant twice and lost both of our pregnancies. With the first one we had a chromosomal analysis and it came back normal. We were unable to with the second. My wife and I both had our karyotyping done and they were both normal. We did discover that my wife has mthfr homozygous c mutation with normal homocysteine levels and PAI 1, 4g allele. My question is, do you think our miscarriages are related to a genetic abnormality? I have read that the man and womens karyotype can be too similar. Is that true? We are going to have to do another IVF cycle and before we spend our time and money(it's out of pocket) we would like to know if it is our genetics. Thank you again!! View Answer		2009-10-10


	We are a couple with hx of three miscarriages. We recently found that my wife has "long balanced pericentric inversion of chromosome 11." What does this mean and what implications may it have for successful birth? Does this abnormality represent a health risk for my wife as well? View Answer		2009-09-30


	I have a set of 12 year old identical twin girls, no fertility drugs. in may we had the surprise of a lifetime, we wer pregnant again....with identicle twins! This time was differant, the doc coulnt find the membrane, even after a L2 ultrasound, and last week ...at 19 weeks pregnant, i lost my twin babies, they got all knoted up..it was horrible, i had to be induced, and deliver them, i never want to go through that again...but i am now wanting a baby more then ever, what are the chances this could happen again? View Answer		2009-09-15


	Dear Geneticist, I recently lost a pregnancy at 19 weeks and am so confused, here's some history: I had a healthy 8.3 lb baby girl (unplanned but greatly appreciated) at 21. I am now married and have lost two consecutive pregnancies. My husband has two healthy daughters from a previous relationship, and as previously stated I have one from a previous relationship. He and I are both type AB positive, I know this is a long shot, but could this have anything to do with it? Is it possible that we are just incompatible parents? The amniocentesis (from the last pregnancy) revealed that she had trisomy 21 and hypoplastic left heart syndrome. The first lost pregnancy was actually a "blighted ovum" (not sure of spelling). We want more children, but I am very discouraged, Please help me understand! View Answer		2009-08-26


	Hello there, me and my wife were trying to for kids for a long time. MY wife got pregnant 4 times but we always lost the babies... last time it was done via IVF... We did every possible tests out there and the only issue they found is that I have 47, XYY Syndrome. I was told by my doctor that they only solution is to have the sperms with defects removed. I am wondering if the Doctor seperate the 'Female sperms' or the sperms that would produce girls would resolve the issue? my logic would be that those sperms won't have the Y cromosone at all. Am I correct? if I am wrong, then I am wondering what's the likability that all of my sperms has this issue? if I totally don't understand the problem please let me know. View Answer		2009-08-18


	i am a male 40 yrs old. i have no children. over my lifetime i have impregnated over a dozen women prior to getting married in 1992. all those pregnancies and the five pregnancies with my wife miscarried prior to the second trimester. Is there a dna or genetic disorder that would cause a male to be responsible or the cause of miscarrige? i had my chromosomes checked back in 1995 and was told everything is normal. thank you for a response. View Answer		2009-07-30


	My 16 month old son was born with Trisomy 21, when i was 34. He has no health problems and developing at the upper range of DS. At 35 i had a miscarriage at 11 weeks (baby died at 8 weeks). I have just had ERPC of third pregnancy, aged 36, due to Trisomy 18 picked up on CVS. We have been re-referred to genetic counsellor (were told with our son that as he had full Trisomy 21 it was a random occurrence). The contents from ERPC have been sent for analysis. I know the counsellor will provide answers but am keen to know: 1. is there a chance i am a balanced carrier which resulted in babies with trisomy 18/21 or iwould both babies have been born with the same condition? 2.is this happening due to increased maternal age and my eggs are too old? 3.are there options for embryo screening/selection/IVF for future pregnancies? 4.what will the analysis of the fetus provide as we already know it had trisomy 18? thankyou View Answer		2009-07-02


	Hello, I am 39 years old and my husband 46. Two years ago we started to try to get pregnant. I got pregnant at once, the nuchal translucency (PAPP-A) shown a chance 1 out of 4 that the baby has Down syndrome, after that we decided to proceed to CVS (chorion villi sampling). The CVS showed a normal 46XY boy. A month later the ultraschall shown that the baby was a hydrocephalus with heart problems. We had to end the pregnancy (Week 19) . Six months later we had a miscarriage. After 4 months we had a partial molar pregnancy. The β-HCG was normal after 4 weeks but we had to wait for 6 months to try again. After about 9 months after the partial mole I got pregnant again, we heard the fetal heartbeat at week 6, but after 2 weeks I had a miscarriage. The DNA of the fetus showed a girl with Turner syndrome. Is there a chance to have a normal baby? View Answer		2009-06-25


	At the age of 29, I got pregnant naturally last September and had a missed miscarried at 6 weeks. I then got pregnant naturally again in March and had another missed miscarriage at 9 weeks, 4 days. The baby was growing ahead of schedule and had an excellent heartbeat of 183 at the second to last ultrasound (one week before ultrasound showed fetal death). I had a D&C, and the baby came back with Turner's Syndrome, 45 X. We have no children. Both my husband and I had karyotyping done, and everything came back perfect. We've had all the "Repeat Pregnancy Loss" testing and bloodwork. We've done everything and still can't figure out why we keep miscarrying. Any thoughts? We are discussing our next steps with our Reproductive Endocrinologist in the next few weeks. View Answer		2009-06-15


	I have had a recent miscarriage, 1st pregnancy, and after testing on the tissue, it was determined that the miscarriage most likely was caused by Turner Syndrome. My doctor has suggested my husband and I get a genetic consultation. How, in this instance, with this syndrome, will this be helpful to us as far as prevention, if at all? What kind of statistics are there on reoccurence for this syndrome for future pregnancies? View Answer		2009-05-19


	my husband and I have no live children. I have had 4 very early miscarriages all under 5.5 weeks. first miscarriage happend @ 5.5 weeks, second started the day my period was due. I didn't get pregnant for a while year after that because hubby was deployed.soon after his return I was pregnant. my levels seemed to be going up and all a sudden they began to slowly drop and it wasn't until we week later I miscarried ( on my own) we saw what looked to be a fetal pole but no hb and measuring UNDER 5 weeks. with my most recent I didn't make it past 5.3 weeks. We are now moving on to chromosomal testing and to my knowledge nobody in our families have any problems. my mother did have a few miscarriages as well as my aunt and my g-grandma. I'm just wondering though, all my miscarriages were VERY early I thought couples with chromosomal issues didnt have miscarriages until at least after 7 or 8 weeks these just seem to early to be chromosomally realated. View Answer		2009-04-14


	Hi, my son was born at 24 wks June 10, 2005-premature labor. He has many issues. G tube fed only, deaf/blind, CP, massive blue spells-undiagnosed. Had domperidone toxicity while in the NICU (227 days total). Looking into possible genetic issues-metabolic/mito? All bloodwork so far has come back fine. Negative for CF. Miscarried Nov08 at 6 weeks. Just miscarried at 18w4d on March 28/09 after premature rupture at 18w3d. Babyboy, 225 grams. Is it possible that we could have a term baby or are we just silly to ever try again? View Answer		2009-04-08


	I am 25 years old. 19 pregnant with twins. 1 died3 1/2 mths & 1 born at 24 wks&1 day 05/2003 with many complications and diagnosed uncertaion Mitochondrial disorder. 15wks and 4days on 02/27/04. No reason given 10 wks with baby in sac on 06/10/04 no reason given. 12/29/05 with the assitance of weekly progesterene shots.water broke @ 31 wks & c-section at 34 wks 1day baby had labor intolerance. Onlyextreme GERD. 01/08/08 at 6wks. No reason given. 02/08 I had a miscarriage and d&c due to incomplete miscarrige at 12wks.stopped growing at 10 wks 06/08 msc 03/20/09 d&c due at 10wks baby stopped growing at 6wks 5days. at 7wks 4days baby strong heartbeat was sized 6wks 5days. 9wks 6day no heartbeat. Karyotype testing =extra chromosome 9. We have been Karyotype tested and I am fine, my husbands has not returned yet. We are seeing a geneticist as well who has not given us any concrete answers one way or the other. My question is HOW can we have a healthy pregnancy and baby? View Answer		2009-04-03


	Good morning dear Dr Geneticist. I am 35 years old and last year I was pregnant but I lost the baby in a spontaneous abortion. Now my obstetric ask me and my husband to do the caryotype. The results show that my husband is normal 46 XY, but I am 46 XX with some cells 47XXX and others 45 X. And my crhomossome 21 has pstk+ ps+ Is it a problem to me to have normal babies? What problems the babies could be? Thank you a lot Best regards View Answer		2009-03-24


	I am 42 years old. I have been pregnant four times - one live birth, an 8-1/2 yr old daughter. I decided to ask an infertility specialist about my chances of getting pregnant - she told me that my genetic testing was not normal, but "mosaic." She mentioned that Turner's syndrome is more severe. I have looked it up and I do not fit that criteria - I am 5'5-1/2", I have had no learning disabilities - learning has come quite easily to me. I have a master's degree and was told to publish my thesis. I need to understand this, though. 1) Can I still be predisposed to Turner's syndrome issues? My daughter is average heighth for her age but struggles a bit in school at times, or at least more than me. 2)Can she have a greater issue with this disease? 3) Can you give me questions to ask my doctor? I also have one copy gene of MTHFR - 4)can you explain MTHFR? 5) Are my options of having another normal child really gone? View Answer		2009-03-19


	Last year I had 2 stillbirths. The first one was february 25,2008 and they said the placenta was overaging and the baby was small for his gestational age which I was only 24 weeks. The second was when I was 20 weeks, the doctor said the same thing about this one as he said about the first stillbirth. He wanting a thrombophilia screening done on me. My skin is reddish splashes and my upper leg has alot of varacose veins. My bloodpressure been good so i know its not that. they said i may have poor circulation caused by the clots but they dont know for sure if i have this condition. I been worried about this forever and wondering can this kill me? Should my one and only said that was born in 2004 should get tested? maybe my fiance should get tested to. You think so? thank you in advance. View Answer		2009-03-02


	I have recently received genetic testing from a D&C on my fourth miscarriage. I am a 36 year old caucasian female. The genetic test results indicated 47 chromosomes effecting Chromosome 2 (47 +2). I have not been able to find out very much about this and wondered if this is something that can is hereditary and repeating. Since our previous 3 miscarriages did not have genetic testing but all resulted in miscarriage at around 8 weeks, I am wondering if this is a issue that will continue or is in fact a rare situation on just this fetus alone. Any help for gathering information on this result would be greatly appreciated. Thanks View Answer		2009-02-16


	I recently found out that I tested positive for homozygous MTHFR A1298C after suffering 3 miscarriages this year. I did meet with a genetic counselor after my initial loss where we found out our baby had trisomy 16. My recent labs also showed that I have slightly low WBC 3.2. Everything else that was sent was WNL. I am wondering if there is anything else I should be tested for at this time, and if my sister and parents should be tested for MTHFR. Thank you! View Answer		2009-02-05


	I had a normal healthy pregnancy/child in 2003, it was my 1st pregnancy. I am 36 now and 2 yrs ago I planned to have our 2nd child. We got pregnant but I m/c at 7 wks (no result). I got pregnant again and had a missed m/c at 12 wks (result - Trisomy 21). We waited 6 mths and tried again. At our 12 wk scan, we found out the baby had omphalocele but all chromosome tests came back normal. At 22 wks, my baby was diagnosed as having Tetralogy of Fallot and a cystic kidney and we were advised to have a termination. The PM results showed no evidence of 22Qdeletion, BWS or Vater syndrome and no other anomalies (except confirmation of TOF, omphalocele and cystic kidney). The geneticist has suggested that our baby had some subtle facial characteristics (low ears, small chin) and they want to do further tests with 'probes' to look more in depth at each chromosome. I have just found out I'm pregnant again and I'm scared to death of getting bad results - any suggestions? View Answer		2009-01-23


	Hello - I've conceived twice and both pregnancies ended in loss. The first loss was due to trisomy 21 (4/07) and the second loss, triploidy (69XYY) (8/08). I am 31 years old and my husband and I would like to start trying again though I must confess, I am nervous to do so. We have seen a genetic counselor who feels that these are 2 unrelated events and just a case of bad luck. I've had the recurrent pregnancy loss panel and everything checked out ok. My biggest fear is that I have poor egg quality considering these two losses. I would like to hear any thoughts you may have on the matter. Do you think IVF with PGD is warranted considering my history? Thank you. View Answer		2009-01-19


	I have just suffered a miscarriage 17 months after my first child (a girl) was born. My blood group is AB positive. My mother's blood group is also AB+ and she had two daughters and a late miscarriage in between my sister and I, it was a boy. My own miscarriage was too early to tell which gender it was, but I am wondering if there is a chance I am unable to carry boys? My older half-sister (different mother, I dont know hers or her mother's blood types) has had 3 girls. I don't know what my partner's blood type is, if that makes any difference? View Answer		2008-12-07


	I have had 2 miscarriages, the first 5 weeks, second 9.5 weeks Supposed Randome Incident. Please explain if able. Chromsome Complement: 59, XXX(17y46,XX(3)). Interprepation: Female with Diploid/Triploid (Mixoploldy cells were Syndrome). Three cells counted were 46, XX and 17 cells were 59,XXX. My report says Triploidy and Mixoploidy are random events. Then it goes on to recommend genetic counseling. Please help. I just want to know and get some answers. View Answer		2008-12-04


	I am 37 years old. I have had 3 miscarriages: August 2007, fetus formed but lost at 8.5 weeks, D&C at 10 weeks. November 2007, blighted ovum 8 weeks, D&C. May 2008, molar (could not conclude if partial or full, tissue removed via endometrial biopsy at 5 weeks and "worrisome for molar", no grape-like structure in uterus or anything visible in ultrasound, hcg dropped to negative week after biopsy). During 6 month wait, I've had all recurrent miscarriage testing (CCCT, bloodwork, HSG), except for the karyotype to test for balanced translocation. The RE does not recommend I have the testing due to the costs, probability of that being the problem, and due to the differences in all of my miscarriages where his diagnosis is now "just bad luck". Do you think I should have the karyotype based on my history? Also, do you think having a balanced translocation could have caused the molar? View Answer		2008-12-03


	Me and my fiance' were expecting our first child this past March 2008, however, I miscarried at 17 weeks. I became pregnant in January 2008 and miscarried by March 2008. We tried once again in June 2008 and I miscarried again by September. I don't understand other than i have been told some it could be my age. I am 36 and he is 37. I am a non-smoker, he is not. I have a 6 year old son from my first marriage who is perfectly healthy in which I carried to term and had no complications, etc Could you give me some opinions or insight? Your help/advice would be appreciated. Thanks. View Answer		2008-11-13


	I have had a total of 6 pregnancies, which resulted in one live healthy birth of our son two years ago and the rest all miscarriages (three before our son and two after). The third lose came up and trisomy 16 female and the fifth lose also came up trisomy 16 but was a male. What are the chances of this happening twice??? Thank you in advance. View Answer		2008-10-27


	I have two healthy boys aged 4 and 3. However a year ago my third pregnancy a baby girl ended in an intrauterine death @ 25 weeks gestation. Next I had a miscarriage at 8 weeks , then another at 12 weeks and the latest pregnancy ended in an intrauterine death at 15 weeks gestation .I the had some chromosonal testing done. The results are as follows : Female karyotype with no cromosomal abnormalities detected.Increase in lenght of the short arm of chromosone 14 and 15, normal variants with no pathological consequesnce. Husband normal. Now I am worried is this the cause of all the miscarriages and will this "short arm " cause yet another miscarriage. View Answer		2008-10-23


	Hello, My husband and I are 29 years old, he has a 14 year old daughter and I have an 12 year old daughter. We do not have any children in common. We are trying to have a baby. I had a miscarriage in 4/08 at 6 weeks pregnant. I had another miscarriage in 8/22/08 at 18 weeks, I went for my regular prenatal follow up and they heard no heartbeat. Please advise on what we should do. Should we get genetic counseling before trying to get pregnant or after we get pregnant. My doctor told me we will get the counseling after we get pregnant. Will this happen again? what is going on with us? This is really affecting us mentally. Thank you View Answer		2008-09-29


	At age 35 I delivered a healthy normal girl. At age 37 I had two losses: the first was a female with Trisomy 21, the second was an unexplained missed miscarriage. I had karotyping performed on the latter and it came up normal, though my obstetrician advised sometimes it is the maternal material which is tested. At age 38, I have just had my third loss in a row - a Trisomy 15 boy. All up, that means two of my three losses have been trisomies. What are my chances of conceiving a normal baby now (still age 38)? Is this a reflection of my total egg quality? Please help!! View Answer		2008-08-18


	I have lost three pregnancies in the past year all at about 8 weeks. My blood type is O- and my husband is B+. I have received a Rogam shot at each miscarriage. Could the rh factor be affecting my ability to carry a pregnancy to term? We have had extensive testing done to rule out clotting factor, hormone deficiency, DNA problems. View Answer		2008-08-17


	I had a baby with Achondrogenisis in 1995. I had him at 19wks gestation. I have had a miscarriage in 2006 where the baby died at 7wks and a 5wk miscariage in 2007. Iam currently pregnant at aprox 6wks with spotting and hcg levels at13000 right now. Iam afraid this one willnot make it. But i hope it does because i cant bear another loss. Anyways what are the chances of these losses being Achondrogenisis babies? Do you think that is why Iam miscarring them? Was just wondering. I have 6 other healthy children. I also wonder if they too carry this disorder in their genes. ty for your time.. View Answer		2008-07-26


	i am 24 yrs old and i have had three miscarriages(6wks,4wks,3wks) the obg has found mthfr in my testing so i dont produce folic acid and the lastest miscarrage he found i dont produce progestorone im not on medicne for both but my husband and i have to see a genetsis this month due to the number of miscarrages. my huisband has a child already so i know its not him but what could be going on with me what it just the lack of these two medicines or more?thank you View Answer		2008-07-04


	I am 24 years old I have had three miscarages two at six weeks, one at 12 weeks I am due to go to the hospital for test one being to look at my chromosomes. I really don't know what to expect and am alittle worried about the results. Please could you explain to me why they do this test. View Answer		2008-06-17


	I am a 38 year old female I had one live healthy child at 28, one miscarraige with no genetic testing at 29, one live healthy child at 30, one miscarraige at 37 trisomy 21 lost at 12 weeks, one miscarraige at 38 at 8 weeks trisomy 16. My husband and I both received chromosome analysis and were normal. What are my chances of having another trisomy pregnancy due to my age and history? Thank You. View Answer		2008-06-12


	Is it possible for an unborn fetus to develop tyrosinemia? I have had two non-immune fetal hyrop babies approx 16-19wks in pregnancy. The last baby had extensive labs at a Children's Hospital in Phila., PA and found to be in liver failure and not processing proteins. There was also excessive fluid build-up within the chest and abdomin found on ultrasound. There has never been any confirmed diagnosis.....Only possible fetal hemochromatosis which was never agreed by two specialist. No other physical birth defects could be found....Please help! View Answer		2008-06-08


	I am 34 years old and have one healthy 3 year old daughter. I have had 2 miscarriages in the past year and a half. I lost both around 8 weeks. I did not have a pathology test on the first miscarriage. The second miscarriage, the pathology report said down syndrome. Do you think I need genetic counseling or i have just been unlucky? View Answer		2008-05-21


	I had a healthy child almost four years ago. Then after his birth, a miscarriage--no genetic testing done. My next pregnancy resulted in another healthy child. Since then, I have had two consecutive miscarriages. The first was due to Turner's syndrome. We are still waiting results from the last one. We are currently in consultation with an RE about the situation. We will meet with him after test results. My question is, since we have two healthy children, is it likely that my husband or I have some genetic condition that may be passed on to other children or is it more likely that the miscarriages are just some random occurence? View Answer		2008-05-19


	My wife has recently have a second miscarriage on 2nd April'2008. The pregnancy was of more than two months. She was in complete bed rest with very little movement inside our home only. She noticed sticky type blood discharge on her undergarments on 1st April and later on Ultra sound test "incomplete abortion" was found. We were completely refraining from any kind of direct sex. My wife first conceived in the month of june'07. She had her MC on 30 May'07. However the pregnancy terminated on 11 June'07. We had got Seminal Fluid Analysis, TORCH test and Chromosomal analysis (Karyotype) done for both of us. Seminal Fluid test and Karyotype were OK in case of me(Husband).TORCH test of wife were OK.However in Wife's Karyotype, inv(9)(p11:q12) was mentioned. The test were done at Ranbaxy, Mumbai. Kindly guide whether this is true?whether there is any cure possible, what kind of precautions we should take during pregnancy. Please help.......... my wife is at the point of breakdown. View Answer		2008-04-24


	my husband and I had three miscarriages in a row. All were lost before the third month. The first miscarriage went naturally at 5 weeks, the second one, I had a D&C and the results can back a brighted ovum, the third went naturally at 7 1/2 weeks. I passed the baby(fetus) and brogh it in to get examined, but the doctor told me that they put my baby in the wrong solution and the only thing they could tell me was that I was pregnant. ( i think the fetus would have given that away) I started to see a fertility doctor, but it's been almost a year of testing and still nothing. My question is, what types of testing can / should I be getting done, and does it normally take this long? View Answer		2008-04-15


	I am 38 years old. I have a 9 year old boy and a 4 year old girl. My husband and I have been trying to have another child (girl is his, boy is from another man) we have had 2 miscarriages in the last 1 1/2 years. First fetus was 10 weeks second 12 weeks and 6 days. The 2nd fetus we saw heartbeat and got the okay from ultrasound at 12 weeks all okay. No karotype on either fetus. Karotype on me can back with "ish 13c(D13Z1x2) chromosome 13 has no detectable short arm FISH using a centromere 13 specific probe (D13Z1, Oncor) was performed and confirmed the presence of the D13Z1 in the chromosome 13. My FSH (day3 test) have been 12 and 15. Have had all possible tests at clinic, they think missing short arm on chromo 13 is the infertility problem - please help! Tell me what this all means?Thanks View Answer		2008-04-14


	Hi i am 11wks pregnant when i was 7wks i heard my baby's heart beat 3wks after i visited my doctor and she said my sac was empty. I lost my baby and i don't know what caused it. Can you explain to why my fetus was not growing? View Answer		2008-04-04


	My husband and I have had 3 miscarriages in the past 2 years. We have undergone a vast amount of bloodwork and tests in the past few months. One of the major concerns that the fertility Dr. had was over my husband being diagnosed as having the 47,XYY. We never had heard of this before and were quite shocked. The fertility Dr. believes this to be the reason for the miscarriages. Is it true that there is a chance that we may never have a full term baby due to this syndrome? WHat advice or suggestions may the geneticist have for us? View Answer		2008-03-03


	I have a patient, she is now 41. She has a normal 10y/o male which was a result of her first pregnancy. Since then, she has lost 6 pregnancies...between 12 and 32 weeks...each fetus had cystic hygromas. She desires another child, however, she states that she can not go through this again. Do you think that this is genetic? What types of tests should she undergo before attempting conception? Also, she is a hairdresser...I was unsure if being around all of the chemicals would have any affect. I know 2 other hairdressers with sim. situations. View Answer		2008-02-21


	I recently suffered my second consecutive miscarriage. The first one was diagnosed as a blighted ovum at 6 weeks. This one was a missed miscarriage with a gestational age of 12w3d which we discovered at my First Trimester Screening. I have two living children and I am 33 years old. We recently got the testing back and were told that our baby had Triploidy X. Could you please explain the difference between Trisomy and Triploidy to me? Also, it is my understanding that because of the diagnosis of Triploidy, we are not at a higher risk if we were to conceive again. Is that correct? Should we be seeking genetic counseling? Thank you for your help! View Answer		2008-02-13


	Hello. I have had 2 pregnancy losses in the past year. I was 29 for both. The first we had an abnormal AFP result which showed there was a cycstic hygroma and the baby had Turner's Syndrome. The doctor told us there would only be a 1% chance of survival and only a 1% chance of it happening again. We opted to have a D&E to end the pregnancy. This was the first of May. I found out I was pregnant again in July and we went for the 12 week screening and there was no heartbeat. They did a test on the tissue which showed it had Triploidy syndrome which they said was totally random. I am terrified to be pregnant again. What are our chances of having a totally healthy baby? We have no family history of anything. Any help you can offer would be great. Thanks for listening. View Answer		2008-01-23


	I had 2 miscarriages, the 2nd one was examined. The result is "46,XX,in(4) (p13-15;q32-34) 6 cells BLR 300-350", the diagnosis as follows: "Cytogenetic analysis of the cultured tissue reveals a female karyotype with a large pericentric inversion of chromosome 4. The breakpoints on chromosome 4 are at p13-15 and q32-34. This inversion appears balanced at the achieved band level rsolution of 300-350. This rearrangement may have arisen de novo in this conceptus or may have been inherited from a parent. If this is a familial rearrangement, cytogenetically unbalanced gametes may be the cause of this couple's recurrent losses. Balanced rearrangements, especially if they are de novo, are ususally not associated with a phenotypic effect."Please explain the results in simple terms. what do the breakpoints mean or how it appears "balanced" at band level resolution 300-350? What does"unbalanced gametes" and "balanced rearrangements" mean? View Answer		2008-01-19


	i am 39 and i have had two failed pregnancies one with turners syndrome and the other with hydrops fetalis do you know what my success rate would be with another pregnancy many thanks View Answer		2008-01-15


	I have a sister who has had 3 miscarriages between the weeks of 6 weeks to 13 weeks. And this last time with the miscarriage the doctor ordered a chromisome study on the fetus. She found out that the baby had Turner Syndrome. I know she would like to have another baby. What are some of the things that she can do to prevent the next child from having turner syndrome. Is it her that has the problem or could it be her husband. I have 3 children 2boys and 1 girl. and i dont have that genetic disorder. What is it that she can do to help with having a normal pregnancy? Thank you.. View Answer		2007-12-11


	My second pregnancy was a female with trisomy 21 with a cystic hygroma.My third pregnancy I lost at 16 weeks I had bleeding for over a month each time I went for an ultrasound everything looked fine.I also had a nuchal translucency test done that came back fine.I had a urinary tract infection and was put on antibiotics.At the hospital they did a scan of the baby everything was fine.Three days later the doctor did a scan on the doppler couldn't find heat beat.At the emergency ultrasound the baby had died with in three days and there was no amniotic fluid left.I had no gushes of fluid within those three days.Could this be caused by a something genetic. View Answer		2007-10-16


	I am a 32 yr old woman. I have a healthy daughter, age 3. In the past 14 months, I have three losses - first, a miscarriage at 7 weeks, a diagnosis of triploidy (69, XXY) and medical termination at 12 weeks, and another miscarriage at 9 weeks. The father is the same in all four cases. Can I ever have another normal child? View Answer		2007-09-13


	My husband and I have had 3 healthy pregnancies in which the gender of those were all male. We have 2 miscarriages in a row this year with no explanation except probably chromosomal abnormalities. Considering that my husband's father only had male children (3) and we have only had males and his brother has only had a male child, could there be some kind of chromosomal abnormality that only happens with the female gender in our family and can that be something that we as a couple get tested for? View Answer		2007-09-10


	I am 32 and had a total of 6 miscarriages (1 - 6 months (termination due to Williams Syndrome)), 2 - 11 weeks, & 3 chemical. I have 1 healthy boy (had at 28), which was my 1st pregnancy. I have been through 2 IVF's cycles with PGD, which has shown abnormalities all over the place (various single chromosomes and triple). 1st cycle out of 23 embryos - 1 normal embryo came back, 2nd cycle out of 24 embryos - 3 normal embryo's came back (1 stop growing with the 2nd being frozen and dying after defrosted). Both IVF embryo?s inserted never took. What is the likely hood that I will conceive a healthy pregnancy? No genetic disorders have been found on either my husband nor I. Are there medications that can help us? View Answer		2007-08-14


	My daughter who is now 30 years old was diagnosed with G6PD at the age of 7 months when she had a hemolytic crisis due to eating fava beans. She has been fine since then. She has just suffered her second miscarriage. The first was at 7 weeks of pregnancy, the second one at 5 weeks of pregnancy. Is G6PD related to miscarriage? If it is, will taking vitamins with anti-oxidants help her? Do you know of any other treatments? View Answer		2007-08-14


	My 26 y.o.daughter, who recently suffered a miscarriage @ 5mos. was told she has a genetic condition related to a folic acid deficiency and needs to take megadoses of folic acid to correct this disorder. Please provide me with additional information/references re: same. Will megadoses of folic acid cause other health problems? Thank you in advance for your assistance in this matter. View Answer		2007-07-22


	I gave birth to two healthy, full-term daughters. My third pregnancy (at age 38) resulted in a still-born birth at 16 weeks gestation. I developed a superficial thrombus in my saphenous vein just after the delivery and had terrible headaches almost daily during the pregnancy. I have been tested for Antiphospholipid Disorder, which I do not have. My MD suggested I may have an "Antipaternal Maternal Antibody" which resulted in my body's rejecting the fetus. I am now 21 weeks pregnant, taking one baby ASA per day and also Heparin 5000u subq. BID. I also have decendents from Germany and wonder if I have Factor V Leiden Mutation. Are the two conditions related and what testing do you recommend for myself and my children? (One child also has Beta Thalassemia). Thanks. View Answer		2007-04-10


	I have recently miscarried. This was not my first, however, this fetus was tested and found to have trisomy 18. I am 32 years old and was wondering...what are my chances again of conceiving a baby with this disorder? View Answer		2007-03-30


	I have had two miscarriages at 7 weeks, which have followed two healthy pregnancies and children. My ob/gyn has suggested that we do genetic testing, including Factor V Leiden, to check for possible problems. What would be different in our genetic code now that wasn't a problem in our first pregnancies/children? I thought if there was a problem with genetics, it would have been an issue before now. View Answer		2007-03-06


	I just had a stillbirth during the 41st week of pregnancy.(My first pregnancy) I have a SLIGHT positive for MTHFR. Does that mean that I can't get pregnant again and have a normal birth? Will I need medication during my next pregnancy? I have to see a specialist in 2 months (That's his soonest appointment) should I wait before trying to conceive? View Answer		2006-05-10


	I recently had a missed miscarriage. The ultrasound showed the fetus stopped growing at 10w2d. (We were in the 13th week.) The report also stated that there appeared to be a cystic hygroma to the the fetal head. We are going to start trying to concieve again soon. What are the chances of this occuring again? My doc said that the next time they are going to do an early ultrasound next time around, does that mean that my chances are higher? Is there anything we should be doing now? View Answer		2005-12-29


	I am a 33 year old, white female - having had two miscarriages: 1st at 20 yrs old @ 8 wks gestation and the 2nd at 21 yrs old @ 10-12 wks gestation. No known causes. I became pregnant in Feb 2005 at age 33, with an unremarkable pregnancy, the normal stuffiness and morning sickness. At 16 wk ultrasound, Dr indicated low amniotic fluid. Went to see a Maternal Fetal Specialist, advised bedrest for 3 weeks with forced fluids, no activity other than shower and restroom breaks. Upon return, confirmed no improvement in levels, and did further intensive ultrasounds to confirm fetus had no kidneys. Fluid around heart and further signs of distress from being compressed in womb. Labor was induced at 20 wks - Baby Boy born stillborn - Autopsy confirmed Potters syndrome classic signs - clubbed right foot, cranial compressions, low set jaw, absence of bladder, both kidneys, and both ureters. OB/GYN suggest genetic counseling/testing before further pregnancies in future - Could you please tell a bit more about the testing; what's tested, and possibly some instances of similar outcomes and what parents faced upon knowing that it was one or the other with a genetic predisposition and the possibilities of further pregnancies with this outcome, without having the testing performed. View Answer		2005-10-30


	I am 27years old. I have had two miscarriages in a row (one at age 25 and one right now) both due to a very small, empty gestational sac found at 6-7 weeks. My hormone levels usually follow the pattern of a "normal pregnancy". What usually causes this and is my next pregnancy likely to end this way too? View Answer		2005-09-26


	I am 36, no children, and have had 4 miscarriages in 13 months. 2 fetuses were tested and the results were male Trisomy 2 and female Trisomy 9, the other two were not tested. My husband and I have already had genetic counselling and testing, all were normal except my karyotype showed 1 cell as only having 45 chromosomes. The lab test did not specify which chromsome was missing, it simply stated that "the hypodiploidy was random" and gave my final karyotype as a normal 46xx. Could this be a concern? Can you please advise as to what our next step should be? All genetic and extended testing on both of us is normal. We are heartbroken and any advice is much appreciated. View Answer		2005-09-26


	I have had 2 miscarriages, 1st one was natural, 2nd one the doctor performed D&C. We did not send the fetal tissue for testing because doctor says that two miscarriages does not mean that there is a problem. If no one in my family or my husband's family had babies will malformations or any syndromes is it possible that either one of us has a problem that is affecting the proper development of the embryo? I am 29 years old and my husband is 32. The only disease in the family is diabetes (my dad) and I have not being diagnosed with it. View Answer		2005-09-21


	Hi, I had 3 miscarriages, last one is in 06/05. I have been diagnosed with PCOS and also have a Balanced Translocation between chromosomes 3 & 4. The[miscarriage tissue]has been sent to KARYOTYPE test which came out abnormal for the same as I have. Should I go for IVF with PGD or Should I try to conceive on my own and get the CVS test done, if it implants well?If a normal embryo is been placed in uterus thorough IVF PGD, Are there any chances that normal embryo that has been implanted might carry the translocation? View Answer		2005-09-14


	I am currently taking Depakote for seizures and I asked my doctor if that posed any risk for my wife and I who want to get pregnant. Three different doctors stated that since it is I who is taking the Depakote and not my wife the only side effect would low motility of the sperm. However, we have now had four miscarriages (none have gone past seven weeks). I can't help but wonder if my taking Depakote is playing a role in the miscarriages. Getting pregnant has never been an issue, only maintaining the pregnancy. View Answer		2005-09-14

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