Fetal Abnormalities | Ask the Geneticist (SM)

Q&A about defects identified on prenatal ultrasound that are influenced in whole or part by genetic factors such as a fetal heart defect or skeletal abnormality.

Other information about prenatal ultrasound:

-MedlinePlus

http://www.nlm.nih.gov/medlineplus/ency/article/003778.htm

Subtopics

Abdominal wall defects (3) Abnormal fetal ultrasound (15) Choroid plexus cyst (3) Cleft lip/palate (1) Cystic hygroma (5) Heart defects (3) Kidney Problems (3) Miscellaneous/Unclear Diagnosis (12) Neural tube defects (2) Osteogenesis Imperfecta (1) Skeletal abnormalities (1) Two vessel cord (1) No Sub-topic (0) Showing 50 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	Pregnant at 38 weeks. Mother is 32 years old. Baby has cysts Mom has EXCESSIVE amount of Amniotic fluid Hands are clenched- never seen open Femur bones are extremely short. Baby seems to be average weight. What are odds of Trisomy 18 with these signs and symptoms. View Answer		2009-08-28


	my wife she is pregnant 34 weeks (1st baby ), with regular follow up in antenatal clinic , in a week of 28 during ultrasound gynecologist told us that baby have short rib & proximal bones including femur & humerous are shorter than gestational age but distal bones r appropiate with age, difference of 3 week. in further follow up according to perinateologist doc , baby growing well heart & lungs are well , fetal moment good as well but still proximal bones are shorter. my Q is , does it is inhereted disorder , & does it effect morphological on baby & is any complication of this disorder & does it will effect other baby in future. View Answer		2009-07-27


	Hi,Im 15wks pregnant and baby has exomphalos. I understand the link with bws, what is the likely hood that my baby will have bws? I cannot think to have a child with some of the problems assosiated with, I do not want to bring a child into this world with such disformaties,speech probs, eatig probs, and worse cancer tumours,I have heard that Dna can be tested by a cvs but the test is not conclusive and still in lab stages, should I see a genetic consultant to arrange this? Finally if my baby has an exomphalos how much more likely is it to get bws compared to any other child? Many thanks. View Answer		2009-05-21


	My 22 yr. old daughter has been referred to a specialist after an ultrasound in which a white spot was seen on her daughters intestine. She is 5 mos. pregnant. The doctor told her not to worry, but of course she's a basket case. Is this a symptom of Downs? All else appears to be normal. View Answer		2009-05-14


	Hi Doctor, I was wondering if you could spend some time answering my question. I was born in 1975 in South Africa, I was born 1 month pre-mature(apparently my heart stopped beating) and my mom had to undergo an emergency operation to save me. I was born with my intestines hanging out and had little chance of survival. I was incubated for 2 weeks etc etc. Could you please explain how this could happen and what chance I had of survival. Also, I don't have a belly button) I look forward to your response. View Answer		2009-04-10


	Is it possible for our unborn baby with osteogenesis imperfecta (most likely type 2) to survive. We are 20 weeks, can they tell that much about the baby, or does it have a chance to get better View Answer		2009-01-25


	I have a sister who had an ultrasound a few days ago and was told her baby's head was smaller in size than the baby's body. She is 37 weeks pregnant. They told her the baby's body in at the size fo 37 weeks but the head is at the 34 week size.She is going for another ultrasound to see if there was an error. She is very concerned Is there a problem and if so what could cause this? View Answer		2009-01-11


	we are pregnant with fraternal twins (am i 40 yrs old). We had an ultrasound at 14wks/4d. Have been told one twin appears to be developing ok but the other seems to lack enough amin fluid & the doc is very worried. 3 questions - (1). why is one developing fine but the other is not? and (2). what are our options if it turn out that twin B is not viable? and (3). what is the likelihood that something can happen if we get pregnant again? View Answer		2009-01-02


	My wife and I just met with our doctor and he told us that after the second ultrasound, they found that the left kidney is bigger than the right. He also mentioned nothing can happen at this time and another ultrasound will be done to determine if it is normal or not. Can this be a major concern for both of us? View Answer		2008-11-26


	I am 37 years old. My last pregnancy I was dx with septated fetal cystic hygroma and oomphalocele at 12 weeks. My CVS was normal. We chose to terminate at the suggestion of our perinatologist. What could the cause be if not a chromosomal abnormality? View Answer		2008-11-16


	I am 24 years old and at 17 weeks and 2 days of my pregnancy I had an ultrasound and was told that my son has sandal gap and short femurs. These are two soft signs of down syndrome. The midwife told me the chances of someone my age having a child with DS is 1 and 900. My question is, what are the chances of a fetus that has two soft signs of DS (such as the sandal gap and short femurs) coming out without DS? I also want to know what are some other things that could be wrong besides DS. Me and my husband are very concerned. We haven't gotten any results back from blood testing as pf yet and are schedule for an Amnio. View Answer		2008-11-08


	I am 25 weeks pregnant with my 4th child. At a routine ultrasound at 20 weeks they detected a clubfoot and shorten limbs. After another detailed ultrasound and a amnio (to rule out other things) two doctors told me the baby most likely has atelosteogenesis type 2. The doctors have told me that they want me to keep getting monthly ultrasounds to check growth. I am trying to keep hope, but my genetic counselor seems to tell me that the experts are pretty sure but I can hope if I want to. My baby is missing some of symptoms of this disorder such as the cleft palate and they said nothing about a small chest. My ? is I am getting another ultrasound at 27 weeks at what point should I give up hope? My counselor doesn't give me straight answers and I am feeling hopeless. View Answer		2008-10-27


	hi my sister is 12 weeks pregnat and she has epalepsy. she had her frist scan today and was told that the sack was misshapened and that her baby was the size of a 6 week old fetus and it has a very slow haert beat. she was given no anwsers why this was happrning and what is going to happen weather see would lose it or not please can you help she os very upset. View Answer		2008-10-27


	I am 23 years old and 25 weeks pregnant. I went in for an ultrasound and was told that there was an absent fetal nasal bone. I am supposed to be scheduled with a specialist for a follow up appointment but I was given no information as to what could be wrong. I was told that this is a common occurrence but have not been able to find any information online about the absence of a fetal nasal bone that isn't in reference to down syndrome. Neither the father or I have a history of down syndrome in our families so we are concerned and confused. Considering my age I know the chances are slim that it is down syndrome. Any idea as to what else could be going on? Thank You. View Answer		2008-10-25


	I am currently 21 weeks pregnant with a boy. I have had several U/S's now showing hypospadias. The scrotum also appears to be bifid. Accoding to the U/S, the the baby is 11 days behind in growth illustrating IUGR. So far there does not seem to be any craniofacial anomalies, webbed toes or clubbed feet. Heart, intestines, kidneys, and bladder seem OK and intact. I am currently being tested for Smith-Lemli-Opitz. Had a NTT with elevated hCG 3.29 and PAPPA was 0.86. Amniocentesis showed no Down's and general karyotype was normal. My question is: Does this seem to be a "simple" matter of hypospadias which can be surgically corrected or does a severe genetic defect seemed to be associated with this? Have been doing research and don't like what I read. What genetic defects can be associated with hypospadias, bifid scrotum and IUGR?Have another U/S on11/21/08 and will keep you posted on findings. Thanks. View Answer		2008-10-19


	Age 32, third pregnancy (2 healthy girls) and at 13 week screening Dr noticed missing radial bone. At 16 weeks i saw a specialist which confirmed the missing bone, heart defect (although heart rate was strong at 160),very little amniotic fluid, no kidneys or bladder. I come from a huge family with no other issues. I can't find anything like this online. Any help to what this could be? View Answer		2008-10-11


	We have been screened as a risk for Trisomy 18 and they have found 2 soft markers on 2 ultrasounds. (One each time and they were done within a week).One was a spot in the head, one was in the bowel. We assume that something showed up on the triple screen test. The mother is 35 and I am 31. We both have excellent medical histories in both families. Just wondering what type of odds for a baby with Trisomy 18 and how accurate is amnio if we get it done? Thank you! View Answer		2008-10-03


	I have just had my 19 week scan and there shows 3 small bilateral choroid plexus cysts. What are my chances of having feotal chromosomal abnormality? My nuchal translucency came back as low risk I am 33 yrs old. View Answer		2008-09-18


	my wife is 38 weeks and 5 days with our first little one. up until this point everything has developed normally and gone as planned. we had an ultrasound this morning that showed our daughter to have a polycystic kidney. everything else was still normal. our doctor didn't seemed alarmed and had us schedule an appointment with maternal fetal medicine so they can get a better look at it. the second kidney showed normal. curiousity got the best of me and i started reading online about polycystic kidneys and i didn't like what i found. much of what i read resulted in a dire prognosis. i am wondering what we should expect. if the second kidney is okay is the polycystic kidney a problem? should we be concerned? thanks in advance i appreciate this website. View Answer		2008-09-04


	At 18 wks, my male fetus was diagnosed with shortened femurs, a missing fibula and curved tibia, with two metatarsals in one foot. He also had clenched fists and a smaller chin than would be considered normal. The sacral region was undetermined. My umbilical cord had only 2 vessels instead of 3. I am Type 1 Diabetic and 38 yrs old. This was my first pregnancy. The CVS had come back normal. I had a D&E and the remains were sent for autopsy. I am wondering 1) how long until I get the the pathology report w/ the results of the autopsy? and 2) what type of syndrome would this be classified as or possibly have been? View Answer		2008-08-25


	I am 34 yo at 20 weeks with fraternal twin girls. Our 20 week scan detected a 2 vessel cord and choroid plexus cysts in one of the babies. We were told that both are "soft markers" for trisomy 18. There were no additional markers visible (baby showed extended fingers, fetal growth does not appear to be restricted-at 73%, earlier quad scan showed no increased risk, and earlier -11 week- neuchal translucency scan was normal). We were also told that each of the particular markers we are showing, if taken individually occur in a percentage of normal pregnancies as well. Understanding that the two taken together increases the risk that the baby has trisomy 18, but given that the other factors of heart defects, curled/deformed hands, mishapen head, etc. can not be seen on the scans, how concerned should we be that this baby has trisomy 18? View Answer		2008-06-22


	I just miscarried at 16 weeks pregnant. At my 1st trimester (8 week) visit, the baby looked normal with a "strong, flickering heartbeat" according to my doctor. I elected at 11 weeks to undergo "Ultrascreen" testing (nuchal fold, maternal blood levels, ultrasound) and was told at that visit that my baby had bradychardia (heart beat was descrbed as irregular and slow). Ultrascreen results showed an elevated risk for Down's Syndrome. An amnio was recommended and performed at 15 weeks. Amnio results ruled out Downs, and were "normal" overall according to my doctor. One week after my amnio, I found out the baby's heart had stopped. I'm confused about what could have happened if chromosomal results are coming back as normal. If it isn't something I did, and it isn't the result of a genetic problem in my baby, what was the cause? Could it have been the amnio? View Answer		2008-05-05


	I am 19 weeks, 2d pregnant, with recent amnio (neg) and Anatomical u/s abnormalities c/w skeletal dysplasia. My husband and I were seen @ Cedars Sinai (L.A.) today for further eval. The doctor found 3 weeks shortened upper and lower extremities (normal hands/feet), shortened ribs with ratio of chest/abd circ. of about 7/10, translucent spinal column, and poss micrognathia (sp?) and flattened nose. The biggest concern with carrying this child is respiratory incompetance and we are seriously considering termination. The top 3 in the differential were Spndyloepiphyseal congenito/hypochondrogenesis, Barnes Dysplasia, and Asphyxiating Thoracic Dystrophy. Without seeing the U/S, could you guess the chances of this child being able to breath normally? Thank you. View Answer		2008-04-14


	My first and last pregnancy ended in a miscarriage. When my husband and I went for our 1st trimester screening we found that the fetus was not developing normally. The organs and intestines were growing outside of the body and it had an abnormal amount of fluid behind the neck. The heartrate was also 85. The tech and doctor were very concerned. My husband and I returned to the hospital the next day for a follow up visit with the doctor who then confirmed there was no heartbeat. The perinatologist mentioned that it may be trisomy 13. He said it is a fluke and looked like some type of chromosonal abnormality.A D&E was performed and they test the fetal tissue. I spoke with my ob today who said the fetal pathololgy report came back "normal". How could that be when there clear, physical abnormalities with the fetus. View Answer		2008-04-02


	Hi We live in Cyprus. We are in Pregnancy (24 weeks). Yesterday we visited our doctor for the Ultrasound examination. He told us that the head is gowning slower than the other parts of the fetal body. The fetal head measurements are at the lower range of normal. We did the Chromosomal analysis of CVS (Prenatal Diagnosis) (about 12 weeks) and the results are: Chromosomal G Banding analysis revealed an apparently normal female karyotype, from two different cultures. We are anxious for microcephaly. What would you say to us from above? If you need more information we will provide you. Regards from Cyprus View Answer		2008-03-26


	We had a level II u/s that found a white spot on my baby's heart, also known as EIF. They also found that the kidneys measured little bigger than 4mm. The doc said not to be concerned. I'm 28 years old and my quad test was negative. I'm 20 weeks along. What are your thoughts? We have no family history of Down Syndrome. She asked if we wanted to see a Geneticist; not sure what good that would do if there doesn't seem to be a concern. We don't want to do an amnio because of the risk of loosing our baby. View Answer		2008-03-26


	I am a 34 year old16w3dpregnant. Mother of two normal children aged 3 and 20 months. I have PCOS and all three pregnancies are IUI and no other pregnancies or miscarriages. In ultrascreen @11w2d nasal bone was called absent blood tests were normal NT borderline at 2 - 2.6mm. Follow up us at 12w3d still absent nasal bone and had the CVS performed that same day at 12w3d at Johns Hopkins University Hospital.They also stated that while the nt was not greater than 99% the skin fold extended all the way down to baby's abdomen. They failed to give an explanation what may cause this. My chance of DS was called at 1/70.The results of the CVS indicated normal chromosomes and a baby boy. Knowing that I am of Mid Eastern Descent and husband caucasian, the chances of a health baby with absent fetal nasal bone is betweem 0.6% to 2% - very very low. We are extremely confused. I am considering Amnio at 18w to rule out DS or terminate entirely. View Answer		2008-03-25


	Hi, we just had an ultrasound at 17 weeks found our our child, a baby girl, has a disorder called encephalocele. It is where the brain is grown outside of the head (skull). The doctor told us there is absoltely no way to save her and gave us the option to either terminate the pregnancy or carry it full term, but if i did choose to carry it i would be risking my health. He said this is a rare condition, and it could be genetically explained. Well we decided to terminate the pregnancy, and we are going to see a genetic specialist. i have had a miscarriage at 6 weeks prior to this pregnancy. My question is if i terminate the pregnancy how will i know if this is genetic and if it will happen again? And what are normally the odds of this happening again? The baby also had a calcium deposit in the heart and dialated kindneys. If you can help me in any way i would dearly appreciate it. Thanks. View Answer		2008-02-18


	Hi, my wife is pregnant. Everything was fine until week 34 where the Femur measured on the percentile 7th; on the 35th it moved up to the percentile 23rd and on the 36th it moved down to the percentile 5th on the femur. His head is fine, his bones are not bowed. No doctor appears to be willing to give a diagnose but they seemed concerned. How accurate are sonograms to diagnose achondroplasia or hypocondroplasya? I know you cannot tell if my son is fine, but you could give an opinion on the validity/accurady of the sonograms on giving a diagnostic and could give an opinion on the chances that my son is affected with some of these conditions according to the information given. Thanks for your help. Desperate future parent. View Answer		2008-01-22


	My female fetus at 28 weeks gestation has been discovered to have a multicystic dysplastic kidney. My family has no history of this disorder. I am wondering if my mother, who was bi polar may have taken a medication such as Carbamazepine or Phenobarbitol during or near conception of me, may have caused me to be a carrier for this condition. I, myself have no kidney issues, but would this have caused me to genetically pass this on to my child? View Answer		2008-01-16


	I am currently 27 wks pregnant and was told yesterday by my perinatologist that he feels our baby has a skeletal dysplasia. The baby's femurs and humerus' have been measuring between 2 & 3 weeks behind since 20 wks of pregnancy. Yesterday they checked the other bones in arms and legs and those too are measuring ~3 weeks behind. The doctor said he felt confident ruling out lethal skeletal dysplasias because the ossification of the bone looks good, no skull abnormalities, chest size is good. I did amnio earlier in pregnancy which ruled out any chromosomal abnormalities. Does what I describe sound like a skeletal dysplasia? What is the next step? How can I be 100% sure this is a skeletal dysplasia? Should I be referred to a geneticist? I was also just diagnosed with preeclampsia and my placenta is very thick with numerous placental lakes since early on in pregnancy and I wonder if that could be causing this abnormal bone growth. View Answer		2007-12-19


	I am 26 years old and am currently 21 wks 5 days with my first pregnancy. I had an ultrasound done yesterday. that showed ascites in the abdomen. We were sent for a Level 2 US which showed that everything else appeared normal. The high risk OB still told us that she has a poor prognosis. Is it possible for the baby to resolve the fluid? What kind of odds are we looking at? Is there any treatments that can be performed in utero? We have no family history of genetic problems. View Answer		2007-12-13


	I am 26 weeks pregnant. At my 18 week ultrasound a cleft lip was detected. It is unknown in the palate is affected, but the doctor suspected a missing tooth bud. I had an amneio. at week 19 that came back normal (46- girl). After a normal amneio, what is the lingering possibility that this cleft could be related to a syndrome or disorder? What would the most common syndromes be that I should research? View Answer		2007-12-10


	I am in the very difficult position of having to terminate my pregnancy due to a large cystic hygroma. My husband and I are both in our early thirties (30 and 34) and this was our first pregnancy. He has two healthy boys from a previous relationship. I was an egg donor and I spoke to the infertility doctor who confirmed that my eggs have created very healthy babies. Now we are just so confused and don't understand why this is happeing to us. I have just gotten my CVS done this morning, but given the chances of a healthy child we have decided to terminate the pregnancy before getting the results. There is no history of any birth defects or genetical problems in either of our families and we would like to try to conceive again as soon as possible. We are questioning eveything right now. We would like to know what the chances are of this happening again to us and how long we should wait to try again? Also would you suggest genetics testing for us basd on all of the current knowledge? View Answer		2007-11-28


	I recently terminated a pregnancy due to the fetus having a severe kidney defect which resulted in no amniotic fluid. I was 15 weeks along. The tissue sample was sent for testing, but we could not get any results due to the fact that there was not enough cell growth? I just don't understand how a 15 week old fetus can not have enough tissue to be able to perform a chromosomal analysis....Please somebody explain better than my doctor whoch basically said "sometimes you can plant a seed, but nothing grows..." View Answer		2007-11-01


	I am 21 weeks pregnant and my baby has been diagnosed with an isolated pleural effusion. A blood test and amniocentesis have ruled out infection and chromosomal abnormaltity as the casue. The baby appears to have no other problems. We are aware that genetic conditions can cause isolated pleural effusions. What genetic disorders are the most likely causes and how would they effect the baby after birth? View Answer		2007-10-24


	My daughter has several abnormalities on ultrasound such as clenched fists, small stomach, curved spine, and a club foot and a rocker bottom foot. The amniocentesis came back normal and the genetic counselor said we will have to wait until she is born to try to figure out what is wrong. I wonder if translocation or mosaic trisomy 18 is a possiblity. Also, if this would show on amnio, then do you have any other thoughts on what this might be? View Answer		2007-10-19


	i am 24 and 22 weeks preg. with my second child. my husband and i were told that our new baby girl had echogenic foci and choroid plexus cysts and that they are both soft markers for down's...my genetic blood test had come back normal and my chances of downs were slim it is my understanding that they now increased due to the findings. we did the genetic ultrasoud and saw a genetic coucelor who just confused me even more... my doctor recomended that we not do the amnio because after 20 weeks the chances of complications are high. my question is since the quad screening came back normal and these are soft down syndrom markers are my chances of having a child with down's probable. in other words should i prepare for the worst or should i continue to enjoy my pregnancy since these aren't strong markers of DS? View Answer		2007-08-24


	Hi! I am married to the daughter of my cousion.My wife has twin pregnancy for almost 5 months right now. The ultrasound show the one foetus has anenciphaly, the other is active.Will the other child not effected by the ancenciphalic child.Before this pregnancy i have daughter who is about 1.5 years and have cerebral palsy.Please Tell me the Solution Should We Abort or Not and Wht should we do for the future pregnancy. View Answer		2007-08-21


	if my fetus is showing a choroid plexus cyst but does not show trisomy 18, how will the choroid plexus cyst alone affect its development? Is it possible to have the cyst and not have the trisomy 18? View Answer		2007-08-21


	I'm 18 wks pregnant. Ultrasound revealed one of the baby's kidneys has failed - due to cysts (I believe surrounding the kidney) and possibly a blockage. What are the chances this will remain one-sided and not affect the other kidney? How do we get a definitive diagnosis? If both kidneys fail, can the baby's organs be harvested and donated to help other families? We do not have any history of kidney disease in either of our families. View Answer		2007-04-20


	I am a 39-year old, British ancenstory, no known genetic disorders, Mother of a normal 3 year old (first pregnancy). My husband, father of baby, and other 2 subsequent pregnancies that ended due to cystic hygromas, no chromosomal issues were present, is of Italian/German decent with no known genetic disorders. Following our normal child's birth, we had 2 cystic hygromas that showed-up on Nuchal Translucency Screen at 11 weeks and we terminated the pregnancy due to poor prognosis. CVS was performed on the first pregnancy, no chromosomal issues and the second pregnancy, same thing. So, it would seem that my husband and I are carriers of either a recessive gene for some type of disease, or one of is a carrier of a dominant gene disease. Can you educate me on the possibilities of our situation and speak to any testing that we could/should have if we are to consider getting pregnant again. Or, is pregnancy not a wise option given this history? Thank-you. View Answer		2007-03-25


	My husband and I just terminated our first pregnancy at 20 weeks due to a fetal anomaly. Our baby had a cystic hygroma and an enlarged left kidney with the right one being on the high end of normal. Down's was ruled out based on levels in my blood. An aminio was performed and was negative for chromosomal abmormalities such as Turner's etc. It was a girl and basically we were told that they just had no explanation as to why it occured. What are the chances that this was random and can we have healthy non affected children? Also is there a chance that we could be the carriers of a new mutation as genetic counselling showed that there was very little chance of an existing abnormality we hadn't known about. Should we do some more genetic testing before trying again or should I take my doctor's advice and try again and have the next preganacy monitored from day 1? Please help I feel very discouraged that they can't give us any answer's. View Answer		2007-03-19


	Hi. The results of my amnio showed a mosaic partial trisomy 13. However, the perinatalogist stated that my anatomical sonogram was good (no cleft lip). The only thing that raised concern was a "bright spot" on the heart which we are going to have looked at via fetal echocardiogram when I am 24 weeks (in about one month). My questions: Should I have the echo sooner than 24 weeks? --Is there any chance that my baby could be without the problems usually associated with partial trisomy? --Are there any more sensitive tests or sonograms that could identify the specific location of potential problems, defects, or symptoms that my baby might be born with? View Answer		2007-01-23


	I recently saw a MFM who found a couple different problems with my 23 week-old daughter on ultrasound. There was a isolated, mostly uni-lateral pleural effusion on the right side, echogenic intracardic foci, and mild pyelectasis. She seemed to believe that the pleural effusion was unrelated to the soft markers for Down Syndrome. There was no other cardiac defect visible, no thickened nuchal fold, or any other soft markers for Downs. I am 21 years-old with no family history of chromosome defects on my side or my husband, this is my first pregnancy, and my Triple Screen came back normal. My questions are- what is the likelihood that my daughter has Down Syndrome based on the absence of nuchal translucency and a negative Triple Screen? Are the pleural effusion and Down Syndrome related in any way? Could the pleural effusion, if caused by a lymphatic insufficiency by related to Turner's Syndrome? Are there any other possibilities besides Turner's and Down Syndrome? What benefit, if any, would I have to an amniocentesis besides peace of mind? And- would a repeat ultrasound and echocardiography scan at 26 weeks give more conclusive findings? View Answer		2006-12-19


	I recently had to terminate a pregnancy at 13 weeks due to abnormalities with the fetus caused by 'cystic hygroma' which showed up on an ultrasound scan for downs syndrome. Although I have asked MANY times of the health professionals no-one will tell me exactly what this is, how it happens, why and if it is the direct result of something I have done. Tests for chromosome abnormalities were taken but I have been told nothing abnormal was found. This was my first pregnancy. I am nearly 40 years old. Please help. View Answer		2006-11-24


	My niece had a child that died two days after she was born last December. 1st child by her and her husband. No history of dwarfism on either side of the family. The hospital did not do an autospy and blood test were sent to Colorado but no result could be determined.We continue to try to find answers to what might be what the child had. We are now stuck on perhaps she had Thanatophoric Dysplasia. What we need is someone to invest the time in us to help. These kids want to have a child but have no idea what the child they did have had. Can you tell us what other course we can take or if some one is out there that will take this case on, look at the records they have and help them. They want a child but since they really do not have a diagnosis for the first child they are scared to try again. View Answer		2006-09-23


	in a pregnancy, if the amblical cord only has two blood vessels instead of three , is that a high probability indicator that the baby has down syndrome, or is that only a minor indicator, in other words could the baby still be normal? sincerly a concerned grandparent thankyou View Answer		2006-05-02


	A year ago my husband and I were pregnant with our first child. At about 6 mo gestation an ultrasound revealed olighydramnios and a number of anomalies (including a polycystic kidney, an abscence of the 2nd kidney as well as the stomach and bladder). With no family history of any type of related disorders, we were left devastated and confused. The only test performed was a chromosome test which came back normal. We are now pregnant again and wondering what type of risk we may be looking at this time. Could this have been a random occurence? My OB seems to think so and as much as I'd like to trust his judgment- I'd like to be aware of the possibilities. View Answer		2006-02-23


	I am trying to find out information about a fetal abnormality. I want to find out about the causes and prognosis of intestines and liver growing outside the body of the fetus? My sister is 5 months pregnant and she has been told this information by her doctor. View Answer		2005-09-14

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