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Did I lose my child due to Jeunes syndrome?

Q: I just gave birth to a full term baby who had Jeunes syndrome, thoracic dysplasia, chest size of 32 weeks and short femur of 28 weeks only. The baby did not survive due to tight chest. I want to conceive again and I am scared of encountering the same situation. What should I do and what are my chances of having a healthy baby? This was an IVF baby. Is there any pre-natal testing once I am pregnant to make sure that the baby does not have Jeunes syndrome disease?

A:I am sorry for what happened to you and please accept my condolences. Juenes is a very severe deformity and long time survivals are unlikely. At this stage I want you to understand that before you plan your next pregnancy you must be sure that the diagnosis is definite. Juenes may appear very similar to many other skeletal deformities. So please make sure that the post mortem diagnosis is certain and there is no confusion. Well, if it is indeed Juenes, there are a few things that should be clear to you at this stage. Juenes is an autosomal recessive disorders which means that one in four of your babies would be affected. Unfortunately we have not yet identified the gene so an early prenatal diagnosis is not possible. Once you are pregnant you will have to get detailed scans after 14 weeks and once there is evidence of a skeletal deformity the baby should be aborted. It is as near a prenatal diagnosis as you can get in this condition. There is certainly no need to get desperate and you must try again as soon as you are physically and mentally prepared for another pregnancy. 75% of all your babies will be normal. Unfortunately there is no other solution but to try again and again as which child would be affected and which one would be normal will be decided by random sampling. There is no clear link between IVF and Juenes or other similar deformities. At this stage you have no choice but to try again and again. I am sure things would go your way in the near future. I wish you all the best.

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