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Anyone know anything about the birth defect gastroschisis?

Asked by kelly8906 (340points) February 20th, 2010

Hi. I am 22 weeks pregnant and 2 weeks ago, the results of my AFP test came back “abnormal”. We were told that our baby was at high risk for having spina bifida or anacephaly. After having an ultrasound done, the specialist confirmed that our daughter has a pretty severe case of a birth defect known as gastroschisis (her entire large and small intestines as well as her liver are outside of her abdomen. When she is born, she will immediately need surgery to try and get the organs put back inside). Obviously, this isn’t the ideal situation. It’s very scary to us because we are at high risk for stillbirth. I was told I could terminate but the thought out terminating for this problem alone was not a question for me because she is otherwise “healthy”. If anyone reading this is a pediatric surgeon, have any of you ever seen a case of gastroschisis that involves the liver? I can’t find ANY situation through my research about this defect that involved the liver. This makes me scared that she actually has a ruptured omphalocele and the doctor could be wrong?? He still thinks its gastro because of the insertion of the umbilical cord….

In addition, after further ultrasounds, he believes the baby possibly has a cleft palate (but no cleft lip) and a possible heart defect. Her heart is a little more to the left than what it is considered “normal”. As you can imagine, my emotions have gone completely haywire. I have a healthy 4 year old and I never imagined this could happen. I take very good care of myself. I dont do drugs, don’t smoke and don’t even drink. We went ahead an had an amnio 3 days ago but the results will take 2 weeks. The wait is killing us. He is worried that she has either trisomy 18 or 13 specifically but he said it could be tons of other things as well. We obviously are praying that its nothing. With these other possible birth defects, I feel even more that she has a ruptured omphalocele since in 40% of cases, omphaloceles are associated with other syndromes.

Please don’t judge me, but has anyone dealt with birth defects or chromosome problems? How did you make the decision to carry the pregnancy to term or terminate? As much as it would kill me to terminate the pregnancy, I would never ever want to watch my baby suffer her entire life… It just seems so cruel. I know many people are very pro-life and many are very pro-choice but if you read this think about what you would REALLY do in this situation. It’s so easy for someone that is not going through this to say “I would keep the baby no matter what”. Anyway, thanks for reading!

Kelly

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