Genetic Disorders Expert Forum
Stillbirth now I'm confused?
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Stillbirth now I'm confused?

Hello,

   My wife and I both 26 years old were pregnant with our third child. The first one ended in abortion and the second miscarriage. We didn't get an amniocentesis and on our second ultrasound around 4 and a half months they discovered the babys hearts was pushed over to the left and the stomach was high up in the chest. They told us it might be a diaphragmatic hernia and there were no other problems. Bladder, kidneys, brain..... all looked fine. So they sent us to get another ultrasound at a different clinic to confirm the diagnosis. The baby had already died when the other radiologist was scanning my wife. So they induced labor and she delivered at about five months. The baby looked completely normal on the oustide, but the mid-wife told us that there had to have been other anamolies since the baby died so late. They are now testing my wife for diabetes, lupus, thyroid conditions, and a torch panel to check for any infection. I would like an opinnion on what we should do. The doctor told us there should be no reason we can't have a healthy child, but neither me nor my wife wants to go through that again. I would also like to say there is no history of anything like this in my wifes family or mine. I have low testosterone and have been seen by a endocrinologist who says nothing is wrong with me. My wifes doctor said it is not related. I have no syndromes or problems that I know of, but I am overweight. I think that is why. I just don't understand how they told us nothing else was wrong then the baby died and all the sudden they say oh something else must have been wrong.
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We are very sorry for your losses and hope that you are finding the support you need.

Regarding diaphragmatic hernia, many cases occur as an isolated defect. An isolated diaphragmatic hernia is a multifactorial condition, which means it involves a combination of genetic and environmental factors. The recurrence risk for diaphragmatic hernia in siblings of an isolated case is ~2%.

In some cases, diaphragmatic hernia occurs as a feature of an underlying genetic condition. In these genetic conditions, there are often additional characteristic mental and/or physical defects. Recurrence risk in these cases may be increased.

We recommend that you and your wife meet with a genetic counselor who can review your family medical history as well as pregnancy history in order to assess risk. A genetic counselor can fully explain the risks, benefits and limitations of any appropriate testing options in the future.

You can find a genetic counselor through the National Society of Genetic Counselors website or through companies like mine, AccessDNA. We wish you and your wife the best of luck.

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