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Is Congenital Diaphragmatic Hernia (CDH) a genetic disorder?

Monday, 11 July 2005
Answered by: Dr. Puneet Bedi
Consultant Obstetrician and Gynaecologist,
Indraprastha Apollo Hospitals,
New Delhi
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Q. My baby expired due to a birth defect called Congenital Diaphragmatic Hernia (CDH). The doctors operated the baby and it was alive just for 3 days in Critical Care Unit. I am scared about the future. Is it a genetic disease? What should I do for my next baby? I heard that my wife has to undergo the prenatal ultrasound scan during the pregnancy period. Is that different from normal scanning (CT scan)? Please provide more details.

A.  I am sorry to hear about your child and please accept my condolences. Congenital diagphragmatic hernia is a rare condition and affects about one in 3000 Babies at birth. The Survival is low despite the best treatment. Especially if there are other abnormalities like Multiple Defects(almost 43% of the babies have additional Birth Defects). You have not written whether an autopsy was done or if there were other defects, each of which have a recurrence rate. Indeed if there were additional chromosomal defects, the recurrence rates may be 1% to 10% in various series. If there is no such problem and the only defect was a congenital diaphragmatic hernia the recurrence risk is low. Your wife would be put through the routine tests and a few additional tests and would require the care of a fetal medicine consultant during the 4th month of her next pregnancy (for counseling and tests). I do not think you should be too worried. Your chance of having another child with the same problem is very small. Please plan a pregnancy as soon as you are physically and mentally (emotionally) ready. The ultrasound scan (not CT scan) is the usual ultrasound which she needs at 16 weeks and again at 22 weeks of pregnancy. She would also need the usual tests like the triple test and surveillance during the pregnancy but it should be ok. I wish you all the luck. May God give you and the family the strength to cope with the loss.

A.  I am sorry to hear about your child and please accept my condolences. Congenital diagphragmatic hernia is a rare condition and affects about one in 3000 Babies at birth. The Survival is low despite the best treatment. Especially if there are other abnormalities like Multiple Defects(almost 43% of the babies have additional Birth Defects). You have not written whether an autopsy was done or if there were other defects, each of which have a recurrence rate. Indeed if there were additional chromosomal defects, the recurrence rates may be 1% to 10% in various series. If there is no such problem and the only defect was a congenital diaphragmatic hernia the recurrence risk is low. Your wife would be put through the routine tests and a few additional tests and would require the care of a fetal medicine consultant during the 4th month of her next pregnancy (for counseling and tests). I do not think you should be too worried. Your chance of having another child with the same problem is very small. Please plan a pregnancy as soon as you are physically and mentally (emotionally) ready. The ultrasound scan (not CT scan) is the usual ultrasound which she needs at 16 weeks and again at 22 weeks of pregnancy. She would also need the usual tests like the triple test and surveillance during the pregnancy but it should be ok. I wish you all the luck. May God give you and the family the strength to cope with the loss.

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