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Baby Has Ventral Abdominal Wall Defect. Karyotyping Negative For Abnormalities. How To Go Forward?

Posted on Tue, 11 Sep 2012

Question: Hi doctor,

My wife was diagnosed with the baby having ventral abdominal wall defect(gastroshisis) with single pulmonary artery and other cardiac problems doubted. this was detected during 14th week of pregnancy. She was given HCG 5000 units injection even week from 5th to 12th week, along with Susten 200 mg and folic acid tabs. doctor suggested us to go for MTP and so we did. they suspected chromosomal abnormality and hence the baby was sent for karyotyping. but the report says there is no such abnormalities. my wife is RH negative and hence, they gave anti-d injection, after the MTP. last year also, she had a spontaneous abortion at 7 weeks, D&C done and anti-d given at that time also. we are really worried now. please guide us how to go forward?

Answered by Dr. Monika Choudhary (1 hour later)

Hi,
Thanks for posting your query.
Ventral abdominal wall defect with single pulmonary artery indicates towards chromosomal anomaly. More than 50% abortions in first trimester are also due to chromosomal anomaly.
But as you already said, karyotyping was negative. Now main thing is that your wife should undergo a TORCH(Toxoplasmosis,Rubella,Cytomegalovirus,Herpes)test.
Try for conception after a gap of at least 6 months & continue folvite tablets.
Hope for the best.
I will be available for your follow up queries if you have any.

Above answer was peer-reviewed by : Dr. Aparna Kohli

Follow up: Dr. Monika Choudhary (15 minutes later)

Dear Dr. XXXXXXX Ji,

Thanks a lot for the immediate reply. TORCH test was already done and it was negative. we shall continue foliate tablets.

I have another query. I read on the net that excess of HCG intake speeds up the organ development, while abdominal wall closing happening at a slower rate, leading to abdominal wall defect. it is So? is there any study carried out in this regard?
the 6th week scan showed a slightly irregular gestational sac. is the shape of gestational sac indicate any anomaly? please explain.

CMR

Answered by Dr. Monika Choudhary (2 hours later)

Hi,

Thanks for writing back.

Dose of HCG given to your wife was within normal range as prescribed by most of the gynecologist.

Side effects of excess dose of HCG are there like-
Multiple gestations,
Edema due to water retention,
Ovarian hyper-stimulation syndrome.

However, side effect like abdominal wall defect is not proven until now.

Gastroschisis is basically genetic disorder & you should take care in next pregnancy.

To rule out genetic disorder, you would have to carry out chorionic villous sampling at 9-10 weeks or amniocentesis at 16-18 weeks in next pregnancy.

If shape of gestation sac is irregular, it means growth is not proper.

For proper growth, sac should be regular, fetal node should appear at5-6 weeks & cardiac activity at 6-7weeks.

I think your query has been answered. Do let me know if you have more concerns.

Regards,

Above answer was peer-reviewed by : Dr. Shanthi.E

Follow up: Dr. Monika Choudhary (21 hours later)

Dear Dr. XXXXXXX

Thanks a zillion for a detailed answer.

Please guide us how to go forward and plan for the next pregnancy?

what supplements / vitamins or hormones you suggest for Her?.

thanks in advance.

CMR

Answered by Dr. Monika Choudhary (5 hours later)

Hi,
Welcome back.
There should be a minimum gap of six months between next conception.
There is no need of any extra hormone intake except folvite tblets.
Consult your gynaecologist regularly during next conception & follow all protocol like-
USG scan at 5-6 weeks,
Level 1 scan at 11 weeks,
Amniocentesis at 16-18 weeks,
Anomaly scan at 18-20 weeks.
I hope your query has been solved.

Note: Revert back with your gynae reports to get a clear medical analysis by our expert Gynecologic Oncologist. Click here.

Above answer was peer-reviewed by : Dr. Aparna Kohli