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Baby autopsy report showed Pena-Shokeir phenotype syndrome. Wife pregnant for third child. Will the syndrome reoccur?

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Answered by

Infertility Specialist
Practicing since : 2000
Answered : 3767 Questions
Hello Doctor,

I have asked some time ago the below suggestion (please see my question and reply below) on this portal and thankfully I got a reply from Dr. Dr XXXXXXX Koregol. To speak in short we were waiting for our baby autospy report and they have come now, and the doctors have concluded that baby had "Pena-Shokeir phenotype" sydrome. I have attached the report in My Magic Section.

My wife is again pregnant now, she is 7 weeks now, hence doctor what are the precautions we have to take so that the same ""Pena-Shokeir phenotype"" sydrome doesnt occur and what are the chances of re-occurance of the same, since this is our 3 child (2 childs before couldn't survive), we will plan to be extra cautions at least this time.


Hello, This is XXXXX, and I am writing to you regarding my wife. We belong to Hyderabad. During my wife's First Pregnancy our Baby (Female) was dead after the C-Section. This was in siddipet, the only thing doctor told us was that Baby had breathing problems and couldn't survive. This was in Sep 2011.
Hence for the next pregnancy we thought to be cautions and started treatment for my wife @ Fernandez, my wife was done all the routine tests like CBP, COOMBS etc, but all the reports were normal and Fernandez doctors asked us to plan for pregnancy. We planned it and my wife again conceived in XXXXXXX 2013. The First tri-mister scan was very good & normal, but at TIFFA Scan, doctors Scanned and told that Baby had abnormalities and opted us for abortion, we didn’t had any choice but to abort. Before the abortion my wife lycral was sent for Kreyo Type test and this report was normal as well. Fernandez folks suggested us to give the baby for Autopsy which we did and are waiting for the report.
Now, can you please help us in understanding what is happening with my wife, we are totally lost Doctor, since whenever we ask Fernandez doctors they are too busy to answer our questions.
We just want to know what the problem is and want a right direction & suggestion to get help for us. I am already 32 years now and my wife 27 yrs, hence asking you for some help or suggestions for our Next pregnancy.


Thanks for your query.
I have read your query & I understand your concerns.
Following is my reply:

1) I am sorry for your losses.
2) First baby was healthy and seems to have had complications during delivery due to which it expired.
3) Second baby had congenital abnormalities whose autopsy report we have to see to conclude the nature of defect and probability of it repeating ( chances are low though).
4) Since you had only one congenital abnormal baby, it is not necessary that this will repeat again and hence You please try again naturally since you both are young and have time.
5) As of now it is difficult to predict what happens in next pregnancy. Hopefully things will workout better next time as first baby was healthy.
I hope I answered your query. I will be available for any followup queries you have.

Dr XXXXXXX Koregol
IVF & Infertility Specialist.
Posted Sat, 12 Oct 2013 in Infertility Problem
Answered by Dr. Mahesh Koregol 4 hours later
Brief Answer:
Nothing to be done now

Detailed Answer:
Welcome back.

I remember my answer for your query last time. I was expecting to see the biopsy report that time only which you have mentioned this time as Pena-Shokeir phenotype.

This is a autosomal recessive disorder. The chance of it rpeating again cannot be ruled out. As of now you dont have to do anything. Please continue folic acid tablets daily.

I suggest you visit fernandez hospital again and let them know about current pregnancy. They will do amnio / choriocentesis tests later in pregnancy and also ultrasound to confirm that the baby is free of anomalies and no problem.

Please let me know the reports after you XXXXXXX them and any biopsy report thereafter. Let me know if you want to know anymore information.

Dr Mahesh Koregol
Above answer was peer-reviewed by
Follow-up: Baby autopsy report showed Pena-Shokeir phenotype syndrome. Wife pregnant for third child. Will the syndrome reoccur? 7 minutes later
Thanks XXXXXXX for the prompt reply, yes I have already visited Fernandez Hospital, we have also completed our Fetal Avalability Tests and they are normal.

Fernandez Doctors also say the same thing, that the Pena-Shokeir phenotype,
reccurence chances are 5-25%,

but I really wanted to know if theres any medication available for the same or Can this be treated, I am hoping everything goes well this time, and if we have again abort are there any chances that my wife can be treated for this syndrome (before again Planning for future pregnancies)
Answered by Dr. Mahesh Koregol 4 hours later
Brief Answer:
PIGD if it recurs

Detailed Answer:

I understand your anxiety associated with this condition. But unfortunately this cannot be treated.

We can do a test called Preimplantation genetic diagnosis (PIGD) on embryos after performing test tube baby treatment. In this we can transfer healthy embryos which dont have this disease.

We will think about that option only if this recurs again. Otherwise not to worry. Keep follow up with reports. I will help you in any doubts.

Above answer was peer-reviewed by
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