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What are the precautions to be taken to prevent abortion due to Pena-Shokeir phenotype?

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Infertility Specialist
Practicing since : 2000
Answered : 3574 Questions
Hello Dr. XXXXXXX Hope you are doing well. This is XXXX, hope you remember me (I have copied all our XXXXXXX chain to the end of my current message). I have told that my wife is currently pregnant now (16 week) & our previous baby was a aborted due to Pena-Shokeir phenotype. Now, yesterday we had the Growth Scan (16 week) done at our regular visit Fernandez Hospital and again the shocking word was told to us that this time as well, the baby seems to appearing with the same Pena-Shokeir phenotype symptoms as above & the same as before. I know it is hard to digest for me, but it is the truth and cannot be avoided. They have asked us to come again tomorrow and we would discuss about abortion again. As you already know that this is my 3rd baby which couldn't survive :(, hence you can understand what situation we are in, especially my dearest wife. Hence I am pleading, requesting you to guide me for the next procedures to be done so that we can be cautions also can you please suggest me a good doctor in Hyderabad who can deal with cases like these. Hoping a positive reply from your side, have a nice day. Regards, XXXX ============================================================== 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 XXXX, 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, XXXX Hi, 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. Regards, Dr XXXXXXX Koregol IVF & Infertility Specialist. Asked by Me , Thu, 26 Sep 2013 Doctor's reply to your question above... Brief Answer: Nothing to be done now Detailed Answer: Hi Vajayendra, 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 meet them and any biopsy report thereafter. Let me know if you want to know anymore information. Regards, Dr XXXXXXX Koregol Replied by Dr. XXXXXXX Koregol , Thu, 26 Sep 2013 Disclaimer: The Expert's advice is provided for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, as a complete assessment of an individual has not taken place. Please consult your nearest physician before acting on it. The advice is not valid for medico-legal purposes also. 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) Asked by Me , Thu, 26 Sep 2013 Doctor's reply to your question above... Brief Answer: PIGD if it recurs Detailed Answer: Hi XXXX, 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. Regards ==============================================================
Posted Wed, 18 Dec 2013 in Infertility Problem
Answered by Dr. Mahesh Koregol 3 hours later
Brief Answer: PIGD Detailed Answer: Hi Vijayendra, Welcome back to healthcare magic. I am very sorry to hear that our worst fears have come true yet again and syndrome has recurred. I presume we had already discussed that there was recurrence chance though not 100%. Since it has been diagnosed to again you can go ahead with the doctor's advice and undergo abortion as baby is anomalous. Please send the baby for autopsy again. Ask the autopsy center to give pictures of abnormalities which i would like to see. They might probably give you a CD containing images. Please collect the ultrasound scan images also if possible and send me. As I had written last time, you can go ahead with Preimplantation genetic diagnosis ( PIGD)of embryos to screen for absence of this disease in embryo and transplant healthy embryo into your wife's womb. If possible please meet me with all reports after abortion is done and you get your reports. I will explain in detail about PIGD procedure and how to go about it. As of now I understand you have to give support and courage for your wife to pass this phase of life. Regards, Dr. Mahesh Koregol
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