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How To Check For Muscle Dystrophy In An Unborn Child?

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Posted on Fri, 14 Nov 2014
Question: My first baby ( boy) had congenital problem ( muscular dystrophy) but the muscle biopsy result of the baby was inconclusive. I am on my 36 weeks with my second baby scanning was good . Is there any chance for the baby to get the previous problem . Doctor said baby scanning was good but fingers crossed .Mild polyhydamnios AFI 20.9cm is ok in 36 weeks,sugar is normal,will led to any problem
doctor
Answered by Dr. Dr. Naveen Kumar Sharma (2 hours later)
Brief Answer:
Muscle biopsy needs to be repeated

Detailed Answer:
Hello,
I have studied your case and I can understand your concern. For telling about your baby's affection we need to repeat your order baby's biopsy and karyotyping. As muscle dystrophy can be of many type and some can affects all siblings and some are not.
So please send me karyotyping reports and a repeat muscle biopsy. On the basis of which we can say some thing with certainty.
Also please tell me what symptoms your baby is having?
I am waiting for your reply. I will try my best to help you.
Thanks.
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
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Follow up: Dr. Dr. Naveen Kumar Sharma (21 hours later)
Hello doctor my first baby died after 2 month since the muscle biopsy result was inconclusive doctor couldnt get answer genetically. We have been counselled by genetic counsellers before my second pregnancy . They said to monitor only through scans for my second pregnancy . They did karyotpying for me and my husband it was normal so they said no need to do any prenatal test for future pregnancy . Now i am gong to get deliver in another 2 weeks scanning was perfectly good .now i am concerning about my water level it was ( AFI- 20. 7) sugar level is ok not above140 mg /dl. Doctor said mild polyhydramnios will it lead to any problem for the baby . Is there any indirect way of seeing the baby sucking, crying, since my first baby doesnt have the capability to do so. My last scan is on next week. Please give me accurate answer for my questions. Thankyou
doctor
Answered by Dr. Dr. Naveen Kumar Sharma (16 hours later)
Brief Answer:
Your baby is perfectly normal

Detailed Answer:
Hello,
There are only indirect methods available for baby screening. As you are saying all scans and karyotyping is normal so it is not there is genetics. This proves that there was not a disease which went through parents. So other sibling will not have same disease. It is a good sign. Also ultrasound can pick up child movements. I hope you can also feel that child is kicking or moving.
Polyhydroamnios is only mild and not harmful.
I hope your baby will be healthy.
thanks.
Above answer was peer-reviewed by : Dr. Prasad
doctor
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Follow up: Dr. Dr. Naveen Kumar Sharma (10 hours later)
Hello doctor u have said there is no genetic reason for the disease (MEB) for my first baby , but genetic counsellers said there might be a single gene might be the cause for the disease . U asked for babys symptoms ( floppy , baby didnt cry, didnt suck , muscle hypotonia, vision problem, dysmorphism,) antenally baby was diagnosed with ventriculomegaly alone. Scan didnt reveal the rest of the symptoms . My last question is there any chance for the baby to get any above mentioned symptoms . In my second pregnancy i could feel nice movements of the baby can i take this sign that baby is perfectly hale and healthy. I hope ucan understand our emotional feelings . Please reply thankyou.
doctor
Answered by Dr. Dr. Naveen Kumar Sharma (26 minutes later)
Brief Answer:
Good movements is a welcome sign

Detailed Answer:
Hello,
I understand your feeling because every parents want a healthy child. As you are feeling nice movement than it is a good sign. I hope serial ultrasound ( Specially 4 D) have been done and they have shown that every thing is normal.
When I say there is no genetic problem, I mean that both parents are healthy and I assume there is no similar problem in your grand parents also.So chances of other sibling affection is not much.
I hope this answers your query. Let me know if there is any other followup questions.
thanks.
Note: For further inquiries on surgery procedure and its risks or complications book an appointment now

Above answer was peer-reviewed by : Dr. Vinay Bhardwaj
doctor
Answered by
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Dr. Dr. Naveen Kumar Sharma

Orthopaedic Surgeon, Joint Replacement

Practicing since :2002

Answered : 4486 Questions

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How To Check For Muscle Dystrophy In An Unborn Child?

Brief Answer: Muscle biopsy needs to be repeated Detailed Answer: Hello, I have studied your case and I can understand your concern. For telling about your baby's affection we need to repeat your order baby's biopsy and karyotyping. As muscle dystrophy can be of many type and some can affects all siblings and some are not. So please send me karyotyping reports and a repeat muscle biopsy. On the basis of which we can say some thing with certainty. Also please tell me what symptoms your baby is having? I am waiting for your reply. I will try my best to help you. Thanks.