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Ask Dr. Norm S. Your Own Question
Dr. Norm S.
Dr. Norm S., Board Certified OB/GYN
Category: OB GYN
Satisfied Customers: 11235
Experience:  Over 30 years of experience in OB/GYN practice, including teaching students. Fellow of American Board of Obstetrics and Gynecology.
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Hello I have a question
Submitted: 2 years ago.
Category: OB GYN
Customer: replied 2 years ago.
My wife's genetic test came back with Trisomy 15 which is a rare translocation. This happened at 7 weeks 4 days. On 7 weeks, 1 day, the ultrasound was perfectly normal with a healthy heart beat. This has happened the 2nd time. The first miscarriage was twins also at the same time (7 weeks and 5 days). However, the genetic test of the fetal tissue was chromosome tested and it was an XY and perfectly normal. Both pregnancys was done through fertility. The first one was IVF and the second was frozen embryo.Can you advise what should be done next? We have performed most of the tests and all have been normal. We are scientists in the academic world and do understand medical jargon and developmental biology
Expert:  Dr. Norm S. replied 2 years ago.
Hello and welcome.
I am Dr. Norm, and I look forward to helping you today.
Did the second pregnancy end in miscarriage? If so, is that how the trisomy 15 was discovered, on the miscarried tissue?
Have you and your wife been tested for the translocation? Thank you.
Customer: replied 2 years ago.
it did end in fetal death. Yes, a Sequenom test was done but there was very little fetal tissue. However, I requested the raw data on the sequencing and this confirmed the trisomy 15. Right now, the tissue is being sent for FISH analyses as well.
We have not been tested for translocation but will do it.However, it is not clear why this was not detected in the first miscarriage. Typically, trisomy 15 is lethal.
Expert:  Dr. Norm S. replied 2 years ago.
It wasn't detected in the first miscarriage because it wasn't there.
A translocation such as trisomy 15 may be due to the translocation occurring in the sperm or egg, or one of the parents may carry a balanced translocation in their chromosomes. As long as the translocation is balanced (no extra genetic material), the parent is usually normal.
Testing of you and your wife will determine if either of you carries a balanced translocation. Even if you do, there is still a good chance of having normal children.
If the translocation occurred in the egg or sperm, it's unlikely to occur again.
Since you're doing IVF, there is a procedure called pre-implantation genetic diagnosis that can determine whether the chromosomes are normal before implantation. I believe it's more difficult to do on frozen embryos, but I think possible. It may be something to discuss with your fertility specialist.
Any trisomy tends to end in miscarriage, but trisomy 15 will often result in a live birth. The individual tends to be retarded and with other defects, but can survive.
Customer: replied 2 years ago.
Thank you, ***** ***** It is helpful to understand this process. We still have one more frozen embryo that we will attempt. She is 37 and all other tests that were done was normal with healthy values.Do you recommend any other tests to be performed or is there a check list available going forward? Do you think the FISH analyses will yied anything or is there something we should look for? Is there a PCR or sequencing assay for testing balanced translocations ? Does statistics prove whether any particular chromosome is more prone to balanced translocation than others?
Expert:  Dr. Norm S. replied 2 years ago.
I don't think that the FISH analysis will yield more.
Genetic testing of you and your wife will determine whether either of you has a balanced translocation.
Some chromosomes are more prone to translocations, but I don't think that means much.
I would just discuss it with your fertility specialist. There is no check list.