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Is Trisomy Of Unborn Genetical?

Posted on Mon, 5 May 2014

Question: i had an IVF with PGD done in January. The embryo results from PGD came back normal. However, I lost the baby at 9 weeks (missed miscarriage) due to Trisomy 10. I have a frozen embryo from the same cycle. What are the chances that another baby will have trisomy 10 as well? Also, Was i supposed to get abnormal results from PGD from my embryos? Is Trisomy 10 always genetic? What do I need to do to find out if me or my partner are carriers of T10?Hope I can get some answers. This is devastating. Thank you very much

Answered by Dr. Aarti Abraham (48 minutes later)

Brief Answer: EXPLAINED BELOW Detailed Answer: Hello Thanks for writing to us with your health concern. PGD tests for common chromosomal anomalies, Trisomy 10 is a very rare one. It has to be specifically tested for, as it is not covered by the common genetic screens. You can find out if the other embryo has it by specific testing for the same, and also special genetic tests designed to check if you and your husband are carriers. Chances of the other embryo having it are very very remote, since it is such a rare disorder. With age and with IVF, chances of anomalies increases, so these two could be possible reasons. Even if you and your husband are not carriers, and chances are high that you two are not, then too genetic abnormalities often result during the process of cell division and embryo formation. Luckily , these dont always recur. Only specific DNA testing for Trisomy 10 will tell you if you , your partner and the other embryo are in the clear. All the best Please feel free to discuss further.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Aarti Abraham (18 hours later)

Thank you very much for your answer. Does that mean that I can do PGD test for Trisomy 10 for future IVF now that the doctor knows the baby could be affected with it or there is other test to check if the embryo has T10?If I transfer the embryo I have Frozen and it works, is there any way to know if the embryo has T10 during early pregnancy? Is Trisomy 10 Fatal ? What is the likelihood that other baby will survive if he has it? If any of us are carriers of T10. What are the chances of us having a normal baby? My sister an law just had a missed miscarriage too. I’m not sure if the reason was T10, but it made me nervous to think that it could have been for the same reason. My situation has never occur in the family though (at least not that we know. We never heard of T10 before). How long do I have to wait to get the transfer done. My D&C was March 14 and the first day of my period is today April 15. When is it safe to try again? Thanks again

Answered by Dr. Aarti Abraham (1 hour later)

Brief Answer: AS BELOW Detailed Answer: Hello Thank you for the appreciation. 1. Yes, before transfer, you can specifically ask for testing for Trisomy 10 during PGD. However, no doubt it will be expensive. Also, bear in mind, that during the formation of a baby, there are hundreds of chromosomal abnormalities that can occur. It is impossible to test for all of them. 2. If you conceive from the transfer, during early pregnancy, it is possible again to have a specific genetic testing for Trisomy 10 ( again would be expensive ) , the fetal tissue would be obtained by CVS ( chorionic villus sampling ) or amniocentesis. 3. Trisomy 10 has a wide range of manifestations, ranging from mild - severe mental retardation, structural abnormalities in the heart, brain, kidneys etc, blood cancers etc. Hence, predicting survival is difficult as the presentation is so protean. There is no point continuing the pregnancy once this is diagnosed because of the known morbidities and mortality associated with it. 4. If you and your husband are both carriers of T 10 ( very unlikely ) - chances of having a normal baby are less than 50 %. 5. I do no think the reason for your sister in law's missed miscarriage could be Trisomy 10 , as it is quite rare, there are various other abnormalities that commonly occur during cell division in a baby. 6. Wait for atleast 3 months after the termination of the pregnancy, take regular folic acid supplements. Use contraception until XXXXXXX atleast and then try afresh. Take a look at this site, you can contact some of the organizations for more information . https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1103/viewAbstract I wish you more luck next time. Dont worry, it is very rare to have it, and am sure it wont recur . Take care.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Aarti Abraham (1 hour later)

Thank you very much for the helpful information. Unfortunately, I’m paying for IVF out of packet so I will have to see how much the PGD for Trisomy 10 costs to see if I can afford it with fresh cycle now. I think the early pregnancy test is covered by my insurance so that is good. May I ask why you suggested a fresh cycle instead of using the frozen embryo I have available. Do you think the frozen embryo wouldn’t be viable because it was from the same retrieval as the other one? You mentioned that if both me and my husband are carriers the probability of a normal baby is less than 50%. What if it is only one of us carrying T10? What would be the likelihood for a normal baby? Also, when you said that it is better to wait three months, is it because that is how long it takes for my body to heal or because it will make it easier to track future pregnancies? Is there a risk with having transfer done two months after D&C instead of 3 months? I’m concerned about waiting too long because my ovarian reserve is low and I’m not sure if I will have to go through more cycles to get pregnant. I’m 37, so I don’t have much time to make my dream come true. Is there anything I’m forgetting to ask that you think it is necessary for me to know? Any additional advice? I think this is the last follow up that I’m entitled to. Thanks again. What a great resource this website is. Very Helpful and informative.

Answered by Dr. Aarti Abraham (3 hours later)

Brief Answer: AS BELOW Detailed Answer: Hi again. Yes the PGD for T10 will be costly no doubt. I never suggested a fresh cycle. BY try afresh, I meant try again. You can certainly go for the frozen embryo transfer, as I already clarified, T 10 is quite rare. 3 months is the minimum your body takes to heal and recover from a miscarriage. 2 months and 3 months is not very far apart, why would you insist on 2 months instead of 3 ? This is the last follow up , yes, but you can directly contact me anytime by writing in at - http://doctor.healthcaremagic.com/doctors/dr-aarti-abraham/64623 Yes, I understand your concern about the ovarian reserve, but one month wont make that much of a difference, particularly as you are planning to use the frozen embryo. If only one of you is a carrier, chances of having a baby sans T10 are even higher. Additional advice - relax, let go, missed miscarriages happen to more women than you can imagine, most of them go on to have successful pregnancies, these are freak accidents of nature that often happen during cell division. You are 37, and not too old to have a baby by any means, particularly in this day and age, where technology connives to make your dream come true. Keep believing. All the best Please feel free to reach out anytime. Take care.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar