Reoccurring GeneticRisk

The question

I am turning 41 in a couple weeks and unfortunately just had to make the heart wrenching choice to medically terminate our Trisomy 21 pregnancy at 13 weeks. Two years ago, I had a miscarriage/ D&C due to Trisomy 10. My husband is 38 years old and we have 3 healthy children. We never had an issue getting pregnant and always got pregnant the first month of trying … even this last time at age 40 years old we got pregnant in one month. I have had 3 prior c-sections and during this D&E the surgeon mentioned briefly seeing a uterine niche - she was unsure if it covered my complete scar or a small portion, but wanted to make note of it. I am struggling with thinking this is the end of my pregnancy journey. My husband and I still yearn for a 4th child and I don’t want my journey to stop here. However, I have mixed feelings about IVF genetic testing - finding good doctors in my area may be difficult and traveling to neighboring areas might be a bit tricky for us - the costs associated with IVF- and also the spiritual part of having additional embryos in storage that may go unused & all of it seems a little overwhelming … however, I am afraid if we try naturally again we will end up on a similar position with a genetic issue again. I have read about taking Coq10 … but just confused where to turn and how concerned I should be about the uterine niche and 4th c-section & a recurring genetic issue. Can lighting continue to strike? Or just a bad cluster of bad luck? My next step was to rule out we are carriers of anything and get some genetic testing done through Natera- but assuming that comes back ok- what would you guide me to do?

Thank you,
Kim

Asked by Kim S. ·

Answer from Dr. Geoffrey Sher

The cause of your trisomy pregnancy was likely age-related egg aneuploidy. The chance of an embryo having the right chromosomal configuration declines with  with advancing age. Since you already have several children, you might want to stop. However, since you et pregnant quite easily on your own, and  seem intent on having another baby ,  perhaps you should keep trying on your own and if you do conceive, get tested in the 1st trimester using chorionic villus sampling (CVS) or in the 2nd trimester by amniocentesis to establish the fetal chromosomal integrity..

IVF with PGTA (to test the chromosomal integrity of the embryo) is the only way to minimize the risk of having another aneuploid pregnancy.

Good luck!

Geoff Sher

 

PS: If interested, email my assistant, Patti Converse at concierge@sherivf.vom and she will set you up with an online consultation so we can discuss your situation in depth.

General information only, not medical advice for your own situation. For that, book a consultation.

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