I'm curious what kind of genetic screening ladies are doing who have had PGS testing, or even those who didn't, and I'm particularly interested in hearing from my fellow 35++ mommas (I am 40, first pregnancy). I just had my first OBGYN and I told my OBGYN I did IVF with PGS testing and she still recommended CVS testing or an amnio which makes me VERY nervous and I'm suddenly stressed again. At my IVF clinic they also did a genetic blood test and they found me to be "reduced risk" for the 20 or main genetic conditions they test for so they didn't even test my husband and that is why I did PGS instead of PGD. I definitely will do the non-invasive blood test, but considering I had PGS which is considered 95% accurate, and the blood test has anywhere from 90-99% accuracy, I tend to think that CVS or amnio might be overkill and not worth the risk. I am one that ALWAYS listens to my doc, but this time I'm not so sure. Is anyone who is 35+, with PGS tested embryos, doing CVS or Amnio?
Re: Genetic testing after PGS, particularly 35+ mommas
I would just say... Do what your heart tells you to do. I personally am my own advocate. I don't rely just on my Dr and what they want me to do. I do a lot of research so I am well informed. I wish you the very best of luck.
At 42, my doctor is letting it up to us.
*TW INFANT LOSS*
Our son died of complications related to CHARGE syndrome when he was three weeks old. Noninvasive prenatal genetic blood test screenings like the Panorama test are great, but they don't test for everything. Our Panorama test came back good, with no markers for any of the problems they tested for. Of course, Panorama didn't screen for CHARGE.
Since you've have already had PGS testing, my advice would be to wait until the 20 week ultrasound. If any major anomalies are found then, like a heart defect, cleft palate, etc., do amniocentesis.
At our 20 week ultrasound, we discovered that our son had a very rare and incredibly serious congenital heart defect. So I temporarily moved to Boston when I was 37 weeks pregnant. Boston has the best hospital in the world for the heart surgery our son needed right after birth.
@MsMae79 We did not do amniocentesis, and I regret it. At the time, my reasoning was that we would continue the pregnancy no matter what, so amnio was a waste of time. I was wrong. If we had known that our son had CHARGE ahead of time, we would've known he needed more help than just heart surgery. We would've been better prepared to meet his needs. We would've established a relationship with the world's only CHARGE syndrome clinic, in Cincinnati, ahead of time. We would've begun researching schools for the blind and deaf. We would've learned about the breathing issues that kids with CHARGE have.
My experience taught me that if you will continue your pregnancy no matter what, it is ESPECIALLY important to do as much testing as possible, because you want to be 100% prepared to help your baby. If your baby will have rare special needs, you will want to give birth in the right place, with the right specialists on hand. You want to be prepared for everything you'll need to learn, like how to maintain a tracheostomy tube at home, and how to feed your child with a feeding tube.
If I had known then what I know now…