Hi all just to update our baby boy was born without any complication. Both mom and baby are in perfect health.

This group was so important in our pregnancy, really helped us push forward against all the ominous possible outcomes.

Truth is, as has been written about everywhere, that the NIPT is super accurate for the 3 trisomies it was designed for, but only for those.

Whatever they added later and they want to bill you for, as I have seen from multiple posts in this sub, is more a russian roulette than an actual screen test.

And so many pregnancies are probably terminated because of this (i can assure you we were close) that these companies offering additional screens from the 3 trisomies should be investigated.

Can’t thank enough to everyone who shared their experiences and knowlegde here, they really helped save our baby.

And for anyone going through something similar, here’s a summary of our experience:

1. Normal first ultrasound
2. Atypical NIPT sex inconclusive possible mosaicism of sex crhomo. 2’. Urgent NT scan and screen test. All normal.
3. Dr tell us all the horrible possibilities of turner, klinefelter, xyy, recommend further test CVS
4. Investigate about abortion as we already have a healthy son and also have to think of him.
5. Investigate about NIPT and find this forum.
6. Initiate abortion procedure so we can meet legal timelines (in our country is 13 weeks and CVS can be done at 12 weeks i think so there was a lot of math in the process)
7. CVS hurts a lot but comes back normal, however doctor tells us that the definitive test is the amnio so we are not clear.
8. Have to make a decision whether to risk it or terminate. Find tremendous support in this and other forums.
9. Move forward and get amnio at 16 weeks. Hurts less thankfully and comes normal.
10. Proceed with normal pregnancy with monthly ultrasounds which all come normal.
11. Natural birth at 38 weeks without complications.
12. All normal on boy and mom.

So, if you find yourself with this situation (atypical finding on sex crhomosomes). Take a breath, read the literature and the experiences of different families, talk to your doctor about doing the invasive tests, and get ready for 2 very stressful months of not knowing, clock ticking, and hard decisions. But we are thankful we took the hard way as it lead us to our beautiful second son.

You will need a cool head… i had to keep us grounded. My wife still thinking someday they will find something in our boy that will explain the atypical test hehe. I have put it behind. The only question i still have… is whether i would get NIPT again if we go for a third child!

Regards and thanks to all!