Ladies what are some of the major genetic issues that Amniocentesis can detect but CCS (genetic testing of embryo during IVF) + NIPT + NT cannot detect? I got normal results from the combo, but still worried that I might have missed sth. Thanks!

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Amniocentesis can test for chromosome abnormalities (extra or deletion of whole chromosomes), spina bifida, and microarray of microdeletions within the chromosomes. The NIPT can only screen but not diagnose and it’s not highly accurate even if it comes back positive because the conditions are rare. The genetic counselor said that 1.7% of all amniocentesis results come back with a pathogenic finding (for example, digeorge syndrome), and another 1% come back with a finding but there is not enough research to know what the effects are. Taking these probabilities into account, even with a normal NIPT and NT, we did an amnio. We weighed the probability of miscarriage (1/700 at our hospital) against the probability of finding a pathogenic finding that we would terminate for. Note that these microdeletions are “de novo” - unique to the developing embryo and not based on genetics or mother’s age, so they can happen to anyone.

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EY has a good summary there. I chose to do PGT testing, NIPT, NT screen, and my Dr and I passed on the amnio and CVS testing. It’s a decision I wonder about but M1 is right there are risks. She was confident that by now the others would have found something and we should proceed. Anatomy scan is next. We should see more there.

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I’m not sure CCS but NIP tests are pretty narrow in scope in the grand scheme. Our daughter was diagnosed with DiGeorge after an abnormal anatomy scan and an amnio and even though it’s one of the most common genetic disorders - NIPTs don’t test for it. They generally don’t recommend an amnio unless you have an abnormal anatomy scan though. It is not a fun procedure. Huge needle right into the belly, no numbing at all.

“Some companies offering NIPT also test for certain microdeletions, which are conditions caused by chromosomes that are missing a section. NIPT is less accurate in screening for microdeletions than in screening for trisomy. Tests for microdeletions have a high rate of false positives.”

That test comes with its own risks so in my opinion it’s not worth doing if everything else looks normal and you don’t have any specific genetic issues to watch out for. We didn’t do PGT-A and NIPT was clear, so skipped everything else.

Had a normal NIPT only to have a MMC later due to triploidy/partial molar. Because it's a full complete extra set of chromosomes it doesn't look abnormal on NIPT (or isnt always detected).... so I was told.

That said you can test for everything under the sun - but there will always be further advancements. Sometimes I think it's better to just do whatever testing is recommended and then leave it be. Don't second guess results. If bad news is going to happen then it will happen sometimes even if testing doesn't catch it.

lol. You didn’t actually read any of it. It’s a summary of 16 studies comparing CVS and amnio with no agenda. On a scientific govt site. Either way, my point isn’t to compare them but to point out the number of false positives that were found in amnio results.

You can disagree with the data in peer-reviewed studies if you prefer. I don’t really care. It doesn’t make it untrue. Meanwhile you provided no evidence to support your claim. Any scientist will tell you that there’s no test that’s 100% accurate.

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