{ "media_type": "text", "post_content": "11 weeks pregnant w my first and just received \"healthy\" results from my nipt screening. Yay! Did any of u moms do additional testing even tho the nipt was good? For added context - downs syndrome is present in my extended family", "post_id": "61095ac1a106b40024493b49", "reply_count": 19, "vote_count": 1, "bowl_id": "5976222cab932800101a9ca4", "bowl_name": "Women in Advertising" }

11 weeks pregnant w my first and just received "healthy" results from my nipt screening. Yay! Did any of u moms do additional testing even tho the nipt was good? For added context - downs syndrome is present in my extended family

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I plan on it as well. I think we’ve come so far with science, I just think why not take advantage and have all the information (within reason obvs) on hand to be able to prepare best.

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Congratulations! In case you didn't know, there are several different types of Down syndrome and just one of them, translocation Down syndrome, can be inherited. It isn't super common - I think about 3% of people with Down syndrome have translocation Down syndrome - and not all of them have inherited it. If you are concerned, it may be worth speaking to your family and finding out what type it is, as you can be tested as a carrier.

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I was 39 with my first. We did whatever that expensive test is called that screens for all of those things. Went with our odds since everything appeared okay. Neither my husband nor I were carriers of anything that we knew - all turned out well!

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I did the Amnio just for peace of mind. Technically being 37 put me in the higher risk category, but I would reco it for anyone feeling anxious and who will appreciate extra data points.

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I plan on it

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Down Syndrome (no s).

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We did not do additional screening beyond NIPT. That felt like too much information, personally.

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Depends on your age. With my son I was 34, NIPT and whatever additional blood testing that was avail at the time was done — I know there are newer tests in that space that are non-invasive and can support NIPT. For my next, I will 100% be doing a CSV (I just lost a pregnancy at 10 weeks and had a CSV already scheduled, as I’m now 38). There are trade-offs —- my pov was the non-invasive ones have literally no down side while the invasive (amnio/csv) both carry a very small risk of miscarriage. But if you’re like 30, your odds of Down syndrome is quite low, but if you’re over 35, it’s significant higher.

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Congrats! We did the full genetic testing because I already knew I was a carrier for something. We did the Sema4 testing through the geneticist and found out we were both carriers for something that we had to keep our eye on, but it was all good. It unveiled a bit more detail, but we felt it was great to know. Good luck!

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Forgive me — my kids are in their 20s. No more amnios…?

Fantastic news for all moms-to-be, especially those of us of “advanced maternal age”

Pls can someone explain these acronyms to a European? Here they only test for Down’s syndrome at 12 weeks. I thought other tests required the taking of amniotic fluid and therefore dangerous?

@D1 usually, yes, but if you’re over 35, they often recommend going straight to amnio or cvs

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