Genetic Testing Choices???

Question

What are people’s thoughts on various genetic tests? We got tons of info thrown at us today and I can’t seem to figure out the best option. Doc says we should do a screening test and only if we come back as high risk should we move onto Amnio or CVS. My biggest question is what screening test is better: a NIPT (blood test only) or sequential screening (1st & 2nd trimester blood + ultrasound screen). My doctor seems to like the sequential, but is that just because NIPT is relatively new (and he’s an old school doctor)???
Lastly, if I opted for the NIPT, couldn’t I just get the NT scab done as well? I feel like that would provide all the same information as the sequential screening, but earlier results.

Answer

I agree with @Leslie. My genetic counselor said the 1st semester screening bloodwork will almost always come back high because our baseline is higher due to our age. She said to do the NIPT and a NT scan. The NIPT is more accurate because it is evaluating actual pieces of DNA. She did say that NIPT can be done as early as 9 or 10 weeks but prefers around 12w because adequate DNA is in my blood. We tested at 11w2d and had enough for a conclusive test. If indications lead to abnormalities from that, we could do a CVS up to 13w6d or wait until after 16w to do an amnio.

Answer

I had the NIPT test at 12 weeks that came back today as “no results” and I had to repeat the blood draw today. Now I wait and worry. ❤️

Answer

I just got my results back, I had blood drawn at 10 weeks on the day. Came back as very low probability of chromosomal abnormalities. This is not a guarantee, however what WONDERFUL peace of kind! Plus the added benefit of finding out the gender early 💙

Answer

We did the NIPT and it came back low/no risk for everything so we just had the NT Scan at 12 weeks. The NIPT is super easy and painless and very accurate, my OB favored it to any other blood test options too because you can do it so early on. Then if it comes back with any risk you can decide if you want to proceed with the CVS or Amnio based on what the results are and what your feelings are in wanting to further test.

Genetic Testing Choices???

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