What Prenatal Screening Actually Tells You (and What It Doesn’t)

Last week, I wrote about what I wish I’d asked my doctor during my first pregnancy. By my second pregnancy (with my third baby), I finally asked them.

With the twins, I had no PGT-tested embryos, two babies on the way, and a notebook full of questions about weight gain. Genetic screening never came up, mostly because I didn’t know to bring it up.

The second time around, I asked for both chromosomal screening and carrier screening. I was still anxious, because I’m me, but it was a different kind of anxious. I knew what I was working with and what I carried, and I could plan around that instead of just bracing for whatever came next.

What I wish had existed then: FirstGene®, a new multiple prenatal screen from Myriad® Genetics that does all of it in one blood draw, as early as eight weeks. Chromosomal conditions. Carrier screening. Fetal recessive disease risk. RhD compatibility. One sample, one report — and no paternal testing required, which matters more than it sounds, because only about 41% of male partners actually follow through on carrier screening when asked separately.

Prenatal screening doesn’t tell you everything will be okay. What it gives you is information early enough to actually do something with it: to ask better questions, to take specific diagnostic tests, to prepare, to not be blindsided by something that could have been caught sooner.

I would have wanted that the first time, but I’m glad something like it exists now.