Prenatal diagnosis

Our first question: When did we find out that Leah had Down Syndrome?

Answer: We knew for certain at 23 weeks. Our second trimester state screen came out risk positive, and we opted for Non-Invasive Prenatal Testing (NIPT) instead of an amnio for confirmation. We actually had to do the 7-10 day wait twice, because the first company that ran our test wasn’t certified for our situation (reciprocal IVF). We had to do the process all over again with a new company. The test was returned with a 99.9% risk of Down Syndrome, and the other 0.1% was confirmed when the doctors repeatedly failed to locate Leah’s stomach on ultrasounds, indicating a blockage in the digestive tract, which is more common among kids with Down Syndrome.

As soon as we had confirmation of Leah’s T21 diagnosis, we went out and did a series of 4D ultrasounds, one immediately and one a month or two later. I believe this set of images came from the second set of ultrasounds, and it confirmed that Leah would be a little bug with a big personality.

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