What does an atypical NIPT test result mean?

Question

Hello doctor,

I am 18 weeks pregnant and recently received three inconclusive NIPT tests. The last test was deemed "atypical." I also had two high-resolution ultrasounds and no abnormal findings. My primary obstetrician is doubtful about the "atypical" result and recommends an amniocentesis. I am looking for another opinion. I am taking Aspirine, and Sertraline currently.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I reviewed your history and report (attachment removed to protect the patient's identity) and understood your concerns. However, the report shows atypical results, meaning they found something abnormal they did not expect, a single nucleotide polymorphism in chromosome 21 (which is responsible for Down syndrome). That is why your doctor told you to go for amniocentesis (though it is an invasive procedure, it is a confirmatory test to rule out chromosomal abnormalities).

Hope this helps.

Thank you.

Answer 2

Hello,

Welcome back to icliniq.com.

You should not be anxious about your report because it is only a screening test, not a confirmatory test. The document did not mention single nucleotide polymorphism; it means the atypical finding you received from the NIPT (noninvasive prenatal testing) test. NIPT is only a screening test, so we have to go for amniocentesis for confirmation (to rule out chromosomal 21 abnormalities).

Hope this helps.

Thank you.