Discordant non-invasive prenatal test, train of thought when having positive ultrasound markers Discordant NIPT, train of thought

Abstract

Here we present a clinical scenario and the approach taken by the laboratory and medical staff in a private Reproductive Genetics laboratory in Mexico City.

We received a maternal blood sample for non-invasive prenatal testing that resulted in high risk for trisomy 18. Confirmatory amniocentesis was performed and amniotic fluid qfPCR showed an euploid fetus. In this case report we discuss our approach to provide accurate genetic testing for the couple.