Counting‐based cell‐free DNA screening test fails to identify triploidy—A case report

Abstract

Key Clinical MessageAlthough noninvasive prenatal testing (NIPT) is a good test with high sensitivity and specificity for trisomy 21, 18, and 13, it remains a screening test and cannot be used for diagnostic purposes. It is important to consider the outcomes of this test and interpret the results and offer consultation accordingly.