Prenatal diagnosis of a 46, XX male following noninvasive prenatal testing

Abstract

Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF ‐ PCR , CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT .