Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing.

ABSTRACT: We report a new case of 46,XX male syndrome that was detected following an anomalous result by non-invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.

SUBMITTER: De Falco L 

PROVIDER: S-EPMC6787777 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature