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

Luigia De Falco; Giovanni Savarese; Teresa Suero; Sonia Amabile; Raffaella Ruggiero; Pasquale Savarese; Antonio Fico

doi:10.1002/ccr3.2389

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

Clin Case Rep. 2019 Sep 7;7(10):1977-1981. doi: 10.1002/ccr3.2389. eCollection 2019 Oct.

Authors

Luigia De Falco¹, Giovanni Savarese¹, Teresa Suero¹, Sonia Amabile², Raffaella Ruggiero¹, Pasquale Savarese¹, Antonio Fico¹

Affiliations

¹ AMES, Centro Polidiagnostico Strumentale Srl Naples Italy.
² Department of Molecular Medicine and Medical Biotechnology University of Naples "Federico II" Naples Italy.

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.

Keywords: aneuploidies; circulating cell‐free fetal DNA; non‐invasive prenatal testing; sex discordance.

Publication types

Case Reports