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

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 identifi...

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Bibliographic Details
Main Authors: Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Clinical Case Reports
Subjects:
aneuploidies
circulating cell‐free fetal DNA
non‐invasive prenatal testing
sex discordance
Online Access:https://doi.org/10.1002/ccr3.2389

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