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

CLINICAL CASE REPORTS（2019）

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摘要

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.

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关键词

aneuploidies, circulating cell-free fetal DNA, non-invasive prenatal testing, sex discordance

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