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

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 prenat...

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Detalles Bibliográficos
Autores principales: De Falco, Luigia, Savarese, Giovanni, Suero, Teresa, Amabile, Sonia, Ruggiero, Raffaella, Savarese, Pasquale, Fico, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787777/
https://www.ncbi.nlm.nih.gov/pubmed/31624621
http://dx.doi.org/10.1002/ccr3.2389