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- W3183069162 abstract "To describe the prenatal and postnatal diagnostic workup leading to the diagnosis of 5-alpha-reductase type 2 deficiency (5AR2D) in a case of 46,XY disorder of sex development (DSD).A first-trimester noninvasive prenatal test (NIPT) on maternal blood revealed a male fetus with a low risk of aneuploidy. However, a female fetus was identified at the second-trimester scan. A repeat sample revealed similar results and ruled out the possibility of both a sample swap or a vanishing twin. At birth, phenotypically female external genitalia were evident, with testes noted in the labioscrotal area. Neonatal blood confirmed a 46,XY complement and a 46,XY DSD genetic panel revealed a 5AR2D.Our case and others described in the literature demonstrate that fetal sex discordance detected by a combination of NIPT and subsequent ultrasound examination can be associated with several biological conditions, with DSD being the most significant." @default.
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- W3183069162 date "2021-07-12" @default.
- W3183069162 modified "2023-09-26" @default.
- W3183069162 title "Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency" @default.
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- W3183069162 doi "https://doi.org/10.1080/15513815.2021.1948645" @default.
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