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- W2977648210 abstract "This study followed up several cases in which prenatal ultrasound and cfDNA were discordant for fetal gender. Counselling in this setting is challenging and there are very few published cases. We reviewed all cfDNA-ultrasound gender discordant cases in a series of patients referred in a five-year period. Indications for the test, cFDNA results, ultrasound findings, karyotype, SNP-microarray results, prenatal SRY/DYS PCR in maternal blood and postnatal phenotype findings were reviewed. Six discordances were identified in a cohort of 4776 women. In one case cfDNA was consistent with an XX genotype but ultrasound showed male genitalia. Amniocentesis confirmed a 46, XX karyotype but molecular analysis showed an unbalanced translocation resulting in gain of genetic material from Yp11.31, including SRY. In five cases cfDNA was consistent with an XY genotype but ultrasound showed apparent female genitalia. Two cases ended up having severe hypospadias, which were suspected in later scans and in one case gender was found to be concordant with cfDNA in follow-up scans. One case was found to have a 45X karyotype, which is likely to originate from a post-zygotic mutation. In one case NCV_Y was lower than average and the XY cfDNA result is likely to be due to placental mosaicism. Discordances between cfDNA and prenatal ultrasound gender usually raise concern on the possibility of analytical or pre-analytical errors but are commonly explained by biological phenomena. Post-zygotic mutations, placental mosaicism, severe hypospadias and rare disorders of sexual differentiation seem to be the main causes. OC02.06: Table 1." @default.
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- W2977648210 date "2019-09-30" @default.
- W2977648210 modified "2023-10-18" @default.
- W2977648210 title "OC02.06: Prenatal fetal gender discordance following cfDNA testing" @default.
- W2977648210 doi "https://doi.org/10.1002/uog.20434" @default.
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