Prenatal diagnosis of 46, XX male fetus

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

“…Although maternal and fetal biological features could affect fetal sex aneuploidy detection, disorders of sexual differentiation (DSD) may also produce a discordance between the NIPT sex genotype and ultrasonographic detection or fetal karyotype. DSD is found in approximately 1/2500 pregnancies . 46,XX male syndrome, which was first described in 1964 by de la Chapelle, has a prevalence of 1:20 000 in newborn males, with different clinical phenotypes, such as normal or ambiguous male external genitalia, infertility, or hypogonadism, presenting at birth or later during puberty .…”

“…DSD is found in approximately 1/2500 pregnancies. 6 46,XX male syndrome, which was first described in 1964 by de la Chapelle, has a prevalence of 1:20 000 in newborn males, 7 with different clinical phenotypes, such as normal or ambiguous male external genitalia, infertility, or hypogonadism, presenting at birth or later during puberty. 8 Approximately 90% of cases show the presence of the sex-determining region Y (SRY) and are usually diagnosed after puberty when they develop hypogonadism, gynecomastia, and/or infertility.…”

Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing

“…Sex discordance between prenatal cytogenetic results and ultrasound findings is not common, but gender discordance is observed in approximately 1/2500 pregnancies 1 . Now with the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal DNA information.…”