Imaging in fetal genital anomalies

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

“…Labioscrotal fusion and genital tubercle length, which evaluate the general morphometry of the external genitalia, can be assessed qualitatively (e.g. visualizing the penis as an echogenic tubular structure with a pointed tip, the scrotum as a semicircular structure at the base of the penis and the labia and clitoris as two to four parallel echogenic lines delineating three to five protuberances) 4 . Additionally, a quantitative assessment can be performed, measuring parameters such as penis length/width, scrotum diameter/circumference and bilateral diameter using appropriate reference data 14,21,22 .…”

“…Fetal sex determination is even performed in the early stages of embryo differentiation 17 . Additionally, there are reports of various pathologies, such as micropenis, hypospadias, hydro(metro)colpos and cases of ambiguous genitalia 4,18 .…”

“…The incidence will also depend on the terms and criteria used. The classic data suggest a prevalence of 1:5000, although this number has been reported to range from 1:20 000 to 1:200–300, and even up to 2% 4 . A recent study reported incidences of 1:881, 1:3318 and 1:11 097, respectively, based on whether further investigation in the neonatal period, specialist assessment or delayed sex assignment was required 5 .…”