Abstract
Genital anomalies are a heterogeneous group of congenital pathologies that have become
increasingly relevant since the Chicago Consensus of 2005. Their postnatal diagnosis
has developed significantly in the last two decades, while prenatal diagnosis seems
to be underdeveloped, with few protocols available, fragmented scientific literature,
and low diagnostic rates. This review aims to examine the current status of this subspecialty
from the perspective of prenatal imaging. Indications for the evaluation of fetal
genitalia can be divided into medical and non-medical reasons. Medical reasons include
sex-linked disorders, detection of other anomalies, relevant family history, or multiple
pregnancy. Non-medical reasons include parental request for sex disclosure. Disclosure
of fetal sex may be associated with ethical, legal, and medical issues. The main imaging
technology used is 2D ultrasound, although there are other complementary techniques
such as 3D, MRI, or Color Doppler. Regarding working methodology, several authors
have drawn attention to the lack of standardized protocols and guidelines. Most guidelines
tend to limit their recommendations to study indications and ethical issues. Technical
proposals, measurements, or working methods have not yet been standardized. Fetal
sex determination is usually divided into early and late gestation. Early gestation
is based on the sagittal sign. Late gestation is based on direct visualization. There
are several measurements to describe male and female genitalia, such as penile length,
bilabial diameter, or scrotal diameter. Prenatal diagnosis of genital pathologies
presents some particularities such as the wide spectrum of phenotypes, the high frequency
of associated deformities, or the time of diagnosis. Some of the most frequent pathologies
are ambiguous genitalia, fetal sex discordance, hypospadias, micropenis, clitoromegaly,
ovarian cysts, hydro(metro)colpos, and cloacal anomalies. Higher-quality studies and
direction from scientific societies through the implementation of clinical guidelines
are needed.
Keywords
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Article info
Publication history
Published online: February 02, 2023
Accepted:
January 30,
2023
Received in revised form:
January 15,
2023
Received:
October 25,
2022
Identification
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