Fetal sex discordance

Álvaro López Soto; Mar Bueno González; Isabel Urbano Reyes; Jose Luis Meseguer González; M Ángeles Jódar Pérez; Olivia García Izquierdo

doi:10.1016/j.tjog.2020.07.004

Fetal sex discordance

Taiwan J Obstet Gynecol. 2020 Sep;59(5):652-655. doi: 10.1016/j.tjog.2020.07.004.

Authors

Álvaro López Soto¹, Mar Bueno González², Isabel Urbano Reyes², Jose Luis Meseguer González², M Ángeles Jódar Pérez², Olivia García Izquierdo²

Affiliations

¹ Prenatal Diagnosis Unit, Department of Obstetrics, Hospital General Santa Lucía, Cartagena, Spain. Electronic address: alvarolopezsoto1@gmail.com.
² Prenatal Diagnosis Unit, Department of Obstetrics, Hospital General Santa Lucía, Cartagena, Spain.

PMID: 32917312
DOI: 10.1016/j.tjog.2020.07.004

Abstract

Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500-2000 pregnancies, a frequency as high as that of some common chromosomopathies. The causes of this phenomenon are multiple and diverse, ranging from laboratory errors to important pathologies such as disorders of sexual differentiation. The management of a case of fetal sex discordance must be structured, starting with the review of the clinical history and the tests performed, and may require the performance of invasive tests to reach a diagnosis. Prevention through adequate pretest counseling and ultrasound confirmation can help to reduce its incidence.

Keywords: Fetal sex; Fetal sex discordance; NIPT; Prenatal testing; cfDNA.

Publication types

Review

MeSH terms

Cell-Free Nucleic Acids / standards
Disorders of Sex Development / diagnosis
Female
Humans
Maternal Serum Screening Tests / standards*
Pregnancy
Sex Characteristics*
Sex Determination Analysis / standards*
Ultrasonography, Prenatal

Substances

Cell-Free Nucleic Acids