Fetal sex discordance

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 discordance
• cfDNA
• NIPT
• Prenatal testing
• Fetal sex