21Feb 2023
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

This article provides an update for prenatal providers on sex chromosome aneuploidy (SCA) and summarizes data from neurodevelopmental, epidemiologic, and registry studies on the most common SCA. SCA can be detected through prenatal diagnostic testing and cell-free DNA screening (cfDNA), but high-risk cfDNA results should be confirmed with diagnostic testing. In addition, the article emphasizes that counseling after prenatal diagnosis of SCA should be based on interdisciplinary consultation and that incidence estimates may be affected by ascertainment bias.

  • #gynaecology - ivf

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