Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?
Rebecca Reimers, Frances High, Jessica Kremen, Louise Wilkins‐Haug
Abstract
Sex chromosome aneuploidy (SCA) can be detected on prenatal diagnostic testing and cell free DNA screening (cfDNA). High risk cfDNA results should be confirmed with diagnostic testing. This summary article serves as an update for prenatal providers and assimilates data from neurodevelopmental, epidemiologic, and registry studies on the most common SCA. This information can be helpful for counseling after prenatal diagnosis of sex chromosome aneuploidy. Incidence estimates may be influenced by ascertainment bias and this article is not a substitute for interdisciplinary consultation and counseling.
Topics & Concepts
AneuploidyCell-free fetal DNAPrenatal diagnosisIncidence (geometry)MedicineGenetic counselingObstetricsChromosomePrenatal screeningGeneticsPregnancyBiologyFetusGeneOpticsPhysicsPrenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCongenital Anomalies and Fetal Surgery