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

Autor: Reimers R; Division of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., High F; Harvard Medical School, Boston, Massachusetts, USA.; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Kremen J; Harvard Medical School, Boston, Massachusetts, USA.; Maternal-Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., Wilkins-Haug L; Division of Maternal Fetal Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Maternal-Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2023 Feb; Vol. 43 (2), pp. 250-260. Date of Electronic Publication: 2022 Nov 09.
DOI: 10.1002/pd.6256
Abstrakt: 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.
(© 2022 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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