Updates in Genetic Screening for the General Obstetrician

Taylor M Dunn; Akila Subramaniam

doi:10.1016/j.ogc.2023.03.005

Updates in Genetic Screening for the General Obstetrician

Obstet Gynecol Clin North Am. 2023 Sep;50(3):493-507. doi: 10.1016/j.ogc.2023.03.005. Epub 2023 May 8.

Authors

Taylor M Dunn¹, Akila Subramaniam²

Affiliations

¹ Department of Genetics, University of Alabama at Birmingham, 1720 2nd Avenue South, VH1L108B, Birmingham, AL 35294-0019, USA. Electronic address: taylordunn@uabmc.edu.
² Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, 1700 6th Avenue South, Women and Infants Center, 10270, Birmingham, AL 35249, USA.

PMID: 37500212
DOI: 10.1016/j.ogc.2023.03.005

Abstract

The number of prenatal genetic screening options, including aneuploidy screening and carrier screening, has drastically increased with rapid advancements in DNA sequencing technologies. Noninvasive prenatal screening analyzing cell-free DNA has quickly been integrated into routine prenatal care as it is the most sensitive and specific screening method for pregnancies at increased and average risk of fetal aneuploidy. The aim of this article is to outline current recommendations for cell-free DNA screening and carrier screening, important aspects of pretest and posttest counseling for obstetric providers, and which patients should be referred to a genetic specialist.

Keywords: Cell-free DNA; Expanded carrier screening; Noninvasive prenatal screening; Prenatal genetic screening.

Publication types

Review

MeSH terms

Aneuploidy
Cell-Free Nucleic Acids*
Female
Genetic Counseling
Genetic Testing
Humans
Obstetricians*
Pregnancy
Prenatal Diagnosis / methods

Substances

Cell-Free Nucleic Acids