Ethnicity-Based Carrier Screening

Jennifer R King; Susan Klugman

doi:10.1016/j.ogc.2017.10.010

Ethnicity-Based Carrier Screening

Obstet Gynecol Clin North Am. 2018 Mar;45(1):83-101. doi: 10.1016/j.ogc.2017.10.010.

Authors

Jennifer R King¹, Susan Klugman²

Affiliations

¹ Department of Obstetrics & Gynecology and Women's Health, Division of Reproductive and Medical Genetics, Albert Einstein College of Medicine, Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, NY 10461, USA.
² Department of Obstetrics & Gynecology and Women's Health, Division of Reproductive and Medical Genetics, Albert Einstein College of Medicine, Montefiore Medical Center, 1695 Eastchester Road, Suite 301, Bronx, NY 10461, USA. Electronic address: sklugman@montefiore.org.

PMID: 29428288
DOI: 10.1016/j.ogc.2017.10.010

Abstract

Ethnicity-based carrier screening for single-gene disorders is an integral part of preconception and prenatal care. The role of ethnicity-based carrier screening has expanded over time with advancing technology. Patients and providers should understand the benefits and limitations of their screening options and engage in appropriate pretest and posttest counseling. The future management of single-gene disorders is changing and a time may be approaching when ethnicity-based carrier screening will be replaced with expanded carrier screening.

Keywords: Autosomal recessive; Carrier screening; Ethnicity; Preconception.

Publication types

Review

MeSH terms

Ethnicity / genetics*
Female
Genetic Carrier Screening / methods*
Genetic Counseling / methods*
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics
Heterozygote*
Humans
Preconception Care
Pregnancy
Prenatal Care