Ethnicity-Based Carrier Screening

被引：20

作者：

King, Jennifer R. ^{[1
]}

Klugman, Susan ^{[1
]}

机构：

[1] Albert Einstein Coll Med, Montefiore Med Ctr, Dept Obstet & Gynecol & Womens Hlth, Div Reprod & Med Genet, 1695 East Chester Rd,Suite 301, Bronx, NY 10461 USA

来源：

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA | 2018年 / 45卷 / 01期

关键词：

Ethnicity; Carrier screening; Autosomal recessive; Preconception; SPINAL MUSCULAR-ATROPHY; SICKLE-CELL-ANEMIA; FRAGILE-X-SYNDROME; TAY-SACHS; PRENATAL-DIAGNOSIS; GENETIC-DISEASES; UNITED-STATES; JEWISH; POPULATION; ALLELES;

D O I：

10.1016/j.ogc.2017.10.010

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：83 / +

页数：20

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