Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

被引：1

作者：

Guha, Saurav ^{[1
]}

Reddi, Honey, V ^{[2
,13
]}

Aarabi, Mahmoud ^{[3
,4
,5
,6
,7
]}

DiStefano, Marina ^{[8
]}

Wakeling, Erin ^{[9
]}

Dungan, Jeffrey S. ^{[10
]}

Gregg, Anthony R. ^{[11
]}

机构：

[1] New York Genome Ctr, New York, NY 10013 USA

[2] Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI USA

[3] UPMC Magee Womens Hosp, UPMC Med Genet & Genom Labs, Pittsburgh, PA USA

[4] Univ Pittsburgh, Sch Med, Dept Pathol, Pittsburgh, PA USA

[5] Univ Pittsburgh, Sch Med, Dept Obstet, Pittsburgh, PA USA

[6] Univ Pittsburgh, Sch Med, Dept Gynecol, Pittsburgh, PA USA

[7] Univ Pittsburgh, Sch Med, Dept Reprod Sci, Pittsburgh, PA USA

[8] Broad Inst MIT & Harvard, Cambridge, MA USA

[9] GeneDx Inc, Gaithersburg, MD USA

[10] Northwestern Univ, Feinberg Sch Med, Dept Obstet & Gynecol, Chicago, IL USA

[11] Prisma Hlth, Dept Obstet & Gynecol, Columbia, SC USA

[12] Amer Coll Med Genet & Genom, Bethesda, MD USA

[13] Belay Diagnost, Chicago, IL 60607 USA

来源：

GENETICS IN MEDICINE | 2024年 / 26卷 / 07期

关键词：

Carrier screening; Gene panels; Next-generation sequencing; Preconception screening; Prenatal testing; GUIDELINES; RECOMMENDATION; ASSOCIATION; VARIANTS;

D O I：

10.1016/j.gim.2024.101137

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Carrier screening has historically assessed a relatively small number of autosomal recessive and X-linked conditions selected based on frequency in a specific subpopulation and association with severe morbidity or mortality. Advances in genomic technologies enable simultaneous screening of individuals for several conditions. The American College of Medical Genetics and Genomics recently published a clinical practice resource that presents a framework when offering screening for autosomal recessive and X-linked conditions during pregnancy and preconception and recommends a tier-based approach when considering the number of conditions to screen for and their frequency within the US population in general. This laboratory technical standard aims to complement the practice resource and to put forth considerations for clinical laboratories and clinicians who offer preconception/prenatal carrier screening. (c) 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

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页数：18

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