title: Genetic Carrier Screening in the Twenty-first Century.
abstract: Historically, carrier screening for a small number of autosomal recessive disorders has been offered to targeted populations based on ethnicity and family history. These chosen disorders are associated with severe morbidity or mortality, have a well-established carrier frequency in the targeted population, and have an acceptably high detection rate to make screening efficient. With advancing genetic technology, expanded panels rapidly are being designed and offered to the panethnic general population. This article reviews current recommendations for ethnicity-specific carrier screening for common disorders as well as the limitations and counseling complexities associated with expanded panels.
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Medicine, University of Maryland School of Medicine, 22 S Greene Street, Baltimore, MD 21201, USA.
authors.forename: Ruofan
authors.initials: R
authors.lastname: Yao
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Medicine, University of Maryland School of Medicine, 22 S Greene Street, Baltimore, MD 21201, USA. Electronic address: kgoetzinger@fpi.umaryland.edu.
authors.forename: Katherine R
authors.initials: KR
authors.lastname: Goetzinger
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D006579:Heterozygote; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D011247:Pregnancy; D013661:Tay-Sachs Disease / Q000235:genetics
keywords: Ashkenazi Jewish; Carrier screening; Cystic fibrosis; Spinal muscular atrophy; Tay-Sachs disease