Expanded carrier screening: A review of early implementation and literature

Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur...

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Veröffentlicht in:	Seminars in perinatology 2016-02, Vol.40 (1), p.29-34
Hauptverfasser:	Lazarin, Gabriel A., MS, Haque, Imran S., PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	carrier screening Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Ethnic Groups - genetics expanded carrier screening Genes, Recessive - genetics Genetic Carrier Screening - methods Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods genetics Humans Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Neonatal and Perinatal Medicine Practice Guidelines as Topic preconception Preconception Care - methods prenatal recessive disease
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