Obstetrics and Gynecology · 2015 · 368 citations · 15 references
MedicineGynecologyObstetricsGenetic CounselingMaternal-fetal MedicineReproductive MedicinePregnancyPregnancy DiagnosisPrenatal CarePrenatal Genetic CounselingPrenatal Genetic DiagnosisCarrier ScreeningCarrier Screening In PregnancyClinical Practice Guidelines ImplementationGenetic Carrier ScreeningMedical Genetics And Genomics GuidelinesPerinatal Quality ImprovementPrenatal Genetic Screening
The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.
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Carrier screening for spinal muscular atrophy
Genetics in Medicine · 2008 · 231 citations · Full text
Prevalence of C282Y and H63D Mutations in the Hemochromatosis (<i>HFE</i>) Gene in the United States
Karen Steinberg, Mary E. Cogswell, Joy Chang et al. · JAMA · 2001 · 229 citations · Full text