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Addendum: Preconception and prenatal testing of biologic fathers for carrier status; Carrier screening in individuals of Ashkenazi Jewish descent; Carrier screening for spinal muscular atrophy

      These documents were retired by the ACMG Board of Directors as of July 14, 2022 with the following addendum.
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      Reference

        • Gregg A.R.
        • Aarabi M.
        • Klugman S.
        • et al.
        Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
        Genet Med. 2021; 23: 1793-1806https://doi.org/10.1038/s41436-021-01203-z

      Linked Article

      • Preconception and prenatal testing of biologic fathers for carrier status
        Genetics in MedicineVol. 8Issue 2
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          Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
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      • Carrier screening in individuals of Ashkenazi Jewish descent
        Genetics in MedicineVol. 10Issue 1
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          This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
        • Full-Text
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        Open Archive
      • Carrier screening for spinal muscular atrophy
        Genetics in MedicineVol. 10Issue 11
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          The autosomal recessive disorder proximal spinal muscular atrophy (SMA, MIM #253300) is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an estimated prevalence of 1 in 10,000 live births and a carrier frequency of 1/40–1/60. Childhood SMA is subdivided into three clinical groups on the basis of age of onset and clinical course: type I SMA (Werdnig-Hoffmann) is characterized by severe, generalized muscle weakness and hypotonia at birth or within the first 3 months.
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