Hereditary carrier

ACMG Provides Roadmap for Screening Couples Before or During Pregnancy: New ACMG Clinical Practice Resource for Autosomal Recessive and X-linked Conditions

Retrieved on: 
Tuesday, July 20, 2021
Branches of biology, Genetics, Medical genetics, American College of Medical Genetics and Genomics, Genetic disorder, ACMG, Sex linkage, Hereditary carrier, Medical genetics of Jews, Genetic testing

The paper, " 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) ," was published in ACMG's official journal, Genetics in Medicine.

Key Points: 
  • The paper, " 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) ," was published in ACMG's official journal, Genetics in Medicine.
  • Carrier screening is used to identify individuals or couples who are at-risk to have a child with an autosomal recessive or X-linked genetic disorder.
  • In 2015, the ACMG, along with other professional organizations, published a "Points to Consider" joint statement focused on expanded carrier screening.
  • Genetic conditions qualified for inclusion in the Tier 3 carrier screening are listed in the Clinical Practice Resource document.