Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy

Am J Med Genet A. 2018 Mar;176(3):510-512. doi: 10.1002/ajmg.a.38643.
No abstract available

Publication types

  • Letter

MeSH terms

  • Australia / epidemiology
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics
  • Genetic Carrier Screening* / methods
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / epidemiology
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing
  • Heterozygote*
  • Humans
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics
  • Prenatal Diagnosis