Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: Outcomes of 12,000 tests

Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B. Delatycki, Eppie Mildred Yiu, R. John Massie, Mark Domenic Pertile, Desirée Du SartDamien Bruno, David J. Amor

Research output: Contribution to journalArticleResearchpeer-review

52 Citations (Scopus)


PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history. At least 94% of CF and SMA carriers' partners were tested. Fifty couples (0.42%; 1 in 240) were at increased risk of having a child with one of the conditions (14 CF, 35 FXS, and 1 SMA) with 32 pregnant at the time of testing. Of these, 26 opted for prenatal diagnosis revealing 7 pregnancies affected (4 CF, 2 FXS, 1 SMA).ConclusionThe combined affected pregnancy rate is comparable to the population risk for Down syndrome, emphasizing the need to routinely offer carrier screening. The availability of appropriate genetic counseling support and a collaborative approach between laboratory teams, genetics services, health professionals offering screening, and support organizations is essential.

Original languageEnglish
Pages (from-to)513-523
Number of pages11
JournalGenetics in Medicine
Issue number5
Publication statusPublished - 2018
Externally publishedYes


  • carrier screening
  • cystic fibrosis
  • fragile X syndrome
  • prenatal diagnosis
  • spinal muscular atrophy

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