TY - JOUR
T1 - Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia
T2 - Outcomes of 12,000 tests
AU - Archibald, Alison Dalton
AU - Smith, Melanie Jane
AU - Burgess, Trent
AU - Scarff, Katrina Louise
AU - Elliott, Justine
AU - Hunt, Clare Elizabeth
AU - Barns-Jenkins, Caitlin
AU - Holt, Chelsea
AU - Sandoval, Karina
AU - Kumar, Vanessa Siva
AU - Ward, Lisa
AU - Allen, Emily Caroline
AU - Collis, Sarah Valerie
AU - Cowie, Shannon
AU - Francis, David
AU - Delatycki, Martin B.
AU - Yiu, Eppie Mildred
AU - John Massie, R.
AU - Pertile, Mark Domenic
AU - Du Sart, Desirée
AU - Bruno, Damien
AU - Amor, David J.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - carrier screening
KW - cystic fibrosis
KW - fragile X syndrome
KW - prenatal diagnosis
KW - spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=85045888858&partnerID=8YFLogxK
U2 - 10.1038/gim.2017.134
DO - 10.1038/gim.2017.134
M3 - Article
AN - SCOPUS:85045888858
SN - 1098-3600
VL - 20
SP - 513
EP - 523
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
ER -