title: Screening for Down syndrome in the second trimester of pregnancy.
abstract: Antenatal screening for fetal anomalies has provided women and their partners with information to make reproductive choices based on the risk of serious chromosomal or structural defects since the 1990s. Alternative tests include first-trimester screening (combined ultrasound and maternal serum markers), second-trimester maternal serum markers and noninvasive cell-free DNA testing. The recent recommendations by the Royal Australian and New Zealand College of Obstetrics and Gynaecology and the Human Genetics Society of Australasia against second-trimester triple testing are based on unsound performance criteria, raise several contestable issues around access and equity and challenge the principles of governments providing affordable options.
authors.affiliation: Health Sciences Research and Graduate Studies, Curtin University, Bentley, Western Australia, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: O'Leary
authors.affiliation: Health Sciences Research and Graduate Studies, Curtin University, Bentley, Western Australia, Australia.
authors.forename: Susannah
authors.initials: S
authors.lastname: Maxwell
authors.affiliation: Prenatal Testing, Douglass Hanly Moir Pathology, Sonic Healthcare, Macquarie Park, New South Wales, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Sinosich
authors.affiliation: Endocrinology, QML Pathology, Mansfield, Queensland, Australia.
authors.forename: Kerry
authors.initials: K
authors.lastname: DeVoss
authors.affiliation: Genetics & Molecular Pathology, South Australia Pathology, Adelaide, South Australia, Australia.
authors.forename: Janice
authors.initials: J
authors.lastname: Fletcher
authors.affiliation: SA Neonatal Screening Centre, Genetics and Molecular Pathology, South Australia Pathology, Adelaide, South Australia, Australia.
authors.forename: Enzo
authors.initials: E
authors.lastname: Ranieri
authors.affiliation: South Australia Pathology, Adelaide, South Australia, Australia.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Metz
mesh_terms: D001315:Australia; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D009520:New Zealand; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards
keywords: Down syndrome; antenatal screening; triple test