Follow up and evaluation of the Victorian first-trimester combined screening programme for Down syndrome and trisomy 18

Abstract

Objective: The objective of this study was to follow up and evaluate the statewide first-trimester combined screening programme for Down syndrome and trisomy 18 at Genetic Health Services Victoria, Australia. Design: Retrospective population cohort. Setting: Maternal Serum Screening Laboratory records. Sample: All women screened between February 2000 and June 2002 (16 153 pregnancies). Methods: Screening results were matched to Victorian perinatal and birth defect data via record linkage, with an ascertainment of 96.8% of pregnancy outcomes. Manual follow up with health professionals increased ascertainment to more than 99%. Main outcome measures: Fetal Down syndrome or trisomy 18, and combi..