In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non...

OBJECTIVE To evaluate the performance and cost efficacy of different first-trimester contingent screening strategies based on an initial analysis of biochemical markers. DESIGN Retrospective study. SETTING Swedish National Quality Register for prenatal diagnosis. POPULATION 35,780 women with singleton pregnancies. METHODS Serum values from first trimester biochemistry were re-analyzed i...