Antenatal screening for aneuploidy

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There are several methods of antenatal screening for aneuploidy. Most are aimed at the identification of women at increased risk of Down syndrome, the most common abnormal karyotype conferring a significant risk of serious long-term morbidity. Traditional maternal-age-based screening has largely been replaced by programmes based on biochemical markers in maternal serum in the second trimester of pregnancy. However, in recent years there has been a considerable drive towards earlier screening such that there are now a range of potential programmes based on various combinations of maternal age, serum markers and ultrasound findings. There is currently much debate as to which are the most effective methods of screening for aneuploidy.

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