from Medical topics
Published online by Cambridge University Press: 18 December 2014
Antenatal screening is an important part of antenatal care as practised across the world (see ‘Antenatal care’). Pregnant women and their partners are routinely offered a range of screening tests to identify those who are at increased risk of a fetal anomaly including chromosomal abnormalities, structural abnormalities or haemoglobin disorders. Recently there has been a policy shift regarding the aim of antenatal screening, from reducing the incidence of conditions to facilitating informed choices for those offered screening (National Screening Committee, 2000) (see also ‘Screening: general issues’). This chapter describes the choices available for pregnant women and considers the extent to which informed choice is realized.
Screening choices
Women are offered screening tests which differ according to the condition screened for, the time in pregnancy, the detection rates and the safety of associated diagnostic tests. This section describes the choices available to women about antenatal screening.
Screening for chromosomal abnormalities
Down's syndrome (Trisomy 21) is the most common chromosomal abnormality screened for and affects about 1 in 700 live births in the UK. A variety of screening tests using different markers have been introduced during the last twenty years. These include ultrasound measurement of nuchal translucency and measurements in maternal serum of alpha-fetoprotein, pregnancy associated plasma protein, human chorionic gonadotrophin, oestriol or inhibin. Screening tests use different combinations of markers, with the name reflecting characteristics of the test such as the number of markers assessed (Double or Triple), the type of marker assessed (nuchal translucency), where it was developed (Bart's or Leeds) or the way the risk assessment was performed (Integrated).
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