Down syndrome (DS) is the most common genetic cause of intellectual disability. Evidence suggests that live-birth prevalence of DS is high in South Africa: 1.33 -1.8 per 1 000 live births in two urban areas, 1,2 and 2.1 per 1 000 in a rural area. 3 Prenatal screening for DS was established in the 1970s using advanced maternal age (AMA) as a risk factor, and this remains the standard of care in the public health sector of South Africa. National policy provides for free amniocentesis to be offered to AMA women, whereas biochemical screening is not offered and access to fetal ultrasound is limited.Cape Town's public health services are among the best developed in South Africa. Although access to fetal ultrasound has increased in recent years, AMA remains a frequent indication for prenatal genetic counselling. The study focused on the Cape Town Metropole West health district (CT West) to obtain evidence regarding the effectiveness of age-based screening for the prevention of DS, and preliminary evidence regarding factors affecting utilisation of prenatal diagnosis. We assessed (i) laboratory trends in prenatal diagnostic testing over a 30-year period, (ii) trends in uptake of prenatal diagnostic testing among women receiving genetic counselling and (iii) the referral pathway from primary care to tertiary care.
MethodsStudy population. Women attending state antenatal health care services in CT West, which comprises a large and diverse urban population, with a majority coloured population, and minorities of whites and blacks. The district has experienced rapid urbanisation and considerable demographic changes. In 2005, there were approximately 34 000 deliveries in the district (Patel, unpublished data).Study sites and services. The antenatal health service and cytogenetic laboratory service in CT West have been stable since the 1970s. The health service includes several primary and secondary level facilities, and tertiary level fetal medicine and pregnancy counselling services at Groote Schuur Hospital (GSH). The University of Cape Town (UCT) Cytogenetic Laboratory (CL) has provided prenatal and postnatal diagnostic laboratory services to CT West throughout the period. Prenatal diagnostic testing is almost exclusively by amniocentesis, and indications have included increased risk of DS (most commonly AMA, but more recently also based on ultrasound markers (first trimester nuchal translucency thickness and second trimester soft markers) and fetal anomalies detected on ultrasound. The age cut-off for AMA counselling has varied over the years.UCT CL database. The laboratory has maintained a database of samples received since the early 1970s. Initially this was a written record but all records were transferred to Microsoft Access in the mid-1990s, and a parallel written and computerised database was maintained. To improve data quality, the database was cleaned by cross-referencing blank or unclear computer data fields with the written records -the remaining missing data represented less than 5% of data points per category...