Division of Human Genetics, University of Cape Town.
S Afr Med J. 2011 Jan;101(1):45-8. doi: 10.7196/samj.4188.
The prenatal screening programme for Down syndrome (DS) in the South African public health sector remains primarily based on advanced maternal age (AMA). We assessed the changes over time and effectiveness of this screening programme within a Cape Town health district.
Retrospective analysis of the Groote Schuur Hospital Cytogenetic Laboratory and Pregnancy Counselling Clinic databases and audit of maternal delivery records at a primary health care facility.
The number of amniocenteses performed for AMA in consecutive 5-year periods reduced progressively from 786 in 1981 - 1985 to 360 in 2001 - 2005. Comparing prenatal with neonatal diagnoses of DS, the absolute number and the proportion diagnosed prenatally have remained relatively constant over time. The Pregnancy Counselling Database showed that, of 507 women receiving genetic counselling for AMA in 2008 - 2009, 158 (3.1.1%) accepted amniocentesis--uptake has reduced considerably since the early 1990s. The audit of women delivering at a primary care facility found that only 10 (16.4%) of 61 AMA women reached genetic counselling in tertiary care: reasons included late initiation of antenatal care and low referral rates from primary care.
Prenatal screening and diagnosis for DS based on AMA is working ineffectively in the Cape Town health district assessed, and this appears to be representative of a broader trend in South Africa. Inclusion of fetal ultrasound in the process of prenatal screening for DS should be explored as a way forward.
南非公共卫生部门的唐氏综合征（Down syndrome，DS）产前筛查计划主要基于高龄产妇（advanced maternal age，AMA）。我们评估了在开普敦卫生区，该筛查计划随时间的变化和有效性。
回顾性分析格罗特舒尔医院细胞遗传学实验室和妊娠咨询诊所的数据库，并对初级保健设施的产妇分娩记录进行审核。
连续 5 年，AMA 进行羊膜穿刺术的数量逐渐减少，从 1981-1985 年的 786 例减少到 2001-2005 年的 360 例。比较产前和新生儿 DS 诊断，绝对数量和产前诊断的比例随时间相对保持不变。妊娠咨询数据库显示，在 2008-2009 年，有 507 名 AMA 接受遗传咨询的女性中，有 158 名（3.1.1%）接受了羊膜穿刺术，自 20 世纪 90 年代初以来，接受率大大降低。对在初级保健设施分娩的女性进行审核发现，在 61 名 AMA 女性中，只有 10 名（16.4%）接受了三级保健的遗传咨询：原因包括产前保健开始较晚和初级保健转诊率低。
在所评估的开普敦卫生区，基于 AMA 的 DS 产前筛查和诊断效果不佳，这似乎代表了南非更广泛的趋势。应探讨将胎儿超声纳入 DS 产前筛查过程，作为前进的方向。
