Jaques Alice M, Collins Veronica R, Haynes Kerry, Sheffield Leslie J, Francis Ivan, Forbes Robin, Halliday Jane L
Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Australia.
J Med Screen. 2006;13(1):8-13. doi: 10.1258/096914106776179782.
The Genetic Health Services Victoria maternal serum screening (MSS) quadruple test has been available to pregnant women in Victoria since 1996. The objectives of this study were to follow up the pregnancies screened by MSS between July 1998 and June 2000 and to determine the performance characteristics of the test for Down's syndrome, trisomy 18 and neural tube defects (NTDs).
MSS results were matched to pregnancy outcome information from the Perinatal Data Collection Unit and Birth Defects Register, using automated probabilistic record linkage. For unmatched pregnancies, manual follow-up was carried out by contacting referring doctors and hospitals, resulting in a very high follow-up rate of 99.2% (18,989/19,143).
The sensitivity of MSS for Down's syndrome was 85% (23/27-95%CI 72-99%) with a falsepositive rate (FPR) of 6.8% (risk threshold >or= 1 in 250). While using a fixed 5% FPR, the sensitivity for Down's syndrome was slightly lower (78%). The sensitivity for trisomy 18 was 44% (4/9 - 95% CI 12-77%) with a FPR of 0.5% (risk threshold of >or= 1 in 200). 11 of the 15 (73 - 95%CI 51-97%) cases of open NTDs were detected from screening, with a 1% FPR (risk threshold alpha-fetoprotein [AFP] >or=2.5 MoM). All cases of anencephaly had increased AFP levels.
Probabilistic record linkage and manual follow-up is an efficient method for ascertainment of pregnancy outcomes, with a higher follow-up rate than that reported in similar studies. MSS should remain an available option for all pregnant women in Victoria, with test characteristics comparable with other recent reports of the quadruple test.
自1996年起，维多利亚州遗传健康服务机构的孕妇血清筛查（MSS）四联检测就已提供给该州的孕妇。本研究的目的是对1998年7月至2000年6月期间接受MSS筛查的妊娠情况进行随访，并确定该检测对唐氏综合征、18三体综合征和神经管缺陷（NTDs）的性能特征。
利用自动化概率记录链接，将MSS结果与围产期数据收集单位和出生缺陷登记处的妊娠结局信息进行匹配。对于不匹配的妊娠，通过联系转诊医生和医院进行人工随访，随访率高达99.2%（18989/19143）。
MSS对唐氏综合征的敏感性为85%（23/27 - 95%CI 72 - 99%），假阳性率（FPR）为6.8%（风险阈值≥1/250）。在使用固定的5%FPR时，对唐氏综合征的敏感性略低（78%）。对18三体综合征的敏感性为44%（4/9 - 95%CI 12 - 77%），FPR为0.5%（风险阈值≥1/200）。15例开放性NTDs病例中有11例（73 - 95%CI 51 - 97%）通过筛查检测到，FPR为1%（风险阈值甲胎蛋白[AFP]≥2.5倍中位数）。所有无脑儿病例的AFP水平均升高。
概率记录链接和人工随访是确定妊娠结局的有效方法，随访率高于类似研究报告。MSS应继续作为维多利亚州所有孕妇的可用选择之一，其检测特征与其他近期四联检测报告相当。
