中国的早孕期、中孕期及三联筛查唐氏综合征。
First trimester, second trimester, and integrated screening for Down's syndrome in China.
机构信息
Center of Prenatal Diagnosis, Maternity and Child Health Care Hospital Affiliated to Jiaxing University College of Medicine, China.
出版信息
J Med Screen. 2012 Jun;19(2):68-71. doi: 10.1258/jms.2012.011145. Epub 2012 May 31.
OBJECTIVE
To compare the effectiveness of first trimester, second trimester, and integrated screening for Down's syndrome.
SETTING
Two prenatal diagnosis centres in China.
METHODS
A total of 11,966 pregnant women (≥18 years) were screened over 21 months. First trimester screening (11-13 weeks) comprised measurement of serum free beta-human chorionic gonadotrophin (β-hCG) and pregnancy-associated protein-A concentrations, and fetal nuchal translucency thickness. Second trimester screening (15-20 weeks) comprised measurement of β-hCG and alpha fetoprotein concentrations. Computer software was used to calculate the risk of carrying a Down's syndrome fetus.
RESULTS
The overall incidence of Down's syndrome was 0.2% (23/11,966). When the false-positive rate was fixed at 5%, detection rates for first trimester, second trimester, and integrated screening were 73.9%, 69.6%, and 82.6%, respectively. When the false-positive rate was fixed at 3%, detection/sensitivity rates for first trimester, second trimester, and integrated screening were 65.2%, 56.5%, and 73.9%, respectively.
CONCLUSIONS
These findings suggest that integrated screening was the most effective means of screening for Down's syndrome in a Chinese population.
目的
比较唐氏综合征的早孕期、中孕期和联合筛查的效果。
地点
中国的两家产前诊断中心。
方法
在 21 个月的时间里，共有 11966 名（≥18 岁）孕妇接受了筛查。早孕期筛查（11-13 周）包括测量血清游离人绒毛膜促性腺激素（β-hCG）和妊娠相关蛋白 A 浓度以及胎儿颈项透明层厚度。中孕期筛查（15-20 周）包括测量β-hCG 和甲胎蛋白浓度。计算机软件用于计算携带唐氏综合征胎儿的风险。
结果
唐氏综合征的总发生率为 0.2%（23/11966）。当假阳性率固定为 5%时，早孕期、中孕期和联合筛查的检出率分别为 73.9%、69.6%和 82.6%。当假阳性率固定为 3%时，早孕期、中孕期和联合筛查的检出/敏感度率分别为 65.2%、56.5%和 73.9%。
结论
这些发现表明，在中国人群中，联合筛查是筛查唐氏综合征最有效的方法。
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