Liu Qi-lan, Hu Ya-li, Xu Zhen-feng, Wang Li-juan, Sun Qing, Lin Ning, Xu Xiao-yan, Liu Yan, Zhang Jian-wei, Tong Jian-sun, Wang Xing-hai, He Jing
Jiangsu Provincial Institute of Science and Technology for Family Planning, Nanjing, Jiangsu, 210036 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):340-2. doi: 10.3760/cma.j.issn.1003-9406.2010.0.023.
To screen and diagnose Down's syndrome during mid-term pregnancy to reduce the number of babies with Down's syndrome.
With the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and beta-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses.
Six fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9).
The prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.
在孕中期筛查和诊断唐氏综合征，以减少唐氏综合征患儿的数量。
采用多级分层整群抽样方法，对20803例孕15 - 20周的孕妇，应用时间分辨荧光免疫分析法（TRFIA）检测母血清甲胎蛋白（AFP）和β-人绒毛膜促性腺激素（β-hCG）进行筛查。对筛查出的高危孕妇进行羊膜腔穿刺、细胞培养及染色体分析确诊。对出生的儿童进行随访及外周血染色体分析确诊。
血清学筛查及羊水染色体分析确诊6例胎儿，随访及外周血染色体分析确诊3例出生儿童。共检出9例唐氏综合征，产前筛查阳性率为67%（6/9）。
产前筛查与诊断可减少唐氏综合征患者的出生，提高人口素质。然而，诊断准确性仍需提高，以进一步降低假阴性率，防止误诊。
