探讨唐氏综合征在正常孕妇与高危孕妇的发病率。

对2004年6月至2006年3月本院收治的588例孕9〜22周孕妇，采用比利时T21 * SOFT-w软件作血清风险评估，结合彩色多普勒超声(彩超)测量胎儿颈部半透明厚度、股骨长度、胎耳长度及胎儿结构等，综合对唐氏综合征筛查进行评估。对筛查出的高风险患者行羊水或脐带血染色体确诊，并设高危病例与普通病例对照分析。

高危病例较普通病例的21-三体、胎儿开放型神经管缺陷(ONTD，包括无脑儿、脊椎裂、脑积水等)发病率高，差异有显著意义(P<0. 05)；高危病例与普通病例18-三体发病率差异无显著意义(P>0. 05)；孕妇血清结合彩超筛查，可提高21-三体、ONTD检出率。

孕妇血清风险评估结合彩超诊断对孕早、中期唐氏综合征筛查有重要的意义。

To investigate the incidence of Down's syndrome in the normative pregnant woman and the high risk pregnant woman.

Multi-marks such as the maternal serum markers of Belgium software T21 * SOFT-w, nuchal translucency, femur length, fetal ear length and abnormal structure with color doppler flow imaging(CDFI)was used for screening Down's syndrome in 588 pregnant women at about 9~22 weeks from June 2004 to March 2006.

Incidence of Down's syndrome and ONTD(anencephaly, rachischisis, hydrocephalus, et al)in the high risk pregnancy group were significantly higher than that in the normative group(P<0. 05); incidence of trisomy 18 syndrome was no significant difference between two groups(P>0. 05). The sensitivity and specificity for screening Down's syndrome and ONTD was increased by the maternal serum markers with CDFI than just by the maternal serum markers or by CDFI.

Serum marks with CDFI may play an important role in screening for Down's syndrome at early and mid pregnancy.