目的：探讨孕早期鼻骨（NB）、颈项透明层厚度（NT）及孕中期母体血清甲胎蛋白（AFP）和游离β绒毛膜促性腺激素（free-β- HCG）检测在筛查唐氏综合征（DS）中的意义和作用。方法对2010年3月-2014年6月来该院妇产保健门诊及住院的单胎孕妇共2185例，于孕11～14周分别进行NB及NT测量，NB缺失为异常，NT≥3 mm为高危；所有孕妇均于孕15～21周进行母血清标志物AFP和free-β- HCG测定，利用DS产前筛查分析系统软件评估DS风险率，风险率≥1/270为高危。对筛查出的NB缺失、NT高危及DS高危孕妇进行遗传学咨询，在知情同意下进行羊膜腔穿刺羊水细胞染色体检查。对所有孕妇随访至妊娠结局，对A组（NB+NT）、B组（NB+血清学检查）、C组（NB+NT+血清学检查）筛查结果进行比较、分析。结果联合筛查组（C组）筛查高危的DS发生率明显高于其余两组，与A、B两组比较，差异有统计学意义（=0.043）。结论在孕早期胎儿NB、NT、孕中期血清学3者联合筛查，可提高胎儿DS产前筛查的可靠性，使有创性诊断羊水穿刺更有针对性。%Objective To discuss the value of ultrasonic measurement of fetal nasal bone (NB) and nuchal translucency (NT) thickness during the first trimester of pregnancy and maternal AFP and free-β-HCG detection during the second trimester of pregnancy in identifying Down's syndrome (DS). Methods A total of 2,185 pregnant women in the outpatient and inpatient departments from March 2010 to June 2014 were selected. The NB and the thickness of NT were detected by ultrasound from the 11th to 14th gestational week. The absence of nasal bone was abnormal and NT≥3 mm was designed as high risk. The levels of maternal serum AFP and free-β-HCG were detected from the 15th to 21st gestational week. The risk of DS was assessed by the software of analysis system of DS prenatal screening, and the risk rate ≥1/270 was designed as high risk. Amniotic membrane puncture was performed for chromosome examination of amniotic fluid cells under informed consent. The screening results were compared among group A (NB+NT), group B (NB+maternal serological test) and group C (NB+NT+maternal serological test). Results The incidence of DS in the group C was significantly higher than that of the groups A and B ( < 0.05). Conclusions The joint measurement of NB+NT+maternal serological test can improve the reliability of prenatal screening for DS, and improve the pertinence of invasive amniocentesis.
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