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目的探讨利用孕妇血清筛查和胎儿超声筛查进行18-三体综合征胎儿产前诊断的有效性。方法对36例首诊主诉为产前筛查胎儿18-三体高危,92例首诊主诉为胎儿超声有异常发现的孕18~20周孕妇共128例,进行羊膜腔穿刺羊水细胞培养分析。结果128例胎儿核型中,9例为18-三体综合征,2例为其他染色体异常,染色体异常发现率为8.59%(11/128)。首诊主诉为18-三体高危发现18-三体4例,异常发现率11.11%(4/36);首诊主诉胎儿超声异常发现18-三体5例,其他染色体异常2例,异常发现率为7.61%,其中2例18-三体合并有筛查高危和超声异常。结论孕妇血清生化指标筛查结合胎儿超声检查是产前检出18-三体胎儿的有效筛查手段。
Objective To explore the use of maternal serum screening and fetal ultrasound screening of 18-trisomy syndrome prenatal diagnosis of the effectiveness of the fetus. Methods Thirty - six cases of first diagnosis were enrolled as prenatal screening for high risk of fetus 18 - trisomy, and the first case was 92 cases of pregnant fetus with abnormal findings of fetus 18 ~ 20 weeks. 128 cases of amniotic fluid cell culture were analyzed. Results Among 128 cases of fetal karyotype, 9 cases were 18-trisomy syndrome and 2 cases were other chromosomal abnormalities. The chromosomal abnormality was found in 8.59% (11/128) cases. The first complaint was 18-trisomy 18-trisomy 18 cases found in 4 cases, the abnormal detection rate was 11.11% (4/36); first diagnosis complained of fetal ultrasound abnormalities in 18 cases of trisomy in 5 cases, other chromosomal abnormalities in 2 cases, abnormal findings The rate was 7.61%, of which 2 cases 18-trisomy combined with screening for high-risk and ultrasound abnormalities. Conclusion The screening of serum biochemical markers in pregnant women combined with fetal ultrasound examination is an effective screening method for prenatal detection of 18-trisomy fetus.