9例18三体综合征胎儿的产前诊断

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18~32周孕妇共128例，进行羊膜腔穿刺羊水细胞培养、或脐血管穿刺脐血细胞培养染色体分析。结果128例胎儿核型中，9例为18三体综合征，2例为其它染色体异常，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，其它染色体异常2例，异常发现率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。

Prenatal diagnosis for trisomy 18——analysis of 9 cases

Objective To assess the effectiveness of prenatal screening with maternal serum markers and the sonographic characteristics of the foetus for detecting trisomy 18. Methods Amniotic fluid or the fetal blood samples were obtained and cultured in women with positive results in serum screening (n=36) and with abnormal findings in sonography (n=92) at 18~32 weeks of gestation, and then fetal karyotyping was performed. Results Nine cases of trisomy 18 and 2 cases of other abnormal karyotype were found among the 128 pregnant women (8.59%, 11/128). Four cases were diagnosed as trisomy 18 among the 36 women with positive screening results. The rate of abnormal karyotype among those women with abnormal sonographic findings was 7.61%(7/92,5 cases of trisomy 18 and 2 cases of other abnormal karyotype). Two cases of trisomy 18 had both positive result in screening and abnormality in sonography. Conclusions Prenatal screening for maternal serum markers combined with sonographic examinations for the fetus is effective in detecting foetus with trisomy 18.