13及18三体综合征胎儿的产前超声筛查

Prenatal ultrasound study of trisomy 13 and 18

目的:对13及18三体综合征胎儿的超声表现特征和产前超声筛查价值的评价。方法:对14例经脐血胎儿染色体核型分析确诊为13三体及18三体的胎儿超声表现进行分析。结果:14例胎儿产前超声检查均发现二项以上的超声表现异常,其中心脏结构异常11例(78.6%);羊水过多9例(64.3%);脑室增宽8例(57.1%);胎儿生长受限7例(50.0%);脐动脉血流指标增高5例(35.7%);食道闭锁4例(28.6%);脐疝3例(21.4%);腕关节异常1例(7.1%);唇裂1例(7.1%)。结论:超声产前筛查能有效地检出13及18三体综合征的高风险胎儿,有助于提高胎儿染色体异常的产前诊断。

Objective： To evaluate sonographic characteristics on prenatal ultrasound study of trisomy 13 and 18 . Methods： To analyze the sonographic characteristics of 14 fetus which had been karyotyped to be trisomy 13 and 18. Results： Ultrasound studies demon- strated that 14 cases chromosomal defects were associated with multiple fetal abnormalities, including 11 cases cardiac abnormalities （78.6%）, 9 cases hydro amnio fluids （64.3% ）, 8 cases mild ventriculomegaly （57. 1% ）, 7 cases fetal growth restriction （FGR） （50%） , 5 cases abnormal umbilical arterial doppler waveforms （35.7%）, 4 cases esophageal atresia （28.6%）, 3 cases exomphalos （21.4%）, 1 cases clubhands （7. 1% ）, 1 cases cleft lip （7. 1% ） . Conclusion： High risk fetus with trisomy 13 and 18 can be detected by routine ultrasound examination, the prenatal diagnosis rate of fetul abnormaly can be increased by prenatal ultrasound study.