超声探测颈部透明带检出胎儿染色体异常

Detection of chromosomally abnormal fetuses by nuchal translucency

目的 评价超声探测颈部透明带或颈部水肿在检出胎儿染色体异常方面的作用。方法 于孕 10～ 14周测量胎儿颈部透明带厚度 ,或孕 14周后测量胎儿颈部皮肤厚度 ,并随诊观察。结果 通过超声探测共检出 12例非整倍体型染色体异常的胎儿 ,5例正常染色体但随诊发现严重并发症的胎儿。与颈部透明带增厚但染色体及预后正常的胎儿相比 ,上述异常胎儿在孕 10～ 14周时的颈部透明带显著增厚 (平均厚度 6.1mm对 3.6mm) ,且大多数进展为妊娠中期时的颈部水肿 ,并合并其他超声异常。结论 超声测量颈部透明带厚度能早期有效地检出染色体异常及合并其他严重并发症的胎儿 。

Objective To assess the ultrasonographic detection of nuchal translucency or nuchal edema in identifying chromosomally abnormal fetuses.Methods Fetal nuchal translucency thickness was measured between 10～14 weeks of gestation,or nuchal fold thickness after 14 weeks,with serial follow-up ultrasound examinations.Results In a 2-year period,12 aneuploid fetuses had been identified,together with 5 fetuses of normal karyotype but fatal prognosis.Compared with the fetuses of increased nuchal translucency but normal karyotype and normal follow-up,they had a much thicker nuchal translucency in the first trimester (average 6.1 mm vs 3.6 mm),and in most cases the nuchal translucency evolved into nuchal edema in the second trimester,with other abnormalities detected by ultrasound.Conclusions Detection of increased nuchal translucency by ultrasound is effective in detecting chromosomally abnormal fetuses or fetuses with other abnomalities,and the changes of nuchal translucency observed by follow-up ultrasound may play an important role in differential diagnosis and predicting the prognosis.