孕期血清学筛查及超声检查在诊断胎儿染色体异常中的价值

Role of prenatal serum screening and ultrasound in diagnosis of fetal chromosome abnormality

目的探讨唐氏儿血清学筛查及超声检查在诊断胎儿染色体异常中的价值。方法对近3年我院5907例孕妇血清学筛查结果及40例因胎儿结构异常进行染色体检查的病例进行回顾性分析。结果5907例孕妇中检出唐氏儿高危病例521例(含82例年龄≥35岁的孕妇),阳性率8.82%,共有198例进行了羊膜腔穿刺,穿刺率38%。40例胎儿畸形病例引产时取胎儿血或羊水进行染色体检查,成功率100%。共诊断17例胎儿染色体异常,其中21三体8例,18三体3例,13三体1例,1Turner综合征1例,Klinefelter综合征1例,18染色体短臂微缺失1例,9号染色体臂间倒位2例(1例来源于母亲)。17例中有8例进行了唐氏儿血清学筛查,5例异常,11例超声检查胎儿有结构异常。与染色体异常有关的畸形主要包括多发畸形、心脏畸形、胎儿水肿、消化道畸形等。结论应加强宣教,提高唐氏儿血清学筛查及高风险孕妇羊膜腔穿刺率;超声检查在胎儿染色体异常诊断中具有重要价值。

Objective To study the role of prenatal serum screening and ultrasound in diagnosis of abnormal chromosome in fetuses.Methods Serum screening data of 5 907 pregnant women with Down＇s syndrome and abnormal chromosome in 40 fetuses,admitted to our hospital during the past 3 years,were retrospectively analyzed.Results Among the 5 907 pregnant women,high risk for Down＇s syndrome was detected in 521（8.82%） including 82 with their age≥35 years.Of these 521 women,198 underwent amniocentesis with a success rate of 38%.Blood or amniotic fluid samples taken from 40 terata during their induction for the detection of abnormal chromosome.Abnormal chromosome was detected in 17 fetuses.Among them,trisome 21,trisome 18,trisome 13,Turner syndrome,Klinefelter syndrome,short arm deletion of chromosome 18,and inverted chromosome 9 were detected in 8,3,1,1,1,and 2 fetuses,respectively.Abnormal chromosome was found in 5 out of 8 fetuses who received serum screening.Ultrasound showed abnormal chromosome in 11 fetuses.Abnormal chromosome-related malformations mainly included multi-malformation,heart malformation,fetal edema and digestive malformation.Conclusion The success rate of serum screening and amniocentesis for pregnant women with Down＇s syndrome should be improved.Ultrasound plays an important role in the diagnosis of abnormal chromosome in fetuses.