绒毛、羊水、脐血三种有创诊断胎儿染色体异常的比较

Comparison of three kinds of invasive diagnosis of fetal chromosome:villus,amniotic fluid and umbilical blood

目的对绒毛、羊水和脐血三种有创诊断胎儿染色体异常的比较。方法选择2022年1月—2023年12月高危孕妇于本院产前诊断中心行绒毛、羊水、脐血有创产前诊断的1021例患者作为研究对象,并于孕11~13+6周,采用绒毛穿刺法获取绒毛标本;孕18~24周,采用羊膜腔穿刺法获取羊水标本;孕24周后,采用脐带穿刺法获取脐血标本。对获得的3种标本通过染色体核型分析及染色体微陈列分析进行染色体检查。结果绒毛穿刺、羊膜腔穿刺及脐带穿刺术后发生并发症的概率分别是5.9%、0.4%和8.7%。染色体检查结果显示:绒毛标本的细胞培养失败率达到6.9%,限制性胎盘嵌合体(CPM)占7.9%,真性胎儿嵌合体(TFM)占2.0%;羊水标本的细胞培养失败率为0,限制性胎盘嵌合体数量为0,真性胎儿嵌合体占0.97%;脐血标本的细胞培养失败率为0,限制性胎盘嵌合体数量为0,真性胎儿嵌合体占1.2%。三种标本的取材手术并发症发生概率比较,差异具有统计学意义(P<0.05)。三种标本实验室检查胎儿染色体结果的准确性比较,差异具有统计学意义(P<0.05)。结论通过对标本获取做手术并发症和染色体检查结果的准确性对比分析,认为羊水是产前诊断最理想的标本。

Objective To compare the accuracy of villus,amniotic fluid and cord blood in invasive diagnosis of fetal chromosomes.Methods From January 2022 to December 2023,a total of 1021 patients who received invasive prenatal diagnosis of villus,amniotic fluid and umbilical cord blood in the prenatal diagnosis center of our hospital were selected as study subjects.During 11 and 13+6 weeks of pregnancy,villus specimens were obtained by villus puncture.From 18 to 24 weeks of pregnancy,amniotic fluid samples were obtained by amniocentesis.After 24 weeks of gestation,umbilical cord blood samples were obtained by umbilical cord puncture.Karyotype analysis and chromosome microarray analysis were used to examine the chromosomes of the three specimens.Results The probability of complications after villus puncture,amniocentesis and umbilical cord puncture were 5.9%,0.4%and 8.7%,respectively.The results of chromosome examination showed that the failure rate of cell culture of villus samples was 6.9%,confined placental mosaicism(CPM)accounted for 7.9%,and true fetal mosaicism(TFM)accounted for 2.0%.The failure rate of cell culture of amniotic fluid samples was 0,the number of confined placental mosaicism was 0,and the true fetal mosaicism accounted for 0.97%.The failure rate of cell culture of cord blood samples was 0,the number of confined placental mosaicism was 0,and the true fetal mosaicism accounted for 1.2%.Compared the probability of complications of the three kinds of specimens,the difference was statistically significant(P<0.05).The accuracy of the results obtained from the laboratory examination of fetal chromosomes with three standards was compared,and the difference was statistically significant(P<0.05).Conclusions By comparing and analyzing the surgical complications and accuracy of chromosome examination results,it is considered that amniotic fluid is the most ideal sample for prenatal diagnosis.