目的 初步探讨无创产前基因检测（NIPT）筛查胎儿患猫叫综合征临床性能。方法 收集2018年4月—2019年3月行NIPT提示胎儿患猫叫综合征高风险的孕妇,并收集其羊水细胞培养染色体核型分析或微阵列芯片检测结果,分析NIPT与羊水产前诊断结果的符合率。结果 NIPT提示猫叫综合征病例11例,孕妇均接受了羊水穿刺,染色体核型分析或微阵列芯片检测出胎儿染色体异常6例,符合率为54.5%。结论 NIPT对胎儿猫叫综合征的筛查具有临床价值,当提示高风险时必须行有创性产前诊断。

Objective To investigate the value of non-invasive prenatal testing（NIPT）for the screening of fetal Cri du Chat Syndrome（CdCS）. Methods Pregnant women who accepted NIPT with the results with high risk of fetal CdCS were selected in the study from April 2018 to March 2019．They were also accepted prenatal genetic counseling and the chromosome karyotype analysis or CMA detection of amniotic fluid cell culture．The coincidence rate of NIPT with chromosome karyotype and microarray analysis results were conducted. Results There were 11 cases with high risk of fetal CdCS in NIPT．All of them had received amniocentesis chromosome karyotype or microarray analysis,6（54.5%）cases were confirmed. Conclusions NIPT has some clinical value in screening fetal CdCS from maternal blood．Therefore,it was suggested to perform the invasive chromosomal karyotyping and CMA for high risk of fetal CdCS．