【摘要】 目的 探讨染色体核型分析联合拷贝数变异检测(CNV-seq)技术在羊水产前诊断中的应用价值。方法 选取2018年10月—2023年3月在南平市妇幼保健院遗传门诊就诊、具备产前诊断指征且接受羊膜腔穿刺的孕妇1 124例，采用染色体核型分析和CNV-seq技术进行产前诊断，比较二者单独及联合应用的诊断结果。结果 CNV-seq技术和染色体核型分析技术共同检出54例异常病例，CNV-seq技术检出152例拷贝数变异(CNVs),CNV-seq技术检出率(13.5%,152/1 124)高于染色体核型分析技术检出率(5.2%,58/1 124)。不同产前诊断指征孕妇中，无创产前诊断(NIPT)高风险、不良孕育史、超声软指标异常、高龄、血清学高风险致病性检出率较高，分别为24.7%、5.6%、5.1%、3.2%、2.7%。CNV-seq技术和染色体核型分析技术联合检出9例嵌合体(0.8%)。结论 CNV-seq和染色体核型分析技术联合应用提高了产前诊断准确性，有效预防了缺陷儿的出生。更多还原

【Abstract】 Objective To explore the application value of copy number variation sequencing(CNV-seq) combined with chromosome karyotype analysis in prenatal diagnosis of amniotic fluid.Methods A total of 1 124 pregnant women with indications for prenatal diagnosis who underwent amniocentesis in Genetic Clinic of Nanping Maternal and Child Health Care Hospital from October 2018 to March 2023 were selected, Karyotyping and CNV-seq were used for prenatal diagnosis, and the diagnostic results of the two techniques alone and combination were compared.Results CNV-seq combined with chromosome karyotype technology detected 54 abnormal cases, CNV-seq technology detected 152 copy number variations(CNVs), the detection rate of CNV-seq(13.5%,152/1 124) was higher than that of chromosome karyotype analysis(5.2%, 58/1 124). Among the pregnant women with different indications for prenatal diagnosis, the detection rates of high-risk noninvasive prenatal diagnosis(NIPT), adverse pregnancy history, abnormal ultrasound soft markers, advanced age, and high-risk serological pathogenicity were 24.7%, 5.6%, 5.1%, 3.2%, and 2.7%, respectively. Nine cases(0.8%) with chimera were detected by CNV-seq combined with chromosome karyotype analysis. Conclusion CNV-seq combined with chromosome karyotype analysis improves the accuracy of prenatal diagnosis, and effectively prevents the birth of fetuses with birth defects.更多还原