摘要
目的探讨多模态超声联合染色体微阵列分析(CMA)技术在血清学筛查结果为高风险的非高龄孕妇中的应用价值。方法选取2020年12月至2021年7月于宿迁市第一人民医院产前诊断门诊就诊的血清学筛查为高风险(不包含神经管缺陷高风险)的165例非高龄单胎孕妇作为研究对象,所有孕妇均行染色体核型分析(CKA)及CMA。根据超声检查是否存在结构异常,分为结构异常组(n=45)、非结构异常组(n=59)和无异常组(n=61),并将非结构异常组分为3个亚组:羊水量异常组(n=9)、宫内发育迟缓组(n=5)和软指标异常组(n=45)。比较各组间致病性拷贝数变异(pCNVs)检出情况。结果CKA检出致病性核型78例(47.27%),CMA成功并额外检出2例(1.21%)pCNVs,但二者检出率无显著差异(P>0.05)。在不同超声表型中,各组间pCNVs检出率差异显著(P<0.05),其中结构异常组pCNVs检出率(26.67%)较非结构异常组(10.17%)和无异常组(8.20%)均更高(P<0.05)。软指标异常组(11.11%,8.89%)和羊水量异常组(11.11%,11.11%)pCNVs和VOUS检出率均较高,但各组间无显著差异(P>0.05)。宫内发育迟缓组总检出率较高(60.00%),但均为bCNVs,各组间总检出率无显著差异(P>0.05)。结论多模态超声联合CMA能够较好地评估血清学筛查结果为高风险的非高龄孕妇胎儿的遗传学病因。
Objective To explore the application value of multimodal ultrasound combined with chromosome microarray analysis(CMA)in non⁃elderly pregnant women with high⁃risk serological screening results.Methods A total of 165 cases non⁃elderly singleton pregnant women who were diagnosed as high⁃risk(high risk of excluding neural tube defects)through serological screening at Suqian First Hospital′s prenatal diagnosis clinic from December 2020 to July 2021 were selected as the study subjects,and all pregnant women underwent chromosome karyotype analysis(CKA)and CMA.According to the presence of structural abnormalities during ultrasound examination,it is divided into structural abnormality group(n=45),non⁃structural abnormality group(n=59),and no abnormality group(n=61),and the non⁃structural abnormal group was divided into three subgroups:abnormal amniotic fluid volume group(n=9),intrauterine developmental delay group(n=5),and soft index abnormal group(n=45).The detection of pathogenic copy number variations(pCNVs)among groups were compared.Results CKA detected pathogenic karyotypes in 78 cases(47.27%),CMA also successfully detected 2 cases(1.21%)additional of pCNVs,but there was no significant difference between the two detection rates(P>0.05).In different ultrasound phenotypes,there was a significant difference in the detection rate of pCNVs among groups(P<0.05),with the detection rate of pCNVs in the structurally abnormal group(26.67%)being higher than that in the non⁃structural abnormality(10.17%)and no abnormality groups(8.20%)(P<0.05).The detection rates of pCNVs and VOUS were higher in the soft index abnormal group(11.11%,8.89%)and abnormal amniotic fluid volume group(11.11%,11.11%),but there was no significant difference between the groups(P>0.05).The total detection rate of intrauterine developmental delay group was higher(60.00%),but were all bCNVs,and there was no significant difference in the total detection rate among groups(P>0.05).Conclusions The combination of multimodal ultrasound and CMA can effectively evaluate the genetic causes of fetuses of non⁃elderly pregnant women with high⁃risk serological screening results.
作者
徐娟
赵雪飘
王丽杰
荣亚洲
朱红岩
XU Juan;ZHAO Xuepiao;WANG Lijie;RONG Yazhou;ZHU Hongyan(Department of Ultrasound,Suqian First Hospital,Suqian 223800,Jiangsu,China;Department of Obstetrics,Suqian First Hospital,Suqian 223800,Jiangsu,China)
出处
《中国性科学》
2023年第11期64-67,共4页
Chinese Journal of Human Sexuality
基金
江苏省妇幼健康科研项目(F202049)。
关键词
超声
染色体微阵列分析
产前诊断
高风险
非高龄孕妇
Ultrasound
Chromosome microarray analysis
Prenatal diagnosis
High risk
Nonelderly pregnant women
