关于6751例孕妇产前诊断指征分布的回顾性分析:基于核型与染色体微阵列技术(CMA)的研究  

Retrospective analysis of the distribution of prenatal diagnostic indications in 6751 pregnant women:a study based on karyotype and chromosome microarray technology(CMA)

作　　者：刘继红[1] 陈建华 刘昕 吕国健 牟凯[1] Liu Jihong;Chen Jianhua;Liu Xin;Lu Guojian;Mou Kai(Medical Genetics,Zibo Maternal and Child Health Hospital,Zibo 255000,China;Zibo City Beida Medical Zibo Hospital,Zibo 255000,China;Zhangdian District People's Hospital of Zibo City,Zibo255000,China)

机构地区：[1]淄博市妇幼保健院医学遗传科,山东淄博255000 [2]北大医疗淄博医院,山东淄博255000 [3]张店区人民医院产科,山东淄博255000

出　　处：《中国产前诊断杂志(电子版)》2025年第1期12-17,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：2023年度淄博市妇幼保健领域科研创新与科技引领计划项目(ZBFY2023013)。

摘　　要：目的探讨鲁中地区产前诊断指征的总体分布趋势及在异常核型分析与染色体微阵列技术(chromosomal microarray analysis,CMA)分布情况。方法将2017年至2023年淄博市妇幼保健院产前诊断中心行羊水穿刺的6751例孕妇作为对象,回顾性分析各项产前诊断指征以及其在异常核型和异常CMA的分布情况。结果产前诊断指征包括生化血清学筛查高风险2022例(29.95%,2022/6751)、无创产前基因检测(non-invasive prenatal testing,NIPT)高风险1310例(19.40%,1310/6751)、胎儿超声异常1059例(15.68%,1059/6751)、高龄2143例(31.74%,2143/6751)、不良孕产史434例(6.43%,434/6751)、夫妻双方染色体异常196例(2.90%,196/6751)、多个指征644例(9.54%,644/6751);高龄、唐筛、NIPT高风险基本占据产前诊断指征的前三位;NIPT高风险在13三体、18三体、21三体、性染色体数目异常的筛出量较多,高龄在21三体筛出量较多,NIPT高风险在各项染色体异常中显著性均为最强(P<0.0001);在所有产前诊断指征中,NIPT高风险检出数量在致病性变异中为最高,而且在筛选致病性变异的显著性最高。结论本研究汇总2017―2023年产前诊断指征分布趋势,同时分析在异常核型和异常CMA检测结果下的产前诊断指征分布变化,NIPT高风险和胎儿超声异常正逐步取代唐筛,成为鲁中地区主要的产前诊断指征。Objective This study aims to investigate the distribution trends of prenatal diagnostic indications in central Shandong and their association with abnormal karyotype analysis and Chromosomal Microarray Analysis(CMA)results.Methods A retrospective analysis was performed on 6,751 pregnant women who underwent amniocentesis at our prenatal diagnosis center from2017 to 2023.Various prenatal diagnostic indications and their distributions in abnormal karyotypes and abnormal CMA results were examined.Results The primary prenatal diagnostic indications included biochemical serological screening in 2,022 cases(29.95%),non-invasive prenatal testing(NIPT)in 1,310 cases(19.40%),fetal ultrasound abnormalities in 1,059 cases(15.68%),advanced maternal age in 2,143 cases(31.74%),adverse pregnancy history in 434 cases(6.43%),chromosomal abnormalities in both spouses in 196 cases(2.90%),and multiple indications in 644 cases(9.54%).The top three indications for prenatal diagnosis were advanced maternal age,Tang screening,and high-risk NIPT results.NIPT demonstrated higher detection rates for high-risk cases associated with trisomy 13,trisomy 18,trisomy 21,and sex chromosome number abnormalities,while advanced maternal age was correlated with an increased detection rate of trisomy 21,the high risk of NIPT was the most significant among all chromosome abnormalities(P<0.0001).Among all prenatal diagnostic indicators,high-risk NIPT accounted for the highest number of pathogenic variants detected,and the significance in screening for pathogenic variants was the highest.Conclusion This study summarizes the distribution trends of prenatal diagnostic indicators from 2017 to 2023 and analyzes the shifts in these indicators in the context of abnormal karyotype and CMA results.In central Shandong,high-risk NIPT and fetal ultrasound abnormalities are gradually replacing Tang screening as the primary prenatal diagnostic indicators.

关 键 词：产前诊断指征 核型分析 染色体微阵列技术 

分 类 号：R714.55[医药卫生—妇产科学]