摘要
目的探讨染色体微阵列分析(CMA)对孕中晚期产前胎儿鼻骨发育不良的染色体拷贝数变异(CNV)的临床诊断价值,为孕妇的科学妊娠提供理论依据。方法收集2018年9月-2022年6月在深圳市龙岗区妇幼保健院产前诊断中心进行超声检查,提示为鼻骨发育不良或合并其他超声异常的孕妇227例。行羊水穿刺或脐带血穿刺,进行CMA检测和传统核型分析。包括89例单纯胎儿鼻骨发育不良和138例胎儿鼻骨发育不良合并其他超声异常,比较这两组之间核型异常及拷贝数变异的检出率。结果核型分析在227例病例中检测到45例染色体异常(45/227,19.8%),包括31例21三体、7例18三体、2例46XX,del(4)(p16)、2例45,X综合征、1例47,XYY综合征、1例46,XY,del(5)(p15)和1例46,XY,del(22)(q12.1)。CMA额外检出9例致病性CNV胎儿和7例临床意义不明(VOUS)胎儿。单纯鼻骨发育不良病例与合并其他超声异常的病例比较,染色体核型异常的检出率差异有统计学意义(χ^(2)=0.78,P<0.05),染色体拷贝数变异的检出率差异无统计学意义(χ^(2)=0.31,P>0.05)。45例染色体异常和9例致病性CNVs胎儿选择终止妊娠;7例VOUS病例均选择继续妊娠,正常分娩后随访新生儿的临床表型均正常。结论CMA可有效检出核型正常的鼻骨发育不良胎儿的拷贝数变异情况,提供基因组与临床表型相关性,为产前遗传咨询中准确评估胎儿鼻骨发育不良预后和决定是否继续妊娠提供理论依据。
Objective To explore the clinical value of chromosome microarray analysis(CMA)for the prenatal diagnosis of nasal bone hypoplasia compared with copy number variation(CNV)in the second and third trimesters.Methods From September 2018 to June 2022,227 pregnant women with nasal bone dysplasia or other ultrasonic abnormalities were collected from the Prenatal testing center of Longgang district Maternal and Child Health Hospital in Shenzhen.Amniocentesis or cord blood puncture were performed for CMA detection and traditional karyotype analysis.The subjects included 89 cases with fetal nasal bone hypoplasia isolated and 138 cases with fetal nasal bone hypoplasia combined with other ultrasound findings and the prevalence of genomic abnormality was compared between these two groups.Results Karyotyping was detected 45 cases of chromosomal anomaly among 227 study subjects(45/227,19.8%),including 31 cases with trisomy 21,7 cases with trisomy 18,2 cases with 46 XX,del(4)(p16),2 cases with 45,X,1 case with 47,XYY and 1 case with 46,XY,del(5)(p15),1 case with 46,XY,del(22)(q12.1).Compared with karyotyping CMA detected additional nine fetuses with pathogenic copy number variations(CNVs)and seven fetuses with variants of unknown significance(VOUS).There is a statistically significant difference in the detection rate of chromosomal karyotype abnormalities between cases of simple nasal bone dysplasia and cases with other ultrasound abnormalities(χ^(2)=0.78,P<0.05),there was no statistically significant difference in the detection rate of genomic copy number variation(χ^(2)=0.31,P>0.05).The pregnancy was terminated in 45 fetuses detected with chromosomal abnormality and 9 fetuses detected with pathogenic CNVs.Among the other seven fetuses detected with VOUS,the parents chose to continue the pregnancy,and the newborns all had normal clinical phenotypes.Conclusion CMA could be a promising tool for detecting fetuses with nasal bone hypoplasia that might provide valuable data for the accurate assessment of fetal prognosis and the decision of pregnancy continuation during the prenatal clinical counseling.
作者
罗小金
丛潇怡
温丽娟
刘金星
曾康强
刘效伊
牛宏艳
周飞
郭岩芸
LUO Xiaojin;CONG Xiaoyi;WEN Lijuan;LIU Jinxing;ZENG Kangqiang;LIU Xiaoyi;NIU Hongyan;ZHOU Fei;GUO Yanyun(Central Laboratory,Longgang District Maternity&Child Heathcare Hospital of Shenzhen city(Longgang Maternity and Child Institute of Shantou University Medical College),Shenzhen,Guangdong 518172,China;Community Management Center,Longgang District People's Hospital of Shenzhen City,Shenzhen,Guangdong 518172,China)
出处
《热带医学杂志》
CAS
2023年第8期1088-1091,1156,共5页
Journal of Tropical Medicine
基金
广东省医学科学技术研究基金项目(A2017359)
深圳市龙岗区医疗卫生科技计划项目(LGKCYLWS2020106,LGKCYLWS2020157)
关键词
产前诊断
鼻骨发育不良
染色体微阵列分析
拷贝数变异
Prenatal diagnosis
Nasal bone hypoplasia
Chromosome microarray analysis
Copy number variation
作者简介
罗小金(1981-),男,硕士,副主任技师,主要从事产前诊断、细胞遗传学、分子遗传学等相关临床工作;通信作者:郭岩芸,E-mail:33498842@qq.com
