早孕期胎儿鼻骨发育异常的遗传学病因  

Genetic analysis of fetuses with abnormal nasal bone development in early pregnancy

作　　者：黄冬冰 王林琳[1] 蒙达华[1] 谭舒尹[1] 覃桂灿 李薇 潘平山[1,2,3] Huang Dongbing;Wang Linlin;Meng Dahua;Tan Shuyin;Qin Guican;Li Wei;Pan Pingshan(Prenatal Diagnosis and Genetic Center,Maternity&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530000,China;Department of Ultrasonography,Maternity&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530000,China;Laboratory of Genetic and Metabolism Center,Maternity&Child Health Hospital of Guangxi Zhuang Autonomous Region,Nanning 530000,China)

机构地区：[1]广西壮族自治区妇幼保健院产前诊断与优生遗传科,南宁530000 [2]广西壮族自治区妇幼保健院超声科,南宁530000 [3]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530000

出　　处：《中华围产医学杂志》2025年第2期119-125,共7页Chinese Journal of Perinatal Medicine

基　　金：广西壮族自治区卫生健康委员会自筹课题(Z-A20220302,Z2016095)。

摘　　要：目的探讨早孕期胎儿鼻骨发育异常的遗传学病因。方法回顾性分析2015年1月至2023年5月422例孕11~13周+6超声筛查提示胎儿鼻骨发育异常,早孕期于广西壮族自治区妇幼保健院产前诊断与优生遗传科接受绒毛活检产前诊断的单胎妊娠病例的临床资料。所有病例均行染色体核型分析及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP-array)分析。根据是否合并其他异常超声指标分为非孤立性(247例)和孤立性组(175例)。分析2组的介入性产前诊断结果、染色体异常分布情况、拷贝数变异(copy number variation,CNV)检出情况,以及孕妇年龄、异常超声指标数目与染色体异常的关系和妊娠结局。采用χ^(2)检验(连续校正χ^(2)检验或Fisher精确概率法)进行统计学分析。结果(1)422例中,262例(62.1%)经2种技术检测均未见异常;160例检出异常,其中145例(34.4%)2种技术检测结果均异常且异常类型一致;2例(0.5%)核型分析检出染色体相互易位而SNP-array分析未检出;13例(3.1%)染色体核型分析未见异常,而SNP-array分析结果异常。本研究染色体异常的总体检出率为37.9%(160/422),与染色体核型分析相比,SNP-array分析额外检出率为4.7%(13/275)。(2)160例染色体异常包括140例非整倍体、18例CNV及2例染色体相互易位。非孤立组染色体异常总体检出率、非整倍体及致病性CNV检出率均高于孤立组[74.3%(130/175)与12.1%(30/247),χ^(2)=168.02;68.0%(119/175)与8.5%(21/247),χ^(2)=163.56;5.7%(10/175)与0.8%(2/247),χ^(2)=4.74;P值均<0.05]。SNP-array分析共检出18例CNV,其中孤立组8例,非孤立组10例。(3)422例孕妇年龄为(33.1±5.4)岁。孤立和非孤立组中,高龄孕妇(预产期年龄≥35岁)染色体异常检出率均高于非高龄者[孤立组:20.0%(17/85)与8.6%(14/162),χ^(2)=6.55;非孤立组:82.1%(69/84)与65.9%(60/91),χ^(2)=5.92;P值均=0.010];不论孕妇是否高龄,非孤立组的染色体异常检出�ObjectiveTo investigate the genetic causes of fetuses with abnormal nasal bone development in early pregnancy.MethodsA retrospective study was conducted which involved 422 cases of singleton pregnancies with nasal bone development abnormalities indicated by ultrasound screening at 11 to 13 weeks and 6 days of gestation,who underwent chorionic villus sampling for prenatal diagnosis at the Prenatal Diagnosis and Genetic Center,Maternity&Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to May 2023.All cases underwent chromosomal karyotype analysis and single nucleotide polymorphism array(SNP-array)analysis.Based on whether other abnormal ultrasound indicators were present,the cases were divided into isolated(175 cases)and non-isolated groups(247 cases).The results of invasive prenatal diagnosis,distribution of chromosomal abnormalities,detection of copy number variation(CNV)in fetuses with nasal bone development abnormalities,the relationship between maternal age,number of abnormal ultrasound indicators and chromosomal abnormalities,and pregnancy outcomes were analyzed.Statistical analysis was performed using the Chi-square test(continuity correction Chi-square test or Fisher's exact test).Results(1)Among the 422 cases,262 cases(62.1%)showed no abnormalities with both detection techniques;160 cases had abnormalities,including 145 cases(34.4%)had consistent abnormal results and types of abnormalies with the two techniques;two cases(0.5%)had chromosomal translocations detected by karyotype analysis but not by SNP-array analysis;13 cases(3.1%)had no abnormalities detected by karyotype analysis but had abnormal SNP-array results.This study's overall detection rate of chromosomal abnormalities was 37.9%(160/422),with an additional detection rate of 4.7%(13/275)using SNP-array technology.(2)Among the 160 cases of chromosomal abnormalities,there were 140 cases of aneuploidy,18 cases of CNV,and two cases of chromosomal translocation.The overall detection rate of chromosomal abnormalities and the d

关 键 词：胎儿 鼻骨 介入性产前诊断 染色体核型 单核苷酸多态性微阵列芯片 

分 类 号：R71[医药卫生—妇产科学]