摘要
目的探讨染色体核型分析与全基因组拷贝数变异测序(CNV-Seq)技术在高龄孕妇产前诊断中联合应用的意义。方法对2020年1月至2022年12月该院收治的723例高龄孕妇的羊水细胞染色体核型分析、CNV-Seq检测结果进行回顾性分析。结果723例高龄孕妇中检出染色体异常共29例,异常检出率为4.0%。723例高龄孕妇中检出核型异常21例,异常检出率为2.9%,其中染色体非整倍体13例,包括21-三体7例,18-三体1例,性染色体非整倍体5例;染色体嵌合3例,包括性染色体嵌合2例,常染色体嵌合1例;染色体结构异常5例,包括染色体倒位3例,染色体易位2例;检出CNV-Seq异常24例,异常检出率为3.3%,其中染色体非整倍体13例,包括21-三体7例,18-三体1例,性染色体非整倍体5例;染色体嵌合3例,包括性染色体嵌合2例,常染色体嵌合1例;致病性染色体拷贝数变异8例,包括染色体微重复1例,染色体微缺失7例。其中染色体非整倍体异常中染色体核型分析和CNV-Seq检测结果一致。结论染色体核型分析联合CNV-Seq检测可提高染色体异常检出率,两种方法各自有独特的优势,可以相互验证,互补不足,染色体核型分析可比较直观地检测出染色体结构变异,而CNV-Seq可检测出染色体微缺失、微重复。
Objective To explore the significance of the combined application of chromosome karyotype analysis and whole genome copy number variation sequencing(CNV-Seq)in the prenatal diagnosis of amniotic fluid in elderly pregnant women.Methods The chromosome karyotype and CNV-Seq detection results of amniotic fluid cells of 723 elderly pregnant women admitted to Shanghai Changning District Maternal and Child Health Hospital from January 2020 to December 2022 were analyzed retrospectively.Results Chromosome abnormalities were detected in 29 of 723 elderly pregnant women,with an abnormal detection rate of 4.0%.Among 723 elderly pregnant women,21 cases were found with abnormal karyotype,the abnormal detection rate was 2.9%,including 13 cases of chromosome aneuploidy,including 7 cases of trisomy 21,1 case of trisomy 18 and 5 cases of sex chromosome aneuploidy.There were 3 cases of chromosome mosaicism,including 2 cases of sex chromosome mosaicism and 1 case of autosomal mosaicism.There were 5 cases of chromosome structure abnormality,including 3 cases of chromosome inversion and 2 cases of chromosome translocation.CNV-Seq abnormalities were detected in 24 cases,with an abnormal detection rate of 3.3%,including 13 cases of chromosome aneuploidy,including 7 cases of trisomy 21,1 case of trisomy 18 and 5 cases of sex chromosome aneuploidy.There were 3 cases of chromosome mosaicism,including 2 cases of sex chromosome mosaicism and 1 case of autosomal mosaicism.There were 8 cases of pathogenic chromosome copy number variation,including 1 case of chromosome microduplication and 7 cases of chromosome microdeletion.The results of chromosome karyotype analysis and CNV-Seq detection in chromosome aneuploidy were consistent.Conclusion Chromosomal karyotype analysis combined with CNV-Seq detection can improve the detection rate of chromosomal abnormalities.Each method has unique advantages and can mutually verify complementary deficiencies.Chromosomal karyotype analysis can intuitively detect chromosomal structural variations,while CNV-S
作者
马海霞
冯丽云
郭苑青
何丽梅
MA Haixia;FENG Liyun;GUO Yuanqing;HE Limei(Department of Clinical Laboratory,Shanghai Changning District Maternal and Child Health Hospital,Shanghai 200051,China;Screening Center,Shanghai Changning District Maternal and Child Health Hospital,Shanghai 200051,China)
出处
《检验医学与临床》
2024年第4期507-510,共4页
Laboratory Medicine and Clinic
关键词
染色体核型分析
全基因组拷贝数变异测序
高龄
孕妇
产前诊断
chromosome karyotype analysis
whole genome copy number variation sequencing
elderly
pregnant woman
prenatal diagnosis
