224例单核苷酸多态微阵列芯片检出拷贝数变异胎儿的产前诊断结果  

Single nucleotide polymorphism microarray identified copy number variations in 224 fetuses with normal karyotypes

作　　者：许玲[1] 王挺[1] 黎凤珍[1] 卢建[1] 张畅斌[1] 黄华梅[1] Xu Ling;Wang Ting;Li Fengzhen;Lu Jian;Zhang Changbin;Huang Huamei(Medical Genetic Centre,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2020年第4期73-78,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨单核苷酸多态微阵列芯片(single nucleotide polymophis microarray,SNP-array)技术在产前诊断中的应用。方法回顾性选择2015年1月至2017年12月在广东省妇幼保健院就诊的224例核型分析未见异常但SNP-array检出拷贝数变异(copy number variations,CNVs)的单胎妊娠孕妇,随访妊娠结局。分析产前诊断指征、超声异常与CNVs的关系。结果224例孕妇中,最多见的超声异常是胎儿侧脑室增宽和颈项透明层增厚,分别占14.7%(33/224)和12.1%(27/224)。224例CNVs中,意义不明确的CNVs占34.8%(78/224),致病性CNVs占33.0%(74/224),杂合性缺失占17.0%(38/224),可能致病CNVs占12.9%(29/224),良性CNVs占2.2%(5/224)。杂合性缺失病例中致病性杂合性缺失有3例,占7.9%(3/38)。74例致病性CNVs中,以17号、X、16号染色体受累最多,分别占18.9%(14/74)、17.6%(13/74)和14.9%(11/74),其中有5例涉及2条染色体异常,占6.8%(5/74);产前诊断指征以肾脏异常、侧脑室增宽和颈项透明层增厚为主,分别占18.9%(14/74)、18.9%(14/74)和16.2%(12/74)。224例孕妇中79例终止妊娠,其中3例于脐带血或羊膜腔穿刺术后胎死宫内终止妊娠;51例失访;94例活产分娩,但其中5例新生儿异常(膈疝3例,耳聋和淋巴管瘤各1例)。结论SNP-array技术能检出核型分析检测不出的亚显微结构异常,结合传统的细胞遗传学检测,能更好地避免异常患儿的出生。Objective To investigate the performance of single nucleotide polymorphism microarray(SNP-array)in prenatal diagnosis.Methods This study retrospectively analyzed 224 cases of singleton pregnancies with normal chromosomal karyotypes but copy number variations(CNVs)detected by SNP-array in Guangdong Women and Children Hospital from January 2015 to December 2017.Pregnancy outcomes of these cases were followed up.Relationships of prenatal diagnostic indications and ultrasound abnormalities with CNVs were analyzed.Results Among the 224 cases,the most common ultrasound abnormalities were fetal cerebral ventriculomegaly and increased nuchal translucency,accounting for 14.7%(33/224)and 12.1%(27/224),respectively.Variants of uncertain significance,pathogenic CNVs,loss of heterozygosity,potentially pathogenic and benign CNVs were 34.8%(78/224),33.0%(74/224),17.0%(38/224),12.9%(29/224)and 2.2%(5/224),respectively.Three out of the 38 cases of loss of heterozygosity were pathogenic(7.9%).Among the 74 cases with pathogenic CNVs,chromosomes 17,X and 16 were the most involved,accounting for 18.9%(14/74),17.6%(13/74)and 14.9%(11/74),respectively;five of which[6.8%(5/74)]showed abnormalities in two chromosomes;and renal abnormalities(18.9%,14/74),fetal cerebral ventriculomegaly(18.9%,14/74)and increased nuchal translucency(16.2%,12/74)were the main prenatal diagnostic indications.Among the 224 pregnancies,79 were terminated and three of them terminated due to intrauterine fetal death after cordocentesis or amniocentesis;51 lost in follow up;94 newborns were born and 5 of them with abnormality(3 of diaphragmatic hernia,one of deafness and one of lymphangioma).Conclusion SNP-array technology is able to detect submicroscopic structural abnormalities that cannot be found by karyotype analysis.Combined with traditional cytogenetic detection,SNP-array can better avoid the birth of abnormal neonates.

关 键 词：多态性 单核苷酸 微阵列分析 DNA拷贝数变异 超声检查 产前 

分 类 号：R714.56[医药卫生—妇产科学]