胎儿侧脑室增宽的产前诊断策略及妊娠结局  

Prenatal diagnosis strategy and pregnancy outcome of fetuses with ventriculomegaly

作　　者：饶慧华 刘艳秋[1] 袁慧珍[1] 邹永毅 黄淑晖[1] 杨必成[1] RAO Huihua;LIU Yanqiu;YUAN Huizhen;ZOU Yongyi;HUANG Shuhui;YANG Bicheng(Center of Medical Genetics,Jiangxi Maternal and Child Health Hospital,Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control,Nanchang,Jiangxi 330006,China)

机构地区：[1]江西省妇幼保健院医学遗传中心/江西省出生缺陷防控重点实验室,江西南昌330006

出　　处：《中国优生与遗传杂志》2023年第12期2495-2500,共6页Chinese Journal of Birth Health & Heredity

基　　金：江西省卫生健康委普通科技计划(202211162);江西省中医药管理局普通科技计划(2021B407)。

摘　　要：目的通过对不同类型的侧脑室增宽(VM)胎儿进行核型分析和染色体微阵列分析(CMA),并对其妊娠结局进行随访,探讨产前胎儿侧脑室增宽的遗传诊断策略。方法根据首次超声发现的胎儿VM将192例孕妇分为单侧VM组(106例)与双侧VM组(86例)、轻度VM组(152例)与中-重度VM组(40例)、孤立性VM组(111例)与非孤立性VM组(81例),比较核型分析和CMA在不同类型VM胎儿中的异常检出率并进行统计分析。结果192例VM胎儿的染色体异常检出率为15.1%(29/192),其中核型分析检出异常8例,CMA检出异常26例,两种方法染色体异常检出率差别具有统计学意义(P<0.05),特别是在单侧VM组、轻度VM组和非孤立性VM组中;单侧VM组与双侧VM组、轻度VM组与中-重度VM组、孤立性VM组与非孤立性VM组之间染色体异常检出率差别无统计学意义(P>0.05);有26例VM胎儿检出拷贝数变异(CNVs),其中15例正常分娩,12例终止妊娠,1例出生12h内死亡,1例生长发育迟缓。结论当产前检查发现胎儿侧脑室增宽时,应进一步行胎儿遗传学检测。无论何种类型的VM胎儿都建议进行CMA检测,核型分析联合CMA检测可明显提高染色体异常的检出率。Objective To explore the prenatal diagnosis strategy of different types of ventriculomegaly(VM)fetuses by karyotyping and chromosomal microarray analysis(CMA),and follow up their pregnancy outcome.Methods According to the first ultrasound finding of fetal VM,192 pregnant women were divided into unilateral VM group(106 cases)and bilateral VM group(86 cases),mild VM group(152 cases)and moderate-severe VM group(40 cases),isolated VM group(111 cases)and non-isolated VM group(81 cases).The karyotype analysis and CMA abnormality detection rate of different types of VM fetuses were compared,and the statistical analysis was made.Results The chromosome abnormality detection rate of 192 VM fetuses was 15.1%(29/192),among which 8 cases were detected by karyotype analysis and 26 cases by CMA.The difference between the two methods was statistically significant(P<0.05),especially in unilateral VM group,mild VM group and non-isolated VM group.There was no significant difference in the detection rate of chromosome abnormality between unilateral VM group and bilateral VM group,mild VM group and moderate-severe VM group,isolated VM group and non-isolated VM group(P>0.05).CNVs were detected in 26 VM fetuses,of which 15 cases were delivered normally,12 cases were terminated,1 case died within 12 hours after birth,and 1 case had developmental delays.Conclusion When fetal VM is detected through prenatal testing,further genetic testing should be performed.CMA detection is recommended in all types of VM fetuses.Karyotype analysis combined with CMA detection can significantly improve the detection rate of chromosomal abnormalities.

关 键 词：胎儿侧脑室增宽 产前诊断 染色体微阵列 

分 类 号：R714.5[医药卫生—妇产科学]