摘要
目的通过心脏畸形胎儿产前诊断及临床预后评分评估为先天性心脏病胎儿遗传咨询及临床分析提供更多依据。方法收集2018年4月至2019年10月因胎儿心脏畸形来怀化市妇幼保健院产前诊断中心就诊的52例孕妇临床资料。通过产前诊断获得标本并行染色体核型及CMA检测。结果52例心脏畸形胎儿中染色体核型异常为13.46%(7/52),核型正常的胎儿中有5例检出拷贝数变异(copy number variation,CNV),检出率为9.6%(5/52)。40例染色体核型及微阵列分析均正常的胎儿中,按出生缺陷临床预后评分体系评分。其中0分Ⅰ级正常变异9例,均继续妊娠;1~3分Ⅱ级者共17例,继续妊娠16例;4~6分Ⅲ级者共11例,继续妊娠3例;7~9分Ⅳ级者3例,均引产。40例中继续妊娠28例。结论胎儿先天性心脏病与遗传因素相关,需行产前诊断,排除遗传因素后行临床预后评分评估,对临床分析及围产期管理,改善胎儿预后,提高我国出生人口质量起到重要的作用。
Objective Prenatal diagnosis of fetuses with congenital heart disease and clinical prognosis score evaluation of birth defects provide more basis for genetic counseling and clinical analysis。Methods The clinical data of 52 pregnant women with fetal congenital heart disease who came to the prenatal diagnosis center of our hospital from April 2018 to October 2019 were collected。Fetal specimens were obtained by means of interventional prenatal diagnosis and chromosome karyotype analysis and microarray analysis were performed on all fetuses。Results Chromosome karyotype abnormality in 52 fetuses with heart malformation was 13.46%(7/52),and copy number variation(CNV)was detected in 5 fetuses with normal karyotype,with a detection rate of 9.6%(5/52)。Among the 40 fetuses with normal karyotype and microarray analysis,the score was based on the clinical prognosis score system for birth defects.Among them,9 cases with 0 grade I normal mutation continued to be pregnant.There were 17 cases of grade II patients with 1~3 points and 16 cases of continued pregnancy.Grade III patients of grade 4~6 were 11 in total,with 3 cases of continued pregnancy.Grade IV patients were classified as 7~9,all of which induced labor。Pregnancy continued in 28 of the 40 cases。Conclusion Fetal congenital heart disease is closely related to chromosomal diseases,which plays an important role in prenatal diagnosis of fetal congenital heart disease and positive clinical prognostic score evaluation for those who continue to be pregnant,which plays an important role in clinical analysis,perinatal management,improvement of fetal prognosis and improvement of the quality of Chinese birth population。
作者
易凤梅
冯宗辉
谌燕
李敏
黄乙亿
张弦
Yi Fengmei;Feng Zonghui;Chen Yan;Li Min;Huang Yiyi;Zhang Xian(HuaihuaMaternal and Child Health Hospital,Huaihua 418000,China)
出处
《中国产前诊断杂志（电子版）》
2020年第1期33-36,共4页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
胎儿心脏畸形
产前诊断
临床预后分析
Fetal heart malformation
Prenatal diagnosis
Clinical prognostic analysis
