莆田市胎儿唇腭裂发病情况及临床遗传学分析  

Morbidity and clinical genetic analysis of fetal cleft lip and palate in Putian City

作　　者：张艳[1] 曾丽娜[1] 林荔[1] 董娴[1] 王丽芳 林堃 许青[2] 李励军[2] Zhang Yan;Zeng Lina;Lin Li;Dong Xian;Wang Lifang;Lin Kun;Xu Qing;Li Lijun(Center of Prenatal Diagnosis,the Affiliated Hospital of Putian University,Putian,Fujian 351100,China;Department of Gynaecology and Obstetrics,the Affiliated Hospital of Putian University,Putian,Fujian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,福建莆田351100 [2]莆田学院附属医院妇产科,福建莆田351100

出　　处：《齐齐哈尔医学院学报》2023年第16期1556-1561,共6页Journal of Qiqihar Medical University

基　　金：福建省中青年教师教育科研项目(JAT200536);莆田学院2019年校内科研项目(2019099)。

摘　　要：目的 回顾福建省莆田市近五年的胎儿唇腭裂发病情况,探讨胎儿唇腭裂与染色体异常的关系,为该病的临床遗传咨询及预后评估提供依据。方法 回顾性分析2017年1月—2021年12月本院超声确诊为唇和/腭裂胎儿的288例孕妇的产前诊断情况,总结不同类型胎儿唇和/腭裂的染色体异常的发生情况。结果 在288例唇腭裂胎儿中,有单纯唇裂51例(17.71%),唇腭裂184例(63.89%),单纯腭裂53例(18.4%)。知情选择行产前诊断87例(30.21%),其中染色体核型异常10例,基因芯片异常9例,全外显子异常2例。妊娠结局均有随访,其中159例选择引产,129例选择继续妊娠。结论 胎儿唇腭裂与染色体异常关系密切,建议对诊断胎儿唇腭裂的孕妇进行介入性产前诊断,染色体微阵列分析或全外显子检测可增加胎儿染色体异常检出率。Objective To explore the relationship between fetal cleft lip and palate and chromosome abnormality,so as to provide basis for clinical genetic counseling and prognosis evaluation of the disease.Methods The prenatal diagnosis of 288 pregnant women diagnosed with cleft lip and/or palate by ultrasound in our hospital from January 2017 to December 2021 was retrospectively analyzed,and the occurrence of chromosomal abnormalities of different types of fetal cleft lip and/or palate was summarized.Results Among the 288 cases of cleft lip and palate,51 cases(17.71%)were cleft lip,184 cases(63.89%)were cleft lip and palate,and 53 cases(18.4%)were cleft palate.Informed choices to prenatal diagnosis of 87 cases(30.21%),including 10 cases of abnormal chromosome karyotype,9 cases of abnormal gene chip,and abnormal whole exome in 2 cases.Pregnancy outcomes were followed up,among which 159 cases chose to terminate the pregnancy and 129 cases chose to continue the pregnancy.Conclusions Fetal cleft lip and palate closely associated with chromosomal abnormalities,it is recommended to apply interventional prenatal diagnosis in pregnant women receiving fetal cleft lip and palate diagnosis,chromosomal microarray analysis or whole-exome detection can increase the detection rate of fetal chromosomal abnormalities.

关 键 词：唇腭裂 产前诊断 染色体核型分析 染色体微阵列分析 全外显子检测 

分 类 号：R715.5[医药卫生—妇产科学]