产前诊断唇腭裂308例回顾性研究

发布时间：2018-01-21 14:25

本文关键词： 唇腭裂产前诊断染色体染色体基因芯片分析回顾性研究　出处：《实用妇产科杂志》2017年09期 　论文类型：期刊论文

【摘要】：目的:探讨胎儿唇腭裂与染色体异常的关系,为该疾病的临床咨询及预后评估提供依据。方法:回顾性分析我院2008年1月至2016年12月所有超声诊断为唇裂/腭裂/唇腭裂的308例孕妇的产前诊断情况,比较不同类型唇腭裂的超声表型特征及染色体异常的发生率。结果:(1)超声诊断结果显示,在308例唇腭裂胎儿中非综合征型唇腭裂258例(83.77%),综合征型唇腭裂50例(16.23%),其中单纯唇裂40例(12.99%),唇裂合并腭裂266例(86.36%),单纯腭裂2例(0.65%)。(2)同意进行产前诊断137例(44.48%),染色体异常共22例(16.06%),其中23例综合征型唇腭裂中发现染色体异常共12例(52.17%),分别为13-三体8例(66.67%),18-三体2例(16.67%),三倍体2例(16.67%);而在114例非综合征型唇腭裂中发现染色体异常10例(8.77%),分别为18-三体1例,21-三体1例,标记染色体1例,发现基因微缺失微重复等遗传综合征4例(B超检查均无任何软指标及除唇腭裂外的其他结构异常),臂间倒位等染色体多态性3例。染色体基因芯片分析(CMA)检测的染色体异常检出率为16.16%(16/99),染色体核型分析异常检出率为15.79%(6/38)。(3)随访到204例患者,186例患者选择引产,18例患者出生后进行手术干预治疗。结论:唇腭裂胎儿染色体异常发生率较高,建议对所有类型唇腭裂均进行产前诊断;CMA检测可以发现除非整倍体外的拷贝数变异,建议对唇腭裂胎儿优选基因芯片进行产前诊断。
[Abstract]:Objective: to investigate the relationship between fetal cleft lip and palate and chromosomal abnormalities. To provide the basis for clinical consultation and prognosis evaluation of the disease. Methods:. The prenatal diagnosis of all pregnant women with cleft lip / cleft palate / cleft lip / palate diagnosed by ultrasonography from January 2008 to December 2016 was analyzed retrospectively. The characteristics of ultrasonic phenotype and the incidence of chromosomal abnormalities in different types of cleft lip and palate were compared. Among 308 cases of fetal cleft lip and palate with non-syndromic cleft lip and palate, 258 cases had cleft lip and palate without syndrome (83.77), 50 cases of syndromic cleft lip and palate (50 cases with cleft lip and palate 16.23 cases), and 40 cases of simple cleft lip and palate (40 cases). There were 266 cases of cleft lip with cleft palate and 86.36 cases of cleft palate, and 2 cases of simple cleft palate were 0.65 and 0.65% respectively.) 137 cases (44.48) were accepted for prenatal diagnosis. There were 22 cases of chromosomal abnormalities, of which 12 cases were found to have chromosomal abnormalities in 23 cases of syndromic cleft lip and palate, which were 13 trisomy 8 cases and 66.67%, respectively. 18- trisomy (n = 2) and triploid (n = 2) (n = 16.67); In 114 cases of non-syndromic cleft lip and palate, 10 cases with chromosomal abnormalities were found to have chromosomal abnormalities, including 1 case of 18-trisomy, 1 case of trisomy 21 and 1 case of marker chromosome. Four cases of gene microdeletion and microduplication were found (no soft markers and other structural abnormalities except cleft lip and palate) were detected by B-mode ultrasonography. The detection rate of chromosomal abnormalities detected by chromosome microarray analysis (CMA) was 16.16 / 99). The positive rate of chromosomal karyotype analysis was 15.79% ~ 6 / 38 ~ (3)) 204 patients were followed up and 186 patients were selected to induce labor. Conclusion: the incidence of chromosomal abnormalities in the fetus with cleft lip and palate is high. It is recommended that all types of cleft lip and palate should be diagnosed before birth. CMA detection can detect the prenatal diagnosis of cleft lip and palate fetal selective gene chip unless the copy number variation in vitro is doubled.
【作者单位】：广州医科大学附属第三医院;
【基金】：教育部科技发展中心2013年度高等学校博士学科点专研科学基金(编号:20134423120004) 广州市科技和信息化局科技计划项目科技惠民专项(编号:2014YZ-00176) 广州市卫生局医药卫生科技项目西医类一般引导项目(编号:20131A011156)
【分类号】：R714.53
【正文快照】： 据统计我国每年唇腭裂患儿的出生率占先天性缺陷儿的9%~14%,是颅面部最常见的先天性异常,居围生儿出生缺陷发生率的第4位[1]。该病会影响患者的发音、听力、呼吸、吞咽功能及面容,给个人和家庭造成沉重的经济及精神负担。唇腭裂的分型标准可根据其是否合并其他脏器畸形分为综

【相似文献】