| 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。 |
| 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 |
| DOI： |
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| 基金项目: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) |
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| A Retrospective Study of 308 Cases of Prenatal Diagnosis of Cleft Lip and Palate |
| HE Qianyun;YANG Yuanxiang;CHEN Min;LI Zhihua |
| (The Third Affiliated Hospital of Guangzhou Medical University) |
| Abstract: |
| Objective: To explore the relationship between fetal cleft lip and palate and the chromosome abnormalities,meanwhile provide the data support for clinical consultation and prognosis evaluation of the disease. Methods:We made retrospective analysis on 308 pregnant women who were diagnosed with cleft lip/cleft palate/cleft lip and palate by ultrasound in our hospital from january 2008 to december 2016. The incidence of ultrasonographic phenotype and chromosomal abnormalities of different types of cleft lip and palate were analyzed. Results:(1)The ultrasonographic results showed that there are 258 cases( 83. 77%) belong to non-syndromic cleft lip and palate in 308 patients,while the remaining 50 cases( 16. 23%) are syndromic cleft lip and palate. Among these patients,the number of cleft lip,cleft lip with cleft palate and cleft palate were 40 cases( 12. 99%),266 cases( 86. 36%)and 2 cases( 0. 65%) respectively.(2)137 cases( 44. 48%) agreed to prenatal diagnosis and we found chromosome abnormalities in 22 cases( 16. 06%). There were 12 cases( 52. 17%) of chromosomal abnormalities in 23 cases of syndromic cleft lip and palate,including 8 cases( 66. 67%) of 13-trisomy,2 cases( 16. 67%) of 18-trisomy and 2 cases of triploid( 16. 67%). In the other 114 cases of non-syndromic cleft lip and palate,we found 10 cases of chromosomal abnormalities( 8. 77%),including 1 case of 18-trisomy,1 case of 21-trisomy,1 case of chromosome marker,4 cases of genetic syndrome such as microdeletion of gene deletion,3 cases of intracranial inversion and other chromosome polymorphisms. The incidence of chromosome abnormalities detected by CMA was 16. 16%( 16/99),while the chromosome abnormality detection rate was 15. 79%( 6/38).(3)Followed up to204 patients,186 patients selected induction of labor,18 patients accepted surgery intervention after fetal born.Conclusions: The incidence of chromosomal abnormalities in fetus with cleft lip and palate was higher and prenatal diagnosis is recommended for all types of the disease. CMA can dectect copy number variation( CNV) except for the aneuploidy. For the cleft lip and palate of the fetus,it is recommended to give priority to a CGH for prenatal diagnosis. |
| Key words: Cleftlipandpalate Prenataldiagnosis Chromosome Chromosomalmicroarryanalysis Retrospectivestudy |
