标题：染色体微阵列分析在胎儿唇腭裂畸形中的临床应用

      作者：孟卓 1，熊礼宽 2，3，林小影 1，2，王辉林 2，3    （1.深圳市宝安区妇幼保健院超声科，广东 深圳 518000；2.深圳市出生缺陷研究重点实验室，广东 深圳 518040；3.深圳市宝安区妇幼保健院中心实验室，广东 深圳 518000）

      卷次： 2018年29卷3期

      【摘要】 目的 探讨染色体微阵列分析技术(CMA)在产前诊断胎儿唇腭裂畸形(CLP)中的临床应用价值。方法 研究对象为2014年7月至2016年12月期间在深圳市宝安区妇幼保健院产前超声诊断的19例CLP胎儿和2例产前超声漏诊的单一腭裂患儿，其中12例单纯性CLP，9例综合征性CLP。 21例样本中羊水13例，脐带血1例，引产胎儿组织 2例，新生儿外周血 5例。采用染色体核型技术和CMA技术对样本进行检测，获得基因组拷贝数变异(CNVs)，对比CMA技术和传统染色体核型技术对唇腭裂患者检出异常结果的敏感性，评估不同类型唇腭裂患者携带CNVs的差异。结果 CMA结果中33.3% (7/21)为CNVs，染色体核型结果中9.5% (2/21)为染色体异常，差异无统计学意义(P>0.05)。CMA结果中单纯性CLP检出CNVs率为25.0% (3/12)，综合征性CLP检出CNVs率为44.4%(4/9)，差异无统计学意义(P>0.05)。结论 不管是综合征性的唇腭裂，还是单纯性的唇腭裂，使用CMA技术进行分析均较传统染色体核型技术能提高异常检出率，但尚需进一步证实CMA在产前超声诊断唇腭裂胎儿时的临床应用价值。
      【关键词】 产前诊断；超声；胎儿；唇腭裂；染色体微阵列分析技术；基因组拷贝数变异
      【中图分类号】 R714.53 【文献标识码】 A 【文章编号】 1003—6350（2018）03—0336—03

Clinical value of chromosomal microarray analysis in etiological study of fetuses with congenital cleft lip andpalate.
MENG Zhuo 1, XIONG Li-kuan 2,3, LIN Xiao-ying 1,2, WANG Hui-lin 2,3. 1. Department of Ultrasound, ShenzhenBao'an Maternal and Child Healthcare Hospital, Shenzhen 518000, Guangdong, CHINA; 2. Shenzhen Municipal KeyLaboratory of Birth Defects Screening and Engineering, Shenzhen 518040, Guangdong, CHINA; 3. Central Laboratory,Shenzhen Bao'an Maternal and Child Healthcare Hospital, Shenzhen 518000, Guangdong, CHINA
【Abstract】 Objective To discuss the clinical value of chromosomal microarray analysis (CMA) in the diagno-sis of fetal cleft lip and palate (CLP). Methods A total 21 CLP cases in Shenzhen Bao’an Maternal and Child Health-care Hospital from July 2014 to December 2016 were enrolled, in which 19 were diagnosed by prenatal ultrasound and 2were missed by prenatal ultrasound. There were 12 non-syndromic cases and 9 syndromic cases. Among the patients, 13amniotic fluid samples, 1 cord blood sample, 2 fetal organic tissue samples and 5 venous blood samples were collected.Chromosome karyotype and CMA technology were used to detect and analyze the samples. Genome copy-number varia-tions (CNVs) were obtained, and the sensitivity of the two methods for detecting cleft lip and palate was compared. Thedifferences in abnormal CNVs in different types of CLP patients were evaluated. Results CMA results showed 33.3%(7/21) of CNVs, and karyotype results showed 9.5% (2/21) of chromosomal abnormalities, with no statistically signifi-cant difference (P>0.05). Of the CMA results, the detection rate of CNVs in non-syndromic CLP was 25.0% (3/12),and the rate of CNVs in syndromic CLP was 44.4% (4/9), but the difference was not statistically significant (P>0.05).Conclusion Compared with the traditional karyotype analysis, CMA technique has slightly higher sensitivity for detec-tion of CLP, but Further studies are needed to confirm the value of CMA.
      【Key words】 Prenatal diagnosis; Ultrasound; Fetal; Cleft lip and palate; Chromosomal microarray analysis(CMA); Copy-number variations (CNVs)·论 著·doi:10.3969/j.issn.1003-6350.2018.03.011基金项目：广东省深圳市卫生计生系统科研项目(编号：201401089)；广东省深圳市三名工程项目(出生缺陷防治研究与转化团队)