摘要
目的探讨染色体G显带和微阵列分析(chromosomal microarray a-nalysis)在唇腭裂发育异常胎儿的结果关系。方法回顾性研究200例孕妇资料的产前诊断、胎儿染色体G显带和微阵列分析的关系,这些孕妇资料均为产前超声筛查发现胎儿期存在唇腭裂。唇裂根据嘴唇裂开类型不同分为3组,分别是唇裂(上唇部不同程度的裂开)、腭裂(腭裂存在软组织畸形,可伴骨组织缺损和畸形)和唇裂合并腭裂(整个上唇直至鼻底都会裂以上唇裂伴有牙槽嵴裂和腭裂为特征的先天性畸形),同时,又根据结构或者超声指标异常方面分为单纯组和合并组。将这200例病例进行微阵列分析和染色体G显带分析,通过用x^2检验比较唇腭裂在胎儿期发育异常与染色体核型之间的关系。结果(1)染色体检测出异常的有67例,异常率为33.5%(67/200)。数目异常57例占85.07%(57/67),21-三体28例占41.79%(28/67),18-三体18例占26.87%(18/67),13-三体8例占11.94%(8/67),性染色体异常3例占4.48%(3/67);结构异常10例占14.93%(10/67),在结构异常中的平衡易位2例占2.99%(2/67),不平衡易位8例占11.94%(8/67)。(2)唇裂85例,染色异常19例,异常比例为22.35%(19/85)。腭裂36例,染色体异常15例,异常比例占41.67%(15/36)。唇裂合并腭裂79例,染色体异常33例,异常比例占41.77%(33/79),多组x^2检验的两两比较,差异无统计学意义(x^2=2.211、2.864、2.658,P=0.105、0.110、0.108)。单纯组97例中检出胎儿染色体异常26例占26.80%(26/97),合并组103例中检出胎儿染色体异常41例占39.81%(41/103),两组差异有统计学意义(x^2=4.115,P=0.045)。结论染色体的异常与胎儿唇裂、腭裂及唇裂合并腭裂的关系非常密切。唇裂、腭裂及唇裂合并腭裂三者差异不大,如果超声检查合并了其他结构异常或者超声软指标的问题,建议进行介入性的产前诊断检查。
Objective To investigate the correlations between chromosomal G-banding and microarray analysis in fetuses with cleft lip and palate dysplasia.Methods The correlations between prenatal diagnosis,G-banding of fetal chromosomes and microarray analysis were retrospectively studied in 200 pregnant women.Prenatal ultrasound screening was applied to find cleft lip and palate in the fetus.According to the types of cleft lip,the patients were divided into three groups,cleft lip(upper lip cleft in different degrees),cleft palate(cleft palate with soft tissue deformity,bone tissue defect and deformity)and cleft lip with cleft palate(cleft lip with alveolar ridge and cleft palate are congenital deformities characterized by cleft lip and cleft palate from the whole upper lip to the base of nose).At the same time,the patients were divided into simple group and combined group according to the abnormal structure and ultrasound index.We performed microarray analysis and chromosome G-banding analysis in 200 cases,and compared the correlation between cleft lip and palate dysplasia and chromosome karyotype by chi-square test.Results Sixty-seven cases of chromosome abnormalities were detected,accounting for 33.5%(67/200).The rates of cleft lip abnormality,cleft palate abnormality and cleft lip with cleft palate abnormality were 29.23%(19/65),21.73%(15/66)and 47.83%(33/69),respectively.There was no significant difference between the two groups in Chi-square test(P>0.05).The rate of chromosome abnormality was 21.65%(21/97)in the simple group and 39.81%(41/103)in the combined group.The difference between the two groups was statistically significant(P<0.05).Three cases of Wolf-Hirschhorn syndrome were found in the combined group.Conclusion Chromosome abnormalities are closely related to cleft lip and palate.The difference among cleft lip,cleft palate and cleft lip with cleft palate is not significant.Detailed ultrasound examination is recommended.Interventional prenatal diagnosis is recommended if other structural abnormalities or soft ultrasound indicators are combined.
作者
陈科谚
余蕙君
张瑚
何海洪
崔胜金
柯娟玉
陈泽衍
刘欣桐
王静
韦唯
周义文
CHEN Ke-yan;YU Hui-jun;ZHANG Hu;HE Hai-hong;CUI Sheng-jin;KE Juan-yu;CHEN Ze-yan;LIU Xin-tong;WANG Jin;WEI Wei;ZHOU Yi-wen(Clinical Laboratory Medicine Center,Shenzhen Hospital of Southern Medical University,Shenzhen 518110,Guangdong,China)
出处
《广东医学》
CAS
2019年第20期2880-2885,共6页
Guangdong Medical Journal
基金
深圳市宝安区科技创新局基金资助项目(编号:2016CX300)
关键词
胎儿唇腭裂
染色体
超声
产前诊断
微阵列
fetal cleft lip and palate
chromosome
ultrasound
prenatal diagnosis
microarray
