国际妇产科学杂志Issue(6)：683-685,3.
576例先天畸形儿的染色体核型分析
Karyotype Analysis of 576 Cases of Congenital Malformations
摘要
Abstract
Objective:By means of ultrasound diagnosis of congenital oaf fetal karyotype analysis ,we summarizes the relationship between the chromosomal abnormalities and deformed parts and number of deformity , providing the basis for prenatal diagnosis. Methods:From January 2009 to December 2013 in our hospital an amniocentest or cord blood puncture were performed byindications for prenatal diagnosis of congenital malformations ,576 cases of chromosome karyotype analysis of fetus, were investigate the relationship between the congenital oaf and chromosomal abnormalities. Results:The success rate of cell culture successfully are 551 cases (95.66%);chromosomal abnormalities in 90 cases (16.33%),with 63 cases often dyed anomaly of chromosome abnormality (70.00%);sex chromosome abnormality 25 cases(27.78%of chromosomal abnormality);triploid in 1 case;marker chromosomes in 1 case. Freak of chromosome abnormalities, the mainly types are cardiac malformation 31 cases (34.44%),skin edema 30 cases (33.33%),abnormal face and neck 21 cases (23.33%),abnormal brain structure 20 cases(22.22%),and the digestive system malformation 11 cases(12.22%). Conclusions:Congenital oaf has high incidence of chromosomal abnormalities. For ultrasound tips for congenital oaf , prenatal diagnosis ivtervention should be made to avoid the chromosome abnormalities in children with birth.关键词
先天畸形/染色体畸变/产前诊断/超声检查,产前Key words
Congenital abnormalities/Chromosome aberrations/Prenatal diagnosis/Ultrasonography, prenatal引用本文复制引用
黄红倩,费冬梅,欧阳鲁平,刘天盛,孙惟佳,郑陈光..576例先天畸形儿的染色体核型分析[J].国际妇产科学杂志,2014,(6):683-685,3.基金项目
国家科技支撑计划（2012BAI09B00，2012BAI09B04）；广西科学研究与技术开发计划项目 （）
