CAJ | 학술논문

目的：通过对超声确诊为先天畸形儿的染色体核型进行分析，总结染色体异常与畸形部位和畸形数目的关系，为产前诊断提供依据。方法：2009年1月—2013年12月在广西壮族自治区妇幼保健院行羊水穿刺或脐带血穿刺，产前诊断指征为先天畸形儿的576例胎儿进行染色体核型分析，探讨先天畸形儿与染色体异常的关系及比例。结果：细胞培养成功551例（成功率95.66%）。染色体异常90例（16.33%），其中常染色体异常63例（占染色体异常的70.00%），性染色体异常25例（占染色体异常的27.78%），三倍体1例，标记染色体1例。染色体异常的畸形儿中，主要为心脏畸形31例（34.44%），皮肤水肿30例（33.33%），面颈部异常21例（23.33%），脑部结构异常20例（22.22%），消化系统畸形11例（12.22%）。结论：先天畸形儿的染色体异常发生率极高；对超声提示为先天性畸形儿者应行介入性产前诊断，以避免染色体异常患儿的出生。
목적：통과대초성학진위선천기형인적염색체핵형진행분석，총결염색체이상여기형부위화기형수목적관계，위산전진단제공의거。방법：2009년1월—2013년12월재엄서장족자치구부유보건원행양수천자혹제대혈천자，산전진단지정위선천기형인적576례태인진행염색체핵형분석，탐토선천기형인여염색체이상적관계급비례。결과：세포배양성공551례（성공솔95.66%）。염색체이상90례（16.33%），기중상염색체이상63례（점염색체이상적70.00%），성염색체이상25례（점염색체이상적27.78%），삼배체1례，표기염색체1례。염색체이상적기형인중，주요위심장기형31례（34.44%），피부수종30례（33.33%），면경부이상21례（23.33%），뇌부결구이상20례（22.22%），소화계통기형11례（12.22%）。결론：선천기형인적염색체이상발생솔겁고；대초성제시위선천성기형인자응행개입성산전진단，이피면염색체이상환인적출생。
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.