CAJ | 학술논문

目的对产前诊断中胎儿染色体核型异常与超声确诊的先天性心血管畸形的发生进行相关研究.方法 2011年1月至2013年9月在本院进行产前诊断的胎儿进行羊水或脐带血染色体核型检查,在孕中期胎儿超声心动图检查胎儿心血管发育状况,对核型与B超结果进行分析.结果 4482例行产前羊水或脐带血核型分析的胎儿中,核型异常173例(数目异常91例.结构异常74例,嵌合体8例),其中20例超声心动图检查发现心血管畸形(21-三体7例,18-三体8例,13-三体3例,X单体2例),心血管畸形发生率11.56％(20/173).染色体异常胎儿先天性心血管畸形合并心外畸形16例(21-三体5例,18-三体7例,13-三体3例,X单体1例),占所有合并心外畸形胎儿的64.00％(16/25).仅有先天性心血管畸形的胎儿染色体异常率8.51％(4/47).染色体核型未见异常的胎儿心血管畸形发生率1.87％(52/4379),其中9例合并心外畸形.结论心血管畸形在染色体核型异常胎儿中发生率高,是染色体异常综合征的常见体征.染色体异常是复杂型先天性心血管畸形或合并其他心外畸形的主要病因.
목적 대산전진단중태인염색체핵형이상여초성학진적선천성심혈관기형적발생진행상관연구.방법 2011년1월지2013년9월재본원진행산전진단적태인진행양수혹제대혈염색체핵형검사,재잉중기태인초성심동도검사태인심혈관발육상황,대핵형여B초결과진행분석.결과 4482례행산전양수혹제대혈핵형분석적태인중,핵형이상173례(수목이상91례.결구이상74례,감합체8례),기중20례초성심동도검사발현심혈관기형(21-삼체7례,18-삼체8례,13-삼체3례,X단체2례),심혈관기형발생솔11.56％(20/173).염색체이상태인선천성심혈관기형합병심외기형16례(21-삼체5례,18-삼체7례,13-삼체3례,X단체1례),점소유합병심외기형태인적64.00％(16/25).부유선천성심혈관기형적태인염색체이상솔8.51％(4/47).염색체핵형미견이상적태인심혈관기형발생솔1.87％(52/4379),기중9례합병심외기형.결론 심혈관기형재염색체핵형이상태인중발생솔고,시염색체이상종합정적상견체정.염색체이상시복잡형선천성심혈관기형혹합병기타심외기형적주요병인.
Objective To investigate the distribution of congenital cardiovascular malformations in fetuses with chromosomal abnormalities.Method Congenital cardiovascular malformations of fetuses were diagnosed by prenatal ultrasonic cardiography from Jan 2011 to Sep 2013,and whose chromosomal karotype were tested by amniocentesis or cordocentesis.The association between chromosomal karyotypes and distribution of congenital cardiovascular malformations was analyzed.Result In 173 Fetuses with chromosomal abnormalities,20(11.56％) cases had congenital cardiovascular malformations,including seven 21-trisomies,eight 18-trisomies,three 13-trisomies and two 45,X.64％ (16/25) fetuses with congenital cardiovascular malformations accompanied with other malformations had chromosomal abnormalities.Only 1.87％ (52/4379) fetuses with normal karotype had congenital cardiovascular malformations.Conclusion Chromosomal abnormality is the most reason of complicate CHD.Chromosomal karotype test should be detected in fetus with complicate CHD.