CAJ | 학술논문

胎儿先天性心脏畸形产前遗传学研究
태인선천성심장기형산전유전학연구
Prenatal genetic study of fetuses with congenital heart diseases

万方数据

中华医学遗传学杂志中華醫學遺傳學雜誌 중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年 2期 128-133 ,共6页

许争峰%曹荔%季修庆%杨驰%张菁菁%徐倩君%查文%杨吟秋%林远珊%陈春华%刘安%李璃%林影%易龙

허쟁봉%조려%계수경%양치%장정정%서천군%사문%양음추%림원산%진춘화%류안%리리%림영%역룡

先天性心脏畸形%产前诊断%遗传学%胎儿先天性心髒畸形%產前診斷%遺傳學%胎兒
선천성심장기형%산전진단%유전학%태인
congenital heart defect%prenatal diagnosis%genetics%fetus

目的评估胎儿先天性心脏病(congenital heart diseases,CHD)遗传学异常情况,为孕期管理和遗传咨询提供依据.方法对产前超声检查发现为先天性心脏畸形的胎儿共81例,采用绒毛活检/羊膜腔穿刺/脐静脉穿刺获取胎儿细胞,进行细胞培养染色体分析;对显带分析无染色体异常胎儿,采用短串联重复标记结合多重荧光定量PCR技术,检测其22q11.2区域微缺失和微重复情况,异常胎儿再用荧光原位杂交技术证实.结果 81例先天性心脏畸形胎儿,发现染色体异常34例,22q11.2微重复1例,总异常发现率为43.2%;合并心外畸形胎儿染色体异常率高于单纯心脏畸形胎儿(64.5%vs.28.0%).染色体异常中,18三体有19例,占染色体异常病例的54.3%.结论先天性心脏畸形的胎儿染色体异常率高,尤以18三体最为常见;如合并心外畸形,染色体异常概率明显增加;对显带分析染色体正常胎儿则需进行22q11.2区域微缺失和微重复检测.先天性心脏畸形胎儿的遗传学检测有助于孕期管理和遗传咨询.
목적 평고태인선천성심장병(congenital heart diseases,CHD)유전학이상정황,위잉기관리화유전자순제공의거.방법 대산전초성검사발현위선천성심장기형적태인공81례,채용융모활검/양막강천자/제정맥천자획취태인세포,진행세포배양염색체분석;대현대분석무염색체이상태인,채용단천련중복표기결합다중형광정량PCR기술,검측기22q11.2구역미결실화미중복정황,이상태인재용형광원위잡교기술증실.결과 81례선천성심장기형태인,발현염색체이상34례,22q11.2미중복1례,총이상발현솔위43.2%;합병심외기형태인염색체이상솔고우단순심장기형태인(64.5%vs.28.0%).염색체이상중,18삼체유19례,점염색체이상병례적54.3%.결론 선천성심장기형적태인염색체이상솔고,우이18삼체최위상견;여합병심외기형,염색체이상개솔명현증가;대현대분석염색체정상태인칙수진행22q11.2구역미결실화미중복검측.선천성심장기형태인적유전학검측유조우잉기관리화유전자순.
Objective To investigate the genetic abnormalities of fetuses with congenital heart diseases(CHD), and to provide guidance for the management of pregnancy and genetic counseling. Methods Eighty-one fetuses with CHD deteeted by fetal eehoeardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionie sampling. Then 22q11.2 deletion/duplication was detected by a competitive fluorescent multiplex short tandem repeat assay in 47 CHD fetuses without chromosomal abnormalities. With fluorescence in situ hybridization (FISH) using LSI dual color DNA probe, the deletion/duplication status was confirmed. Results Thirty-four of 81 CHD fetuses had chromosomal anomalies, and I of the 47 CHD fetuses without chromosomal anomalies had duplication at chromosome 22q11. The incidence of aneuploidy associated CHD was 43.2%. The rate of chromosomal anomalies is higher in the cases associated with extra-cardiac anomalies than in that with isolated CHD(64.5% versus 28.0%). In the 35 fetuses with chromosomal abnormalities, 19(54.3%) were trisomy 18. Conclusion Chromosomal abnormalities occurred in 43.2% of CHD cases and trisomy 18 is the most common aneuploidy. The likelihood of chromosomal anomaly increases when there is extraeardiac involvement. Testing for the 22ql 1.2 microdeletion/duplication is recommended in all CHD fetuses without chromosomal anomalies. It is important for the further management of pregnancy and genetic counseling.