[Prenatal genetic study of fetuses with congenital heart diseases].
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 detected by fetal echocardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionic 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 1 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.


CONCLUSIONS
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 extracardiac involvement. Testing for the 22q11.2 microdeletion/duplication is recommended in all CHD fetuses without chromosomal anomalies. It is important for the further management of pregnancy and genetic counseling.
Xu
Zheng-feng
ZF
Nanjing Maternal and Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu, 210004 People's Republic of China.
Cao
Li
L
Ji
Xiu-qing
XQ
Yang
Chi
C
Zhang
Jing-jing
JJ
Xu
Qian-jun
QJ
Zha
Wen
W
Yang
Yin-qiu
YQ
Lin
Yuan-shan
YS
Chen
Chun-hua
CH
Liu
An
A
Li
Li
L
Lin
Ying
Y
Yi
Long
L
D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D002869:Chromosome Aberrations / Q000139:chemically induced / Q000145:classification; D005260:Female; D047109:Fetal Development / Q000235:genetics*; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D014314:Trisomy / Q000503:physiopathology; D016216:Ultrasonography, Prenatal