[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.
Nanjing Maternal and Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu, 210004 People's Republic of China.
Zheng-feng
ZF
Xu
Li
L
Cao
Xiu-qing
XQ
Ji
Chi
C
Yang
Jing-jing
JJ
Zhang
Qian-jun
QJ
Xu
Wen
W
Zha
Yin-qiu
YQ
Yang
Yuan-shan
YS
Lin
Chun-hua
CH
Chen
An
A
Liu
Li
L
Li
Ying
Y
Lin
Long
L
Yi
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