Prenatal genetic study of fetuses with congenital heart diseases / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 128-133, 2009.
Article
Dans Chinois
| WPRIM
| ID: wpr-287440
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the genetic abnormalities of fetuses with congenital heart diseases (CHD), and to provide guidance for the management of pregnancy and genetic counseling.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Trisomie
/
Imagerie diagnostique
/
Échographie prénatale
/
Aberrations des chromosomes
/
Âge gestationnel
/
Classification
/
Développement foetal
/
Génétique
/
Cardiopathies congénitales
/
Amniocentèse
Type d'étude:
Etude diagnostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2009
Type:
Article
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