Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.
Oh
Dong Chul
DC
Department of Obstetrics, Samsung Cheil Hospital Women's Healthcare Center, Sungkyunkwan University School of Medicine, 1-19 Mookjeung-dong, Choong-gu, Seoul 100-380, Korea.
Min
Jee Yeon
JY
Lee
Moon Hee
MH
Kim
Young Mi
YM
Park
So Yeon
SY
Won
Hea Sung
HS
Kim
In Kyu
IK
Lee
Young Ho
YH
Yoo
Shi Joon
SJ
Ryu
Hyun Mee
HM
D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004452:Echocardiography; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013771:Tetralogy of Fallot / Q000175:diagnosis* / Q000235:genetics