PMID- 20848279
OWN - NLM
STAT- MEDLINE
DCOM- 20110324
LR  - 20211020
IS  - 1432-1971 (Electronic)
IS  - 0172-0643 (Linking)
VI  - 31
IP  - 8
DP  - 2010 Nov
TI  - Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with 
      heart defects detected by prenatal echocardiography.
PG  - 1146-50
LID - 10.1007/s00246-010-9763-0 [doi]
AB  - Congenital heart disease (CHD) is the most common birth defect and the leading 
      cause of mortality in the first year of life. In fetuses with a heart defect, 
      chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion 
      is one of the most recognizable chromosomal abnormalities causing CHD. The 
      frequency of this abnormality varies in nonselected populations. This study aimed 
      to investigate the incidence of the 22q11.2 deletion and other chromosomal 
      alterations in a Brazilian sample of fetuses with structural cardiac anomalies 
      detected by fetal echocardiography. In a prospective study, 68 fetuses with a 
      heart defect were evaluated. Prenatal detection of cardiac abnormalities led to 
      identification of aneuploidy or structural chromosomal anomaly in 35.3% of these 
      cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 
      deletion. The heart defects most frequently associated with chromosomal 
      abnormalities were atrioventricular septal defect (AVSD), ventricular septal 
      defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the 
      most common chromosomal abnormalities. The study results support the strong 
      association of chromosome alterations and cardiac malformation, especially in 
      AVSD and VSD, for which a chromosome investigation is indicated. In fetuses with 
      an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to 
      investigate a 22q11.2 deletion is not indicated.
FAU - Bellucco, Fernanda Teixeira da Silva
AU  - Bellucco FT
AD  - Departamento de Morfologia e Genetica, Universidade Federal de Sao Paulo, Sao 
      Paulo, Brazil.
FAU - Belangero, Sintia Iole Nogueira
AU  - Belangero SI
FAU - Farah, Leila Montenegro Silveira
AU  - Farah LM
FAU - Machado, Maria Virginia Lima
AU  - Machado MV
FAU - Cruz, Adriano Pastor
AU  - Cruz AP
FAU - Lopes, Lilian Maria
AU  - Lopes LM
FAU - Lopes, Marco Antonio Borges
AU  - Lopes MA
FAU - Zugaib, Marcelo
AU  - Zugaib M
FAU - Cernach, Mirlene Cecilia
AU  - Cernach MC
FAU - Melaragno, Maria Isabel
AU  - Melaragno MI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20100917
PL  - United States
TA  - Pediatr Cardiol
JT  - Pediatric cardiology
JID - 8003849
SB  - IM
MH  - Aneuploidy
MH  - Brazil
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - *Echocardiography
MH  - Female
MH  - Fetal Heart/*diagnostic imaging
MH  - Heart Defects, Congenital/*diagnostic imaging/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Prospective Studies
MH  - *Ultrasonography, Prenatal
EDAT- 2010/09/18 06:00
MHDA- 2011/03/25 06:00
CRDT- 2010/09/18 06:00
PHST- 2009/06/17 00:00 [received]
PHST- 2010/07/26 00:00 [accepted]
PHST- 2010/09/18 06:00 [entrez]
PHST- 2010/09/18 06:00 [pubmed]
PHST- 2011/03/25 06:00 [medline]
AID - 10.1007/s00246-010-9763-0 [doi]
PST - ppublish
SO  - Pediatr Cardiol. 2010 Nov;31(8):1146-50. doi: 10.1007/s00246-010-9763-0. Epub 
      2010 Sep 17.