FISH for 22q11.2 Deletion Not Cost-Effective for Infants with Congenital Heart Disease with Microarray

Pediatric Cardiology

Volumn 36, Issue 3, 2015, Pages 531-536

  Geddes, Gabrielle C ^a,b   Butterly, Mark ^a   Sajan, Imran ^a  

^a ADVOCATE CHILDREN S HOSPITAL   (United States)

^b Children's Hospital of Wisconsin   (United States)

Author keywords

22q11.2 deletion; Chromosomal microarray; Congenital heart disease; Cytogenetic testing; Genetic testing

Indexed keywords

AORTA ARCH INTERRUPTION; AORTA COARCTATION; ARTERIAL TRUNK; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CHROMOSOME G BAND; CONGENITAL HEART DISEASE; COST EFFECTIVENESS ANALYSIS; CYTOGENETICS; DOWN SYNDROME; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MICROARRAY ANALYSIS; MOSAICISM; PATENT DUCTUS ARTERIOSUS; PULMONARY VALVE ATRESIA; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 21; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; DNA MICROARRAY; ECONOMICS; GENETICS; NEWBORN; PROCEDURES;

CYTOGENETIC ANALYSIS; DIGEORGE SYNDROME; DOWN SYNDROME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES;

EID: 84923820374     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-014-1045-9     Document Type: Article

References (8)

1. Baker K, Sanchez-de-Toledo J, Munoz R et al (2012) Critical congenital heart disease-utility of routine screening for chromosomal and other extracardiac malformations. Congenit Heart Dis 7(2):145–150
2. Connor JA, Hinton RB et al (2013) Genetic testing practices in infants with congenital heart disease. Congenit Heart Dis 9(2):158–67
3. Huang JB, Liang J (2012) Congenital Heart Disease-Selected Aspects. Molecular Mechanisms of Congenital Heart Disease, C5:121–140. ISBN:978-953-307-472-6
4. Lu XY, Phung MT, Shaw CA et al (2008) Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 122(6):1310–1318
5. Manning M, Hudgins L (2010) Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 12(11):742–745
6. Miller DT, Adam MP, Aradhya S et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749–764
7. Richards AA, Garg V (2010) Genetics of congenital heart disease. Curr Cardiol Rev 6:91–97
8. Ware SM, Jefferies JL (2012) New genetic insights into congenital heart disease. J Clin Exp Cardiol S8:003