PMID- 25494910
OWN - NLM
STAT- MEDLINE
DCOM- 20160407
LR  - 20181203
IS  - 1747-0803 (Electronic)
IS  - 1747-079X (Print)
IS  - 1747-079X (Linking)
VI  - 10
IP  - 3
DP  - 2015 May-Jun
TI  - Current Practice and Utility of Chromosome Microarray Analysis in Infants 
      Undergoing Cardiac Surgery.
PG  - E131-8
LID - 10.1111/chd.12241 [doi]
AB  - OBJECTIVE: Traditionally, karyotype and fluorescence in situ hybridization (FISH) 
      were used for cytogenetic testing of infants with congenital heart disease (CHD) 
      who underwent cardiac surgery at our institution. Recently, chromosome microarray 
      analysis (CMA) has been performed in lieu of the traditional tests. A 
      standardized approach to cytogenetic testing does not exist in this population. 
      The purpose of this study was to assess the utility of CMA based on our current 
      ordering practice. DESIGN: We reviewed the records of all infants (<1 year old) 
      who underwent cardiac surgery at our institution from January 2010 to June 2013. 
      Data included results of all cytogenetic testing performed. Diagnostic yield was 
      calculated as the percentage of significant abnormal results obtained by each 
      test modality. Patients were grouped by classification of CHD. RESULTS: Two 
      hundred seventy-five (51%) of 535 infants who underwent cardiac surgery had 
      cytogenetic testing. Of those tested, 154 (56%) had multiple tests performed and 
      at least 18% were redundant or overlapping. The utilization of CMA has increased 
      each year since its implementation. The diagnostic yield for karyotype, FISH and 
      CMA was 10%, 12%, and 14%, respectively. CMA yield was significantly higher in 
      patients with septal defects (33%, P = .01) compared with all other CHD classes. 
      CMA detected abnormalities of unknown clinical significance in 13% of infants 
      tested. CONCLUSIONS: In our center, redundant cytogenetic testing is frequently 
      performed in infants undergoing cardiac surgery. The utilization of CMA has 
      increased over time and abnormalities of unknown clinical significance are 
      detected in an important subset of patients. A screening algorithm that 
      risk-stratifies based on classification of CHD and clinical suspicion may provide 
      a practical, data-driven approach to genetic testing in this population and limit 
      unnecessary resource utilization.
CI  - (c) 2014 Wiley Periodicals, Inc.
FAU - Buckley, Jason R
AU  - Buckley JR
AD  - Department of Pediatrics, Division of Cardiology, Medical University of South 
      Carolina, Charleston, SC, USA.
FAU - Kavarana, Minoo N
AU  - Kavarana MN
AD  - Department of Pediatrics, Division of Cardiology, Medical University of South 
      Carolina, Charleston, SC, USA.
FAU - Chowdhury, Shahryar M
AU  - Chowdhury SM
AD  - Department of Pediatrics, Division of Cardiology, Medical University of South 
      Carolina, Charleston, SC, USA.
FAU - Scheurer, Mark A
AU  - Scheurer MA
AD  - Department of Pediatrics, Division of Cardiology, Medical University of South 
      Carolina, Charleston, SC, USA.
LA  - eng
GR  - T32 HL007710/HL/NHLBI NIH HHS/United States
PT  - Clinical Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20141214
PL  - United States
TA  - Congenit Heart Dis
JT  - Congenital heart disease
JID - 101256510
SB  - IM
MH  - Cardiac Surgical Procedures
MH  - *Chromosome Aberrations
MH  - Female
MH  - Genetic Testing
MH  - Heart Defects, Congenital/*genetics/surgery
MH  - Heart Diseases/*congenital/*genetics/surgery
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Microarray Analysis/statistics & numerical data
MH  - Retrospective Studies
PMC - PMC4466217
MID - NIHMS642113
OTO - NOTNLM
OT  - Chromosome Microarray Analysis
OT  - Congenital Heart Disease
OT  - Genetic Testing
COIS- Conflict of Interest Statement: The authors have no financial, personal or 
      industrial conflicts of interest to disclose.
EDAT- 2014/12/17 06:00
MHDA- 2016/04/08 06:00
PMCR- 2016/05/01
CRDT- 2014/12/16 06:00
PHST- 2014/11/09 00:00 [accepted]
PHST- 2014/12/16 06:00 [entrez]
PHST- 2014/12/17 06:00 [pubmed]
PHST- 2016/04/08 06:00 [medline]
PHST- 2016/05/01 00:00 [pmc-release]
AID - 10.1111/chd.12241 [doi]
PST - ppublish
SO  - Congenit Heart Dis. 2015 May-Jun;10(3):E131-8. doi: 10.1111/chd.12241. Epub 2014 
      Dec 14.