Universal screening for extracardiac abnormalities in neonates with congenital heart disease. 2009

Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
Department of Pediatrics, Cardiology, Medical University of South Carolina, Charleston, SC 29425-9150, USA. gonzalej@musc.edu

Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which patients underwent cranial ultrasonogram (CUS), abdominal ultrasonogram (AUS), and/or genetic studies (GS) as well as their results. There was a high prevalence of EGA in each group by CUS (32% to 42%), AUS (32% to 69%), and GS (10% to 60%). There was considerable variability in the proportion within each group that underwent screening tests, and the consistency of screening often was not congruent with the likelihood of abnormal results. Approximately 50% of our patients had >/=1 EGA identified, resulting in a cost-yield ratio of $4,508/patient with EGA. Screening for EGA at our institution is not uniform and is often at odds with the prevalence of such patients. Given the high prevalence of EGA, we advocate for a universal screening program for neonates with CHD using cranial/abdominal ultrasonography and genetic testing.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D005821 Genetic Techniques Chromosomal, biochemical, intracellular, and other methods used in the study of genetics. Genetic Technic,Genetic Technics,Genetic Technique,Technic, Genetic,Technics, Genetic,Technique, Genetic,Techniques, Genetic
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D013022 South Carolina State bounded on the north by North Carolina, on the east and south by the Atlantic Ocean, and on the west by Georgia.
D015203 Reproducibility of Results The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results. Reliability and Validity,Reliability of Result,Reproducibility Of Result,Reproducibility of Finding,Validity of Result,Validity of Results,Face Validity,Reliability (Epidemiology),Reliability of Results,Reproducibility of Findings,Test-Retest Reliability,Validity (Epidemiology),Finding Reproducibilities,Finding Reproducibility,Of Result, Reproducibility,Of Results, Reproducibility,Reliabilities, Test-Retest,Reliability, Test-Retest,Result Reliabilities,Result Reliability,Result Validities,Result Validity,Result, Reproducibility Of,Results, Reproducibility Of,Test Retest Reliability,Validity and Reliability,Validity, Face

Related Publications

Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
April 1975, Pediatrics,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
February 1972, The American journal of roentgenology, radium therapy, and nuclear medicine,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
February 2008, Archives of disease in childhood,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
August 1962, The Journal of the Kentucky Medical Association,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
January 2024, Pediatric cardiology,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
March 1978, European journal of cardiology,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
December 2014, Pediatric cardiology,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
January 2013, Congenital heart disease,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
October 1979, British heart journal,
Javier H Gonzalez, and Girish S Shirali, and Andrew M Atz, and Sarah N Taylor, and Geoffrey A Forbus, and Sinai C Zyblewski, and Anthony M Hlavacek
February 2018, Journal of perinatal medicine,
Copied contents to your clipboard!