Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit

Author(s):  
Aleksandra Miletic ◽  
Jelena Ruml Stojanovic ◽  
Vojislav Parezanovic ◽  
Snezana Rsovac ◽  
Danijela Drakulic ◽  
...  
2016 ◽  
Vol 170 (12) ◽  
pp. 3090-3097 ◽  
Author(s):  
Rebecca C. Ahrens-Nicklas ◽  
Shama Khan ◽  
Jennifer Garbarini ◽  
Stacy Woyciechowski ◽  
Lisa D'Alessandro ◽  
...  

2017 ◽  
Vol 37 (10) ◽  
pp. 1117-1123 ◽  
Author(s):  
K Van Naarden Braun ◽  
R Grazel ◽  
R Koppel ◽  
S Lakshminrusimha ◽  
J Lohr ◽  
...  

2012 ◽  
Vol 97 (10) ◽  
pp. 861-865 ◽  
Author(s):  
Rachel L Knowles ◽  
Catherine Bull ◽  
Christopher Wren ◽  
Carol Dezateux

BackgroundTechnological advances in surgery, intensive care and medical support have led to substantial decrease in mortality for children with congenital heart defects (CHDs) over the last 50 years.MethodsUsing routinely-collected mortality and population data for England and Wales from 1959 to 2009, the authors investigated age, period and birth cohort trends in child mortality attributable to CHDs.ResultsThe total number of deaths with CHDs at all ages between 1959 and 2009 was 61 903 (33 929 (55%) males). Absolute numbers of CHD-related deaths in children (under age 15 years) fell from 1460 in 1959 to 154 in 2009. Infants (aged under 1 year) comprised over 60% of all deaths due to CHD during the 5-year period 1959–1963, but this fell to 22% by 2004–2008. Age-standardised death rates have declined for both sexes but, despite narrowing sex differences, males continue to have higher death rates. Successive birth cohorts have experienced improved death rates in the first year of life; however, declining mortality across all age-groups has only been observed for birth cohorts originating after 1989. Poisson regression modelling predicts continuing generational decline in mortality.ConclusionsDeath rates attributable to CHDs have fallen dramatically with advances in paediatric cardiac surgery and intensive care, largely due to decreased mortality in infants aged under 1 year. Initially, mortality in later childhood rose as infant deaths fell, suggesting death was delayed beyond infancy. Children born within the last 20 years experienced lower mortality throughout childhood.


Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1244
Author(s):  
Benjamin M. Helm ◽  
Benjamin J. Landis ◽  
Stephanie M. Ware

The use of clinical genetics evaluations and testing for infants with congenital heart defects (CHDs) is subject to practice variation. This single-institution cross-sectional study of all inpatient infants with severe CHDs evaluated 440 patients using a cardiovascular genetics service (2014–2019). In total, 376 (85.5%) had chromosome microarray (CMA), of which 55 (14.6%) were diagnostic in syndromic (N = 35) or isolated (N = 20) presentations. Genetic diagnoses were made in all CHD classes. Diagnostic yield was higher in syndromic appearing infants, but geneticists’ dysmorphology exams lacked complete sensitivity and 6.5% of isolated CHD cases had diagnostic CMA. Interestingly, diagnostic results (15.8%) in left ventricular outflow tract obstruction (LVOTO) defects occurred most often in patients with isolated CHD. Geneticists’ evaluations were particularly important for second-tier molecular testing (10.5% test-specific yield), bringing the overall genetic testing yield to 17%. We assess these results in the context of previous studies. Cumulative evidence provides a rationale for comprehensive, standardized genetic evaluation in infants with severe CHDs regardless of lesion or extracardiac anomalies because genetic diagnoses that impact care are easily missed. These findings support routine CMA testing in infants with severe CHDs and underscore the importance of copy-number analysis with newer testing strategies such as exome and genome sequencing.


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