Congenital Heart Defects (CHD)- is a defect in the structure of the heart and great vessels which is

present at birth.

Indicates a vitamin or nutrition deficiency in mother’s during pregnancy and can exacerbate malnutrition

in infants and children once they are born.

A congenital heart defect (CHD) is a defect in the structure of the heart and the surrounding

great vessels. It is critical that CHD is detected early, as numerous studies have indicated that is common

for children with CHD to also suffer from malnutrition (Vaidyanathan , Nair, 2007). Greater attention is

needed towards infants in the dietary management, detection, and intervention of CHD so that normal

health growth may be restored (Venugopalan, Akinbami, 2001). Causes related to CHD include

“chromosome abnormalities, mendelian disorders, teratogenic exposures, and unknown etiologic

mechanisms” ( Boughman, Berg, 1987). According to the National Heart, Lung and Blood Index institute,

smoking during pregnancy has been linked to several congenital heart defects.

Currently they are several ways to measure whether or not infants have CHD. A recent

large-scale study out of the U.K. indicated that using pulse oximetry, an inexpensive oxygen

screening test, may outperform other CHD screening methods ( Ewer, Middleton, Furmston,

Bhoyar, Daniels, Thangaratinam, Deeks, Khan, 2011). Pulse oximetry is a non-invasive diagnostic

test that measures the percentage of hemoglobin that is saturated with oxygen. The percentage

indicates how much oxygen the blood is carrying compared to how much it could potentially carry.

Those with CHD generally have scores below 95 due to the heart’s inability to adequately pump

oxygen into the blood. Pulse oximetry works by attaching a small sensor onto an infant’s hand or

foot, which makes the test both inexpensive as well as portable.

Screening methods such as antenatal ultrasonography and echocardiography, although

quality detection methods, are cost intensive, have up to 5% false-positive rates and have failed to

detect numerous heart problems related to CHD( Knowles, Griebsch, Dezateux, Brown, Bull, and

Wren, 2005) . Until recently, researchers believed that pulse oximetry showed promise as an

alternative method to screen for CHD, however results were unclear as to how reliable pulse

oximetry was. The study carried out by researchers in the U.K. was the first large-scale study to

measure over 20,000 newborns followed by an additional screening a year later. By using the pulse

oximetry method, researchers were able to detect critical and major CHD cases. ( 75 and 49 %,

respectively). Critical CHD cases are those that responsible for death or require invasive

intervention within the first month while major CHD cases are those responsible for invasive

intervention within the first year. When combined with the traditional ultrasound as physical

exam, detection rates were found at 92%. False-positives were limited to 0.8% of infants studied.

In conclusion, using pulse oximetry screening method along with a traditional clinical

examination appears to be a more significant screening method than currently implemented

methods. Furthermore, due to its cost effectiveness, accuracy, and being non-invasive in nature,

this screening method has the potential to be implemented in a wide-variety of clinical settings.

Familial risks of congenital heart defect assessed in a population-based epidemiologic study

Dr. Boughman J.A., Berg, K.A., Astemborski J.A., Clark EB, Robert J. McCarter, Judith D. Rubin, Charlotte Ferencz, John M. Opitz, James F. Reynolds

Health Technol Assess. 2005 Nov;9(44):1-152, iii-iv.

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis.

Knowles R, Griebsch I, Dezateux C, Brown J, Bull C, Wren C.Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health, London, UK.

Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study

Original TextDr Andrew K Ewer MD a b  Lee J Middleton MSc c, Alexandra T Furmston BSc c, Abhay Bhoyar MD d, Jane P Daniels MSc c, Shakila Thangaratinam MRCOG e, Prof Jonathan J Deeks PhD f, Prof Khalid S Khan MSc e, on behalf of the PulseOx Study GroupThe Lancet, Early Online Publication, 5 August 2011

Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39Anne de-Wahl Granelli,  Margareta Wennergren, Kenneth Sandberg, Mats Mellander, Carina Bejlum, Leif Inganäs,  Monica Eriksson, Niklas Segerdahl,  Annelie Ågren,  Britt-Marie Ekman-Joelsson,  Jan Sunnegårdh,  Mario Verdicchio,  and Ingegerd Östman-SmithBMJ. 2009; 338: a3037. Published online 2009 January 8. doi:  10.1136/bmj.a3037