CCHD Screening in Newborns

Megan Reitzel
Scientific paper
Biology 1615-Greg Wahlert
 Megan Reitzel
Scientific Paper
Biology 1615-Greg Wahlert

CCHD Screening in Newborns.

There is a growing number of children with critical congenital heart defects

(CCHD) which go undiagnosed until it is too late for the child. The objective of this

experiment was to estimate the number of infants with CCHDs in the United States

whom could be detected and not undiagnosed, if there was a universal newborn CCHD

screening. Newborn screening for CCHD has been implemented in many hospitals

however there is uncertainty about the number of children with CCHD that might be

detected if there was a universal implement of newborn CCHD screening in the United

States.

A study done by Dr. Aile had developed a stimulation model based on estimates

of birth prevalence, prenatal diagnoses, late detection, and sensitivity of newborns with

CCHD through the use of a pulse oximetry (it tests the oxygen saturation in the blood)

to find the true positives and false negatives cases of primary and secondary CCHD

screening. They combined COA (coarctation of the aorta) and IAA (Interrupted aortic

arch) to one category and all other CCHD into another category, named multiple CCHD.

They only included children under the age of one whom were diagnosed. The study only

included live-born infants and those without chromosomal abnormalities. Prenatal

diagnoses were most common for hypoplastic left heart syndrome (HLHS), while late

detection was most common for COA/IAA. It was estimated that 5,965 infants are born

alive with CCHD, annually in the United States; however, TOF, COA/IAA, d-TAG, and

HLHS accounted for seventy-five percent of the cases of CCHD. After using a pulse

oximetry, they would detect 875 infants with CCHD with 15 percent of those being false

negatives. The pulse oximetry has the greatest benefit in detecting CCHD in case of

TAPVR, and COA/IAA with a detection rate as high as twenty to thirty percent.

In the secondary study assuming low prenatal detection the estimated number of

true positives was 1105 and 1020 false negatives would result with a pulse oximeter. In

high prenatal detection 740 true positives and 785 false negatives would result. which is

almost fifty percent of CCHD cases would be misdiagnosed.

The estimated number of infants with CCHD that could be detected annually in

the United States is 900; however, because of high birth prevalence another 900 infant

cases of CCHD could be missed using a pulse oximetry. In the first study. In the second

study with low birth prevalence (19% VS 41%) the difference in infants with

undiagnosed CCHD at birth goes down by timely diagnoses. Meaning, through this

model 900 infants per year with CCHD are likely to be detected through a universal

CCHD screening in the united states; however, there is an equal number that would get

false negatives leaving the general practitioner to not solely rely on the screening of

CCHD.

With the results of this study it shows that while using a pulse oximetry it could

prevent children going undiagnosed with CCHD, there is still a long way to go to find a

universal test for children that could have CCHD that has more true-positives then
equaling the false-negatives. This also shows that each test can get different results

depending on prenatal detection. Using this information, it may be possible to further

research a universal test that could potentially lead to higher detection rate for CCHD

with not as many false-negatives. For the time being while using a pulse oximetry will

help General practitioners detect CCHD they cannot rely on it solely.

 Bibliography

Ailes, E. C., Gilboa, S. M., Honein, M. A., & Oster, M. E. (2015, May 01). Estimated

Number of Infants Detected and Missed by Critical Congenital Heart Defect

Screening. Retrieved March 28, 2017, from

http://pediatrics.aappublications.org/content/early/2015/05/06/peds.2014-3662

Original study

http://pediatrics.aappublications.org/content/early/2015/05/06/peds.2014-3662