Promotion of Newborn Screening

This essay focuses on the concept of newborn screening test to determine the presence of genetic disorder in newborn babies. It discusses the advantages of implementing the screening test, the procedure of the test, and the need for newborn screening in Saudi Arabia. It also includes a comprehensive literature review and strategies for promoting the testing practice.

Running head: PROMOTION OF NEWBORN SCREENING
PROMOTION OF NEWBORN SCREENING
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Abstract
This essay will focus on the idea and concept of newborn screening test to determine
the presence of genetic disorder in newborn babies. The inherited genetic disorder included in
this test are mentioned in the essay with the focus on the advantages of implementing the
screening test. The newborn screening test procedure are explained with major highlight
given on the incidence or prevalence of genetic disorder in Saudi Arabia. A comprehensive
literature review was conducted stating the advantages of implementing the process of
newborn screening (NBS) test. The possible ways to overcome the barriers of newborn
screening test was highlighted and different intervention methods or approaches was
identified for early detection of any genetic disorder in the newborn baby with early diagnosis
approach.

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Table of Contents
Introduction................................................................................................................................3
Disorders included in NBS.........................................................................................................3
Newborn screening test procedure.............................................................................................4
Need of newborn screening test in Saudi Arabia.......................................................................5
Literature review........................................................................................................................6
Conclusion..................................................................................................................................7
References..................................................................................................................................8

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Introduction
Newborn screening test (NBS) is a testing practice conducted for every newborn in
order to detect any fatal or harmful disorders and to manage them effectively. It is important
to detect metabolic and congenital genetic disorders in the newborn and determine the
possible treatment and management approach to prevent mortality, disability and morbidity
related to the inherited disorders (Kwan et al., 2014). The newborn screening test includes
education, testing, evaluation, follow up, treatment, diagnosis and management. This testing
practice allows the parents and physicians to take the follow up early before the symptoms
develop and accordingly treat, intervene and manage the disease progression thus permitting
the newborn to lead a normal and healthy life (Berry, 2015). The primary objective is to
identify suitable promotion strategies to promote the concept of newborn screening for early
detection of any genetic disorders in the newborn baby. In this essay, a detail insight will be
provided on the method of newborn screening test stating advantages and disadvantages of
the approach, conducting a comprehensive literature review and the methods of promoting
this testing practice to deliver a holistic methodology for minimizing the hereditary metabolic
disorders associated with disabilities in the newborn baby (Botkin et al., 2015).
Disorders included in NBS
Newborn screening test involves screening for various genetic metabolic disorders such
as (Ombrone et al., 2016):
 Phenylketonuria (PKU)
 Galactosemia
 Congenital hypothyroidism
 Sickle cell disease
 Toxoplasmosis

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 Cystic fibrosis
 Severe combined immunodeficiency (SCID)
 Tyrosinemia and
 Congenital adrenal hyperplasia (CAH).
The early detection of any disorder identified in the newborn will help the physician
to understand and diagnose the child for a better life. The recent laboratory method
considered for newborn screening such as tandem mass spectrometry (MS/MS) has
increased the rate of evaluating any genetic disorder in the newborn, as the recent
laboratory approaches is much more sensitive, specific, comprehensive and reliable for
screening any disorders in the baby and further diagnosing the condition (Berry, 2015).
Newborn screening test procedure
Many infants are born with some serious medical complication that includes genetic
disorder or any other associated disorder, which can be inherited from their family history
(Ooi et al., 2015). Newborn screening test thus allows the physicians or professionals to
identify these conditions before it effects the life of the newborn baby and start the diagnosis
procedure. There are three different portions to newborn screening test, which includes
(Miller et al., 2014):
1. Blood Test- It is also referred as heel stick test where the baby’s’ heel is pricked with
needle in order to collect the blood sample of the newborn baby. The health
professionals create newborn screening card and sent it to the laboratory for further
analysis.
2. Hearing Screen- This step is performed to identify if there is any hearing loss in the
newborn baby. Two different test are included in this hearing screen test namely
Otoacoustic Emission (OAE) Test and Auditory Brain Stem response (ABR) Test.

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The test are used to evaluate the parts of baby’s ear and how they are responding to
the external auditory sound.
3. Pulse Oximetry Testing- It is a non-invasive test, which measures the level of oxygen
content in the blood. Pulse oximetry is used to determine the condition of critical
congenital heart disease (CCHD) where the child has low level of blood oxygen.
Pulse oximeter is used to conduct this test.
Need of newborn screening test in Saudi Arabia
An average of 500,000-800,000 babies are born in Saudi Arabia each year. Inherited
metabolic disorder, hemoglobinopathies, birth defects and neurogenic disorders are the
common few disorder prevalent among the population. In Saudi Arabia, the newborn
screening program just screen for maximum of four diseases thus lacking the entire coverage
of newborn screening test (Peterson et al., 2014). There is a slow progression in
implementing and developing the newborn screen test (genetic program) due to various
cultural, political and legal issues. This issue of establishing the genetic program In Saudi
Arabia an immediate action is required for developing effective newborn screening program
in order to evaluate any genetic disorders and provide different intervention strategy to
increase the implementation and usage of newborn screening test (Alfadhel et al., 2017).
Different campaigns and program should be conducted in different regions of Saudi Arabia in
order to educate the people to understand the importance of newborn screening test. The
government of Saudi Arabia should implement the updated and modern laboratory
approaches so that a comprehensive test can be performed including almost all-possible
inherited genetic disorder. The parents should be much more attentive and should make sure
that their child undergoes this test to make sure that the child is free from any such disorders
(Gaspar et al., 2014). The doctors and physicians should recommended the parents and

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educate them to be aware of the process and to be sure that their baby undergoes this
screening test.
Literature review
Alfadhel et al., (2017) in their research study focused on the issue to address the need
of implementing Newborn screening program (NBS) in Saudi Arabia in order to increase the
prevalence of screening genetic disorders. The researcher used a retrospective study to
determine the overall incidence of genetic disorders. This research study highlighted the
understanding and knowledge of newborn screening program with specific incidence from
the provided screened disorders. According to Verma & Puri (2015), 5.3% of the newborn
babies suffer from inherited genetic disorder until they are 25 years. The babies suffer from
various disorders such as chromosomal and autosomal recessive disorder and
hemoglobinopathies. The researcher highlighted the benefit of using newborn screening and
genetic screening test in order to understand and determine the disorders before it effects the
babies and to reduce the overall burden of metabolic and genetic disorder. Aqeel, (2017),
highlighted on the need of developing and adapting newborn screening program. The
researcher established a report stating the incidence of metabolic disorder as compared to the
incidence rate of other countries. The researcher highlighted the criteria for implementing
newborn screening test, which includes good education and legislative system for the people,
medical professionals, and effective combined infrastructure consisting of guidelines and
polices to support the establishment of newborn screening (NBS) test. Therrell & Padilla
(2018) identified the progress of newborn screening (NBS) test in order to improve the
child’s health condition. The researcher focused on the improvement of governmental
activities and policies to increase the prevalence of newborn screening test. They also
highlighted few approaches to implement a successful screening program such as effective
partnership of health providers and professionals with parents, industry stakeholders and

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policy makers to expand the knowledge of this screening test and to implement the latest
technique sand procedure to perform the newborn screening test.
Conclusion
In this essay, a detail focus was presented on the concept of Newborn Screening
(NBS) Test in order to determine any genetic disorder in the newborn baby. The newborn
screening test is conducted when the baby is 24-48 hours old to evaluate the presence of any
inherited metabolic disorder associated with any other types of disorder. Different types of
disorders were explained in this essay stating that approximately 6% of the babies are born
with any other type of inherited genetic disorder and have to deal with the issue for many
years. The advantages of the screening test was explained in the essay stating the requirement
to implement the process in Saudi Arabia as it is lacking behind many other gulf countries. A
comprehensive literature review was conducted and the importance of newborn screening test
was highlighted from various research study. Hence, it can be concluded that it is essential to
conduct the newborn screening test for the babies so that any relevant disorder can be
evaluated and diagnosed at the perfect time.

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References
Alfadhel, M., Al Othaim, A., Al Saif, S., Al Mutairi, F., Alsayed, M., Rahbeeni, Z., ... &
Aljohery, S. (2017). Expanded newborn screening program in Saudi Arabia:
incidence of screened disorders. Journal of paediatrics and child health, 53(6), 585-
591.
Al Aqeel, A. I. (2017). Expanded Newborn Screening Programme in Saudi Arabia: Are We
Ready?. Journal of paediatrics and child health, 53(12), 1242-1242.
Therrell Jr, B. L., & Padilla, C. D. (2018). Newborn screening in the developing countries.
Current opinion in pediatrics, 30(6), 734-739.
Kwan, A., Abraham, R. S., Currier, R., Brower, A., Andruszewski, K., Abbott, J. K., ... &
Bonilla, F. A. (2014). Newborn screening for severe combined immunodeficiency in
11 screening programs in the United States. Jama, 312(7), 729-738.
Ombrone, D., Giocaliere, E., Forni, G., Malvagia, S., & la Marca, G. (2016). Expanded
newborn screening by mass spectrometry: new tests, future perspectives. Mass
spectrometry reviews, 35(1), 71-84.
Berry, G. T. (2015). Disorders of galactose metabolism. In Rosenberg's Molecular and
Genetic Basis of Neurological and Psychiatric Disease (pp. 615-626). Academic
Press.
Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., ... &
Wilfond, B. S. (2015). Points to consider: ethical, legal, and psychosocial implications
of genetic testing in children and adolescents. The American Journal of Human
Genetics, 97(1), 6-21.
Ooi, C. Y., Castellani, C., Keenan, K., Avolio, J., Volpi, S., Boland, M., ... & van Wylick, R.
(2015). Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics,
135(6), e1377-e1385.

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Miller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., &
LaGrave, D. (2014). Genetic counselor review of genetic test orders in a reference
laboratory reduces unnecessary testing. American Journal of Medical Genetics Part
A, 164(5), 1094-1101.
Peterson, C., Ailes, E., Riehle-Colarusso, T., Oster, M. E., Olney, R. S., Cassell, C. H., ... &
Gilboa, S. M. (2014). Late detection of critical congenital heart disease among US
infants: estimation of the potential impact of proposed universal screening using pulse
oximetry. JAMA pediatrics, 168(4), 361-370.
Gaspar, H. B., Hammarström, L., Mahlaoui, N., Borte, M., & Borte, S. (2014). The case for
mandatory newborn screening for severe combined immunodeficiency (SCID).
Journal of clinical immunology, 34(4), 393-397.
Verma, I. C., & Puri, R. D. (2015, October). Global burden of genetic disease and the role of
genetic screening. In Seminars in Fetal and Neonatal Medicine (Vol. 20, No. 5, pp.
354-363). WB Saunders.