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 Abstract
Newborn screening is one of the primary tools to avoid
congenital abnormalities in the newborn. The screening
program in Dubai includes routine biochemical analyses
to identify the common congenital disorders like Galactosemia,
Congenital Hypothyroidism, Sickle Cell Anemia, Congenital
Adrenal Hyperplasia, Cystic Fibrosis etc. Tendem Mass
Spectrometry allows detection of more than 50 metabolic
disorders related to fatty acid, organic acid and amino
acids metabolism. Eastern Biotech & Life Sciences
conducts most comprehensive newborn screening which
includes the metabolite screening with Tendem Mass Spectrometry
and routine biochemical analyses since 2008. So far,
3,000 samples from the mixed population were analyzed
from the newborns, the result of the screening show
0.2% of the babies had G6PD deficiency, 0.03% of them
had Galactosemia, single Short Chain Hydroxyl Acyle-CoA
Dehydrogenase deficiency (SCHAD) and amino acid disorders.
This study provides an overview of the Newborn Screening
Program and also introduces the disorders that are not
commonly identified with the routine biochemical analyses.
The state of art technology, Tendem Mass Spectrometry
(MS/MS), which has already proved its potential to develop
expanded newborn screening, has provided Dubai with
yet another means to improve the health of its citizens
and prevent significant morbidity and mortality.
Introduction
Newborn screening is the process of testing newborn
babies for treatable genetic, endocrinologic metabolic
and hematologic diseases. These are also known as inborn
errors of metabolism (IEM), disorders which are caused
when the body is unable to break down certain naturally
produced chemicals, which then accumulate in the body
and turn toxic. This toxic build-up can lead to slow
physical development or brain damage and, in some cases,
even death. Most infants with these disorders show no
obvious signs, but the build-up can be rapid enough
for the condition to become irreversible within a few
days of birth.
Newborn screening began in South Carolina in the
mid-1960’s with testing for phenylketonuria
(PKU) only. Over the years, the
test panel has expanded with increased use of tandem
mass spectrometry (MS/MS) in newborn screening applications.
In the United Arab Emirates (UAE), the national neonatal
screening program started by screening for phenylketonuria
in January 1995. Since the Implementation of the screening
program until Dec 2005, 385,135 infants were screened
by MOH with the relative incidence of 1: 1963 for
congenital hypothyroidism, 1: 14,812 classic PKU,
0.06% for sickle disease and 0.9% for sickle cell
traits. Implementation of National screening program
including metabolic screening is under consideration
in Bahrain, Kuwait, Oman and other Middle East Countries.
Here, we, Eastern Biotech & Life Sciences, offer
Newborn Screening by using Tendem Mass Spectrometry
(MS/MS) and so far recorded the incidence of some
rare disorders besides the common ones among the residents
of UAE.
Discussion
After the introduction of phenylketonuria as national
neonatal screening program in January 1995 (MOH, 2006),
congenital hypothyroidism was introduced in January
1998 (MOH, 2006), sickle cell anemia in 2002 (MOH,
2006) and Congenital Adrenal Hyperplasia in 2005 (MOH,
2006)
Screening for newborns is still not mandatory for
each child born in UAE, but the government hospitals
like Al Wasl hospital and MOH, Abudhabi do the screening
for the babies born at their facilities
The private hospitals offer the screening for their
clients, though each hospitals has its own panel to
screen the newborns
This is woefully inadequate because most often these
disorders appear in babies with no family history
of disorders
Barrier for implementation of mandatory Newborn Screening
Program are as follows:
a. Cost of the screening and treatment
b. Test cannot be done at birth (birth has to be in
a hospital)
c. Insufficient sampling due to the lack of proper
training and education
d. Difficult to reach in different geographic location
e. Problems with recall and follow up of cases
Conclusions
A significant number of amino acid, fatty acid and
organic acid disorders exist in the mixed population
of UAE.
Due to lack of knowledge and facilities of Tendem
Mass Spectrometry many of these cases are undetected
which ultimately cause serious illness and in some
cases, death of the babies.
It is beneficial to check for these rare metabolic
disorders along with the routine biochemical analyses
as part of the Newborn Screening by using Tendem Mass
Spectrometry.
References
Newborn Screening, Kids Health, www.kidshealth.org
Dr. Hajer Al-Hosani and Dr. Mohammed Saleh El-Din,
National Screening Program for Women and Child Health,
Central Department of Maternal and Child Health, MOH,
UAE,2008
Mohammed S. Rashed. Newborn Screening in Saudi Arabia
Country Report, National Laboratory for Newborn Screening,
King Faisal Specialist Hospital and Research Centre,
2008
Mark Sharrard, Rodney Pollitt. Metabolic screening
in children: newborn screening for metabolic diseases
past, present and future, Paediatrics and Child Health,
17:7, 2007
Bridget Wilcken, M.B., Ch.B., Veronica Wiley, Ph.D.,
Judith Hammond, Ph.D., and Kevin Carpenter, Ph.D.
Screening Newborns for Inborn Errors of Metabolism
by Tendem Mass Spectrometry, New England Journal of
Medicine, 348: 23, 2003
Pediatrix Medical Groups, USA
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