31/05/2021
Newborn Screening
Newborn screening (NBS) which is an essential Public Health Program and now an
integral part of Neonatal care, is a process of testing all babies soon after their birth for
certain disorders or conditions which are not apparent at birth, but can be life threatening or
affect the normal development of the child.
In the NBS program all the babies are tested, irrespective of whether they have the
disorder or not. “Catch them Early” aims to identify early before significant morbidities
sets in.
Screening is a process of filtration. It separates the newborn infants into two groups, one
who may have the given disorder or condition, the other who do not have it. If the screening
test results are positive for a given disorder or disease, it should be followed by a
confirmatory diagnostic test. If the diagnostic test confirms the case, then the specific
treatment has to be implemented.
Importance of Screening
Newborn Screening is important as it helps to identify babies with serious medical
condition, before appearance of the symptoms and thus aids in early medical intervention
and corrective treatment. Most babies with these conditions if identified at birth and treated
early are able to grow up healthy with normal development.
As per recent data 140 million children are born every year around the world. Of these 5
million die in the first month of life in the developing countries. 4 million children have
congenital problems, 25-30% of these have IEMs.
Newborn screening will be useful to prevent disability and death by early intervention,
follow-up and genetic counselling.
Though screening is a cost-intensive exercise, the benefits far exceed the costs as it helps
in reducing the morbidity of the disease.
Seven Components of Newborn Screening
Education:Healthcare Professionals, parents and policy makers.
Screening: Collection activities, Specimen delivery, Laboratory testing and Result
reporting.
Diagnosis: Interpretation of results & reporting.
Conveying: To doctor & parents, Counselling.
Early Follow-up:Repeat test if positive & confirm.
Management:Medical management, Long term follow-up, Specimen management.
Evaluation:Program quality assurance, outcome & cost effectiveness.
Core and Expanded Newborn Screening
The term 'core' panel of disorders indicates the minimum set of disorders for which the
screening should be advocated at a national level. Since all countries chose the set to be
initiated in their country based on the epidemiologic prevalence and resources, the panel
of disorders chosen around the world is not uniform. The first criterion for inclusion of a
disorder for screening is that the disease should be of magnitude to qualify to be a
significant public health problem for e.g Congenital Hypothyroidism.
With the availability of multi-analyte testing by tandem mass spectroscopy (MS/MS) the
term expanded new born screening emerged. The modality of the sample collection is the
same as for core set i.e, dried blood spot on a filter paper, as for the core set of disorders.
The simultaneous screening of multiple analytes from the same drop of blood by MS/MS
paved the way for expanded newborn screening. The introduction of MS/MS has led to the
expansion of disorders that could be screened.
Worldwide status
After Prof. Robert Guthrie conceived the concept in 1960 in USA and the first metabolic
disorder that was tested was Phenylketonuria, the development of dried blood spot test
facilitated mass screening of babies for this disease and PKU testing became mandatory
in all the states of USA. Later on, more tests were added to this screening program. Since
2006, in US about 29 conditions have been identified as core panel for universal NBS as a
public health program.
While nationally managed Newborn screening (NBS) program do not exist in either USAor
Canada for that matter, there are state, provincial and territorial NBS programs which are
well established similar to national programs in other countries. The success of blood spot
newborn screening in the USAhas led to early screening efforts in the parts of Asia Pacific
region from the mid-1960s onwards. Nearly 4 million newborns are screened by filter
paper blood spots tests, and almost 12,500 infants with various congenital disorders are
diagnosed and treated each year.
Although individual IEM is rare, the collective incidence of IEMs is high and varies
dramatically in different countries and regions (Campeau et al., 2008). For example, the
incidence of IEM was reported to be 1/666 in Saudi Arabia (Moammar et al., 2010), 1/784
in United Kingdom (Sanderson et al., 2006), 1/1400 to 1/5000 in the US, 1/5000 in
(4) Thailand , 1/2500 in Canada (Applegarth et al., 2000), 1/2900 in Germany (Lindner et al.,
2011), 1/1944 in Egypt (Hassan et al., 2016), 1/2916 in Malaysia (Yunus et al., 2016),
1/2800 in South Korea (Yoon et al., 2005), and 1/3165 in Singapore (Lim et al., 2014) . The
incidence of IEMs is much lower in Japan, approximately 1/9000 (Yamaguchi, 2008;
Yamaguchi et al., 2013).
Newborn Screening
Our Aim Early Diagnose and Early Catch Disease and Early save life newborn baby.
