NewBorn Screening

A pediatric service provided to newly born children to screen for several congenital abnormalities like
A. Inborn errors of metabolism
B. Endocrinopathies
C. Congenital Infections
D. Immune deficiencies
E. Hemoglobinopathies
F. Hearing loss
G. Congenital heart disease
These disorders if not detected within first two weeks of birth will lead of permanent, irreparable physical and mental disorders and retardation. These undiagnosed disorders are one of the leading causes of early child death.Most of these life threatening and disabling disorders are genetic in nature, so these can not be permanently cured, but with early diagnosis and treatment almost near normal outcomes are possible.
The treatment is usually lifelongNeonatal screening is a preventive pediatric service performed to identify/rule out the presence of certain congenital disorders. It ensures that all babies are screened for certain serious conditions at birth. these conditions could arise as a result of
A. genetic reason: these are the most common reasons for congenital disorders. All In Born Errors of metabolism are from genetic reasons. These disorders make the child unable to metabolize certain nutritions like fats, amino acids, carbohydrates etc. This inability leads to deposition of toxic metabolites and severe deficiencies leading to mental physical and neurological disabilities.
B. Infectious: Certain infections like toxoplasmosis, HIV are passed on from mother to child during pregnancy if the mother is infected. while most mothers are tested for HIV not all are tested for toxoplasmosis. These infections lead to sever disabilities like deafness, blindness and mental and neurological complications.
C. Endocrinological: many times a baby is born with a sever endocrine disorders which lead to inability to produce the right hormones like TSH for Thyroid and Progesterone. These inabilities lead to deposition of toxins and deficiency of the hormones. Such disorders lead to improper sexual development of both boys and girls, Mental, behavioural and systemic disorder like kidney diseases.
The complications and types are not limited to above categories. Consanguinity or marriage between first or second cousins or within family increases the chances of such disorders many folds.
In India these disorders are found in much higher percentages as compared to the worldwide figures.
In western world and many developing counties like China, Russia, Brazil NBS is mandatory for each and every child just like vaccination.
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