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Table 1 Different modes of screening used for a different types of birth defects

From: Expansion of India’s national child healthcare programme, Rashtriya Bal Swasthya Karyakram (RBSK), for rare disease management : a health policy perspective

Type Birth defect

Example

Mode of screening

Visible birth defect

Neural Tube defect, cleft lip, limb deformities, club foot

Visual screening. Detected through proper head to toe physical examination

Functional defects

Congenital deafness, congenital cataract, congenital glaucoma

Identified with the help of non-invasive instruments and clinical examination

Metabolic disorders

Congenital Hypothyroidism, congenital adrenal Hypoplasia, G6PD, Sickle cell disease

Through blood investigations. Newborn Blood spot screening

Chromosomal abnormalities and genetic disorders

Down syndrome

Through visible anthropometric measurements

Neurological disorders

Congenital Cerebral Palsy, IUGR (Intrauterine Growth Restriction) associated with birth defect

Through observing behavioral patterns and developmental delays