Neonatology

Neonatal Genetics 

Newborn genetic screening is the practice of testing every newborn for certain harmful or treatable genetic disorders in newborn infants.  Babies with these conditions appear normal at birth. It is only with time that the conditions affects the baby’s brain or physical development or causes other medical problems. By then the damage may be permanent.  Early diagnosis and treatment can result in normal growth and development and can reduce morbidity and mortality.

Newborn babies to be tested for rare diseases. A rare birth defect is a health condition that is present at birth. Birth defects may change the shape or function of one or more parts of the body as there are thousands of different birth defects. The most common are heart defects, cleft lip and palate, Down syndrome and spina bifida.

Orphan Drug Act (ODA) provided incentives to stimulate treatment product development for infants with rare disease.