Newborn Screening

Newborn Screening is a well-recognized public health programme aimed at the early identification of infants who are affected by certain genetic/metabolic conditions such as Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, and Glucose 6-Phosphate Dehydrogenase Deficiency. It is a collaborative effort between public health departments, hospitals, government agencies and the parents of the children screened.

Early identification of these conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants. Establishing sustainable newborn screening programmes in developing countries poses major challenges as it competes with other health priorities--immunization, malnutrition, etc. Despite this, it is imperative that developing countries recognize the importance of newborn screening based on experiences on both developed and developing countries in saving thousands of babies both developed and developing countries in saving thousands of babies from mental retardation, death and other complications. Some of the critical factors necessary for a successful national newborn screening programme are inclusion of newborn screening among government priorities, funding (including the possibility of newborn screening fees), public acceptance, health practitioners’ cooperation, and government participation in institutionalizing the newborn screening system.(Padilla, 2008)

Every infant born in the United States is screened shortly afterbirth using heel-stick blood spots to detect a variety of congenital conditions. Many infants are also screened for congenital hearing loss. Newborn screening programs have been developed and managed within states, the District of Columbia, Puerto Rico, the US, Virgin Islands, and Guam. As public health programs, they require a coordinated system of follow-up, diagnosis, and treatment. Periodic program evaluation is also necessary. Newborn screening is also more than a state-run program that ensures that each abnormal screening result is linked to a particular infant who subsequently receives diagnostic test and, if indicated, referral for appropriate treatment. Newborn screening is a 5-part system in which the pediatrician plays a vital role. (Kaye, C.I., 2006)