Essay On Newborn Screening

Newborn screening is the practice in which the harmful or potentially fatal conditions that can affect the infant's health or survival are detected. This process can prevent death or health problems and protect the infant against certain diseases and medical conditions. Newborn screening started in 1960's when many states in U.S.A. established a newborn test program for phenylketonuria (PKU) by using the Guthrie method, a system for the collection and transportation of blood samples on filter paper. Many Infants showed developments while receiving treatment. This success led to the addition of tests for other metabolic diseases. Over time, tests were added for endocrine disorders and now newborn screening program include more than 50 individual conditions.

Newborn screening is a system that consists of 5 parts in which the pediatrician holds a vital role.

Part 1: Testing of Newborn Infants

Both the obstetrician and the pediatrician have a responsibility in educating parents regarding the availability of newborn screening tests, the advantages of early detection of disorders, the risks of not receiving the screening, the process of screening and follow-up, and the governmental requirements that may exist. The pediatrician should also be aware of the factors that may affect the results of a specific screening test.

Part 2: Follow-up

Proper follow-up of an “abnormal” screening result is crucial.The main function of the follow-up program is to locate infants with abnormal screening results and facilitate timely diagnostic testing and management.

Part 3: Diagnostic Testing

Many of the disorders identified by newborn screening programs are heterogeneous. For proper screening, specialized laboratory testing, interpretation, and treat...

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...tifying the parents’ genetic potential for producing additional children with cystic fibrosis and, through presymptomatic identification, permitting the family to avert months or years of delay in the correct diagnosis of a child with chronic respiratory problems or poor growth.

4. Endocrine Disorders

Congenital Hypothyroidism

Congenital hypothyroidism is the most common disorder identified by routine newborn screening. It is found in about 1:3000 screened infants (Dussault, 1993). The major clinical features of untreated congenital hypothyroidism are growth retardation and delayed cognitive development leading to mental deficiency.

Congenital Adrenal Hyperplasia

CAH caused by steroid 21-hydroxylase deficiency occurs in 1:16,000 to 1:20,000 births. Infants with the salt-losing form of CAH can rapidly become hyperkalemic and die, often without a specific diagnosis.