Robert Guthrieis given much of the credit for pioneering theearliest screening for phenylketonuriain the late 1960s usingbloodsamples onfilter paper obtained by pricking a newborn baby's heel on the second day of life to get a few drops of blood.
Additionaltests have been added to many screening programs over the last two decades.
Disease qualificationCommon considerations in determining whether to screen for disorders:1.A disease that can be missed clinically at birth2.A high enough frequency in the population3.A delay in diagnosis will induce irreversible damages to the baby4.A simple and reasonably reliable test exists5.A treatment or intervention that makes a difference if the disease is detected early Newborn Screening in the Philippines
The following tests are mandated in theR.A. 9288or Newborn Screening program of 2004.Newbornscreening is available in practicing health institutions (hospitals, lying-ins, Rural Health Units and HealthCenters) with cooperation withDOH.If babies are delivered at home, babies may be brought to the nearestinstitution offering newborn screening
CH (Congenital hypothyroidism) - is a condition of thyroid hormone deficiency present at birth.Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even morehave mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidismcan lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroidhormone (thyroxine) by mouth.CAH (Congenital adrenal hyperplasia) - refers to any of several autosomal recessive diseases resultingfrom mutations of genes for enzymes mediating the biochemical steps of production of cortisol fromcholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in someaffected infants, children, or adults. Approximately 95% of cases of CAH are due to 21-hydroxylasedeficiencyGAL (Galactosemia
) - is a rare genetic metabolic disorder which affects an individual's ability to properlymetabolize the sugar galactose. Lactose in food (such as dairy products) is broken down by the body intoglucose and galactose. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, and brain damage.Without treatment, mortality in infants with galactosemia is about 75%PKU (Phenylketonuria
) - is an autosomal recessive genetic disorder characterized by a deficiency in theenzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and isconverted into phenylpyruvate (also known as phenylketone), which is detected in the urine. PAH is foundon chromosome number 12.Left untreated, this condition can cause problems with brain development,leading to progressive mental retardation and seizuresG6PD Deficiency- is an X-linked recessive hereditary disease characterized by abnormally low levels of the glucose-6-phosphate dehydrogenase enzyme (abbreviated G6PD or G6PDH). It is a metabolic enzymeinvolved in the pentose phosphate pathway, especially important in red blood cell metabolism