CHAPTER II

REVIEW OF RELATED LITERATURE

Newborn Screening
According to Pat Furlong (2000), Newborn Screening is a practice of testing for every
newborn for certain harmful or potentially fatal disorder that isnt disorders, often called inborn
errors of metabolism, which interfere with the babys use of nutrients to maintain healthy
tissues and produce energy. Other disorders that may be detected through screening include
problems with hormones or the blood.
With a simple blood test, doctors can often tell whether newborns have certain conditions
that could eventually cause problems. Most states, the District of Columbia, Puerto Rico, and the
U.S. Virgin Islands now have their own mandatory newborn screening programs. (In some
states, such as Wyoming and Maryland, the screening is not mandatory).
The federal government has set no national standard; screening requirements vary from
state to state, as determined by individual state public health departments. As a result, the
comprehensiveness of these programs varies, with states routinely screening for anywhere from
four to ten disorders. Among the disorders are Congenital Hypothyroidism, Congenital Adrenal
Hyperplasia, Galactosemia, Phenylketonuria, G6PD deficiency, Severe Mental Retardation,
Death, Death or Cataracts, Severe Anemia, Kernicterus (Pat Furlong, 2000).

Newborn Screening in the Philippines

The following test are mandated in the R.A. 9288 or Newborn Screening Program of
2004. Newborn Screening is available in practicing health institutions (Hospitals, Lying-ins,
Rural Health Units and Health Centers) with cooperation with Department of Health. If babies
are delivered at home, babies may be brought to the nearest institution of offering newborn
screening. However, now there is also a simple method by which the newborn screening can be
made possible even at home. The urine sample of newborn can be absorbed on filter paper and
sent to laboratories which may run the test. The reports are simple enough to be understood by
the parents. A negative screen means that the result of the test is normal and the baby is not
suffering from any of the disorders being screened. In case of a positive screen, the newborn
screening nurse coordinator will immediately inform the coordinator of the institution where the
sample was collected for recall of patients for confirmatory testing. Babies with positive results
should be reffered at once to the nearest hospital or specialist for confirmatory test and further
management. Should there be no specialist in the area, the newborn screening secretariat office
will assist its attending physician.
The Department of Health on Essential Newborn Care, a new program to address
neonatal deaths in the country. Under the umbrella of the Unang Yakap Campaign, Essential
Newborn Care is an evidenced based strategic interventions aimed at improving newborn care
and helping cub neonatal mortality (National Center for Environmental Health, 2002).

Importance of Newborn Screening among newborns

According to Journal of the American Medical Association (2006), Newborn Screening
test for a set of congenital or inherited disorders. It is a crucial that these disorders are detected as
early as possible. Children diagnosed with one of the tested congenital disorders can continue
to live normal and healthy lives as long as they are given treatment on time and consistently
follow up with a specialist. An affected baby looks healthy at birth because symptoms do not
begin to show until a much later age. Once the signs and symptoms set in the ill effects are often
already permanent. If these conditions are left untreated, they may cause health complications,
inhibit mental development or become fatal (Journal of the American Medical Association
2006).
How Newborn Screening is performed
According to Lashley E. (2002), that in the first 2 or 3 days of life, the babys heel will be
pricked to obtain a small blood sample for testing. Most states have a state or regional laboratory
perform analyses, although some use a private laboratory. This process is ideally done during the
48th and 72nd hour of life. A negative screen means that results are normal. A positive screen will
require the newborn to be brought back to her pediatrician for further testing.
It is generally recommended that the sample be taken after the first 24 hours of life. Some
tests, such as the one for Phenylketonuria (PKU), may not be as sensitive if theyre done too
soon after birth. However, because mothers and newborns are often discharged within a day,
some babies may be tested within the first 24 hours. If this happens, the Attending Physician

(AP) recommends that s repeat be taken no more that 1 to 2 weeks later. Its especially important
that the Phenylketonuria (PKU) screening test be run again for accurate results. Some states
routinely do two tests on all infants (Lashley, 2002).
Newborn Screening Test for Five Disorders
According to Kayton A. (2007), Congenital Hypothyroidism (CH) results from lack or
absence of thyroid hormone, which is essential to growth of the brain and the body. If the
disorder is not detected and hormone replacement is not initiated within 4 weeks, the babys
physical growth will be stunted and she/he may suffer from mental retardation. Congenital
Adrenal Hyperplasia (CAH) is an endocrine disorder that causes severe salt lose, dehydration
and abnormally high levels of male sex hormones in both boys and girls. If not detected early,
babies may die within 7-14 days. Galactosemia (GAL) is a condition in which the body is unable
to process galactose, the sugar present in milk. Accumulation of excessive galactose in the body
can cause many problems, including liver damage, brain damage and cataracts. Phenylketonuria
(PKU) is a metabolic disorder in which the body cannot properly use one of the building blocks
of protein called phenylalanine. Excessive accumulation of phenylalanine in the body causes
brain damage. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency) is a
condition where the body lacks the enzyme called G6PD. Babies with this deficiency may have
hemolytic anemia resulting from exposure to certain drugs, foods and chemical (Kayton A.,
2007).

Department of Health on Newborn Screening

According to Katharina A. (2010), the Department of Health and other health
organizations strongly recommend babies to undergo Newborn Screening. Sometimes, some
parents decline for various reasons, such as religious concerns. In these cases, they are asked to
acknowledge in writing that they understand the benefits of Newborn Screening and that they
know they may be placing their newborn at risk for undiagnosed congenital conditions by
declining the test. This dissent from is included in the newborns medical record and is recorded
in the National Newborn Screening Programs database.