R.A. 9288

I did some research on this law, also known as the Newborn Screening Act of 2004 and I got this from famli.blogspot.com

Heel Prick Method for the newborn screening 

What is Republic Act No. 9288?

It is the Philippine law promulgating a comprehensive policy and a national system for ensuring newborn screening. RA 9288 is known as the “Newborn Screening Act of 2004.” It was approved on April 07, 2004.

What is the policy of the State with regards the health of the people, especially children?

It is the policy of the State to protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals.
In pursuit of such policy, the State through RA 9288 has institutionalized a national newborn screening system that is comprehensive, integrative and sustainable, and will facilitate collaboration among government and non-government agencies at the national and local levels, the private sector, families and communities, professional health organizations, academic institutions, and non-governmental organizations.

The National Newborn Screening System shall ensure that every baby born in the Philippines is offered the opportunity to undergo newborn screening and thus be spared from heritable conditions that can lead to mental retardation and death if undetected and untreated.

What are the objectives of the National Newborn Screening System?

[1] To ensure that every newborn has access to newborn screening for certain heritable conditions that can result in mental retardation, serious health complications or death if left undetected and untreated;

[2] To establish and integrate a sustainable newborn screening system within the public health delivery system;

[3] To ensure that all health practitioners are aware of the advantages of newborn screening and of their respective responsibilities in offering newborns the opportunity to undergo newborn screening; and

[4] To ensure that parents recognize their responsibility in promoting their child’s right to health and full development, within the context of responsible parenthood, by protecting their child from preventable causes of disability and death through newborn screening.

What is meant by Comprehensive Newborn Screening System?

It means a newborn screening system that includes, but is not limited to,

[1] Education of relevant stakeholders; collection and biochemical screening of blood samples taken from newborns;

[2] Tracking and confirmatory testing to ensure the accuracy of screening results; clinical evaluation and biochemical/medical confirmation of test results;

[3] Drugs and medical/surgical management and dietary supplementation to address the heritable conditions; and

[4] Evaluation activities to assess long term outcome, patient compliance and quality assurance.

Newborn Screening Program in the Philippines

The following tests 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 DOH. If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening. A negative screen mean 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 NBS 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 referred at once to the nearest hospital or specialist for confirmatory test and further management. Should there be no specialist in the area, the NBS secretariat office will assist its attending physician. Disorders Screened:

• 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 more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life.
• CAH (Congenital adrenal hyperplasia) - refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol 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 some affected infants, children, or adults. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.
• GAL (Galactosemia) - is a rare genetic metabolic disorder which affects an individual’s ability to properly metabolize the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose 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 the enzyme 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 is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. PAH is found on chromosome number 12.Left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. Damage done is irreversible so early detection is crucial.
• G6PD 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 enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism.
• Newborn screening results are available within three weeks after the NBS Lab receives and tests the samples sent by the institutions. Results are released by NBS Lab to the institutions and are released to your attending birth attendants or physicians.Parents may seek the results from the institutions where samples are collected. Christian Nieto,EACSN