The newborn screening is a global strategy which aims to detect inherited metabolic diseases (IMD) or genetic disorders not commonly apparent at birth. As such, inherited metabolic diseases otherwise known as inborn errors of metabolism impair the normal growth and development which greatly affects the quality of life among children. These disorders affect primarily the central nervous system resulting to developmental delay and mental retardation or even death. Developing countries around the world have already mandated the screening. In the Philippines, all efforts have been exerted to expand the newborn screening program. It is mandated in the Republic Act No. 9288, also known as the“Newborn Screening Act of 2004” which states that
every Filipino newborn has the opportunity to undergo newborn screening and shall be protected from heritable disorders that may lead to disability or death. Whether you’re in doubt or afraid to have your baby tested, the following information will help you understand and get to know more about newborn screening.
What is newborn screening?
Newborn Screening (NBS) is a procedure conducted in order to detect congenital metabolic disorders in your baby. These disorders may lead to mental retardation or even death if left untreated.
Why screen your baby?
During the early stage of life, most babies with inherited metabolic diseases are often asymptomatic, making them appear healthy and normal. A simple screening can provide remarkable benefits to your baby. Early detection of metabolic disorders gives way to prompt intervention which significantly reduces mortality. Although some cases are rare and cannot be completely cured, children diagnosed at an early age experienced substantial and meaningful benefits and improved quality of their everyday lives.
Physical and emotional distress incurred by the family from late diagnosis and expensive therapies can also be minimized. Parents can undergo genetic counseling and be forewarned of the chance of passing the defective trait to their future children.
When is the best time for this procedure?
Ideally, NBS is performed during the first 48-72 hours of life. However, it may also be done 24 hours after delivery.
Where is NBS available?
The test can be performed in any of the following setting; hospitals, lying-ins, rural health units (RHUs) and health centers.
How is the procedure done?
The blood samples may be collected by a doctor, nurse, medical technologist or a trained midwife. Scant amount of blood is collected from your baby through the heal-prick method and blotted on a special absorbent filter card and sent to be examined in the NBS center. The dried blood spot is used to test multiple of disorders and is universally favored.
Can I afford the newborn screening test?
Yes! The newborn screening is included in the newborn care package for Philhealth members and amounts 550 php.
Claiming NBS results
The results are claimed in your respective NBS centers. Normal or negative results are available 7-14 working days from the day samples were sent to the NBS center. On the other hand, positive results are reported immediately to the parents.
Interpreting NBS results
A negative screen indicates that the newborn screening is normal.
A positive screen indicates that the baby must be brought back to the health facility. They are referred to a specialist for confirmatory testing and further observation.
Currently, there are six inherited metabolic disorders included in the Philippine Newborn Screening Program.
1. Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia (CAH) is an inherited abnormality of the adrenal gland that is responsible for the production of the hormones cortisol, aldosterone, and androgen. A child may manifest salt crisis, dehydration and overproduction of male sex hormones in both boys and girls. As soon as treatment is initiated early among children with CAH, normal development is expected.
2. Congenital Hypothyroidism
Congenital hypothyroidism is caused by lack or absence of the thyroid hormone which is primarily for growth and development of a child. The symptoms may include slow metabolism, neurologic deficits, growth failure and mental retardation. Once the disorder is detected, oral thyroid hormone replacement is initiated immediately.
Galactosemia is a congenital disorder in which a child cannot digest the enzyme galactose, that is predominately food on milk and milk products. A defect in the enzyme called galactose-1-phosphate uridyl transferase (GALT) inhibits the conversion of galactose to glucose and therefore, increased amounts in the blood leads to life threatening conditions such as severe mental retardation, cataracts, liver damage and brain damage. Adherence to diet is the key among patients with galactosemia. A special galactose and lactose- free diet is prescribed as well as calcium supplements.
4. Glucose 6-Phosphate Dehydrogenase Deficiency (G6PD)
Probably the most common condition among the newborn screening group of disorders, G6PD is a condition that does not usually manifest symptoms until the body is exposed to triggers. The lack of enzyme known as the G6PD places your child at risk for hemolytic anemia. Exposure to oxidative substances found in food, drugs and chemicals leads to hemolysis or destruction of the red blood cells.
Phenylketonuria (PKU) is an inborn error of metabolism caused by lack of liver enzyme, phenylalanine hydroxylase. Accumulation of excess phenylalanine in the blood results to mental retardation and seizures. Phenylketones can also accumulate in the urine and produce a musty odor in the urine. Physical appearance of children with PKU is marked by blonde hair, blue eyes and fair skin. Lifelong treatment and counseling is needed among diagnosed children.
6. Maple Syrup Urine Disease (MSUD)
It is a gene defect in which a child cannot break down branched chain of amino acids. Increased levels in the blood cause the urine to have a maple syrup-like odor. Also, this condition can further lead to lethargy, coma, and mental retardation.
The newborn screening program in the Philippines is expanding and evolving. In an article published in Philippine Council for Research and Development, the DOH approved of expanding the NBS services from testing only 6 to 22 more metabolic disorders. “The screening of more disorders will save more lives and reduce unnecessary negative health outcomes of Filipino newborns” (DOH, 2013). Over the years, the screening developed from “one testing to a disease” into “one testing to multiple of diseases”.
- Frank, J. (2005 Oct 1). Diagnosis and Management of G6PD Deficiency. Retrieved from http://www.aafp.org/afp/2005/1001/p1277.html.
- Suerte, J. M. (2013 Sept 20). DOH approves expanded newborn screening program. Retrieved from http://www.pchrd.dost.gov.ph.
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