Newborn Screening Center - NIH
Established in 1997, the Newborn Screening Center—NIH is the first Department of Health (DOH) accredited Newborn Screening Facility in the country providing the most advanced newborn screening test that can now screen for more than twenty disorders with Expanded Newborn Screening.
Expanded Newborn Screening allows the detection of more genetic disorders which includes the following:
- Glucose-6 Phosphate Dehydrogenase Deficiency
- Congenital Hypothyroidism
- Congenital Adrenal Hyperplasia
- Maple Syrup Urine Disease
- Cystic Fibrosis
- Biotinidase Deficiency
- Organic Acid Disorders
- Fatty Acid Oxidation Disorders
- Amino Acid Disorders
- Urea Cycle Disorders
- Hemoglobin Disorders
FREQUENTLY ASKED QUESTIONS (FAQs):
Why is it important to have expanded newborn screening?Most babies with metabolic disorders look "normal" at birth. By doing NBS, metabolic disorders may be detected even before clinical signs and symptoms are present. And as a result of this, treatment can be given early to prevent consequences of un-treated conditions.
What is the difference between newborn screening and expanded newborn screening?The difference is the number of disorders each of them can detect. Both tests are performed by collecting a few drops of blood through the heel-prick method but the laboratory testing methods applied are different.
What are the additional disorders tested by expanded newborn screening?Aside from the six conditions in the present panel Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, Maple Syrup Urine Disease and Glucose-6-Phosphate Dehydrogenase deficiency --expanded newborn screen-ing will screen for additional disorders falling under various groups of conditions namely: hemoglobinopathies, disorders of amino acid and organic acid metabolism, disorders of fatty acid oxidation, disorders of carbohydrate metabolism, disorders of biotin metabolism and cystic fibrosis.
Positive NBS results are relayed to the parents immediately by the health facility. Please ensure that the address and phone number you will provide to the health facility are correct.
A NEGATIVE SCREEN MEANS THAT THE NBS RESULT IS NORMAL.
A positive screen means that the newborn must be brought back to his/her health practitioner for further testing.