NEWBORN METABOLIC SCREENING PROGRAM

Please click on links below for more information about the NBMS program.

Overview of program
NBS practitioners’ manual
Brochure
Disorders tested
Sickle Cell Disease and Trait Protocol
Thalassemias and Other Hemoglobinopathies Protocol Hawaii
Cystic Fibrosis Newborn Screening Information
More information about Expanded NBS
Parent Fact Sheets about Expanded NBS
Practice Profile

All parents want healthy babies. However, some children are born with errors in their body chemistry that often show no outward symptoms. If these rare but serious conditions are not discovered early, poor physical and mental development, and even death, may occur. To make sure infants at risk are identified, the state of Hawaii requires screening of all newborns for certain genetic/metabolic disorders. If found and treated before symptoms appear, babies born with these disorders may lead a normal, healthy life.

WHO SHOULD HAVE A NEWBORN BLOOD TEST?
State law requires that every newborn baby be tested. You may refuse to have your baby tested if it is against your religion. Parents who refuse the test must sign a refusal form.

WHAT DISORDERS ARE TESTED FOR?
In Hawaii, all newborns are checked for thirty-two different disorders. They are:Endocrine (hormone) disorders:

  • Congenital adrenal hyperplasia in which the adrenal glands are unable to produce normal amounts of certain hormones.
  • Congenital hypothyroidism in which the thyroid gland cannot make enough thyroid hormone for normal body and brain growth.

Hemoglobin (blood) disorders:

  • Sickle cell disease and other hemoglobinopathies in which abnormal hemoglobin in the red blood cells may cause anemia.

Other disorder:

  • Cystic Fibrosis

Metabolic (metabolism) defects:

  • Biotinidase deficiency in which the body is unable to use biotin, a B-vitamin.
  • Galactosemia in which the body cannot break down a sugar (galactose) found in milk.
  • Amino acid (protein) disorders: a group of hereditary disorders caused by enzymatic defects, which result in the toxic accumulation of certain amino acids in the blood.
    • Homocystinuria
    • Maple Syrup Urine Disease (MSUD)
    • Phenylketonuria (PKU)
    • Tyrosinemia (Types I and II)
  • Fatty acid oxidation disorders: a group of hereditary disorders caused by defects in enzymes which are involved in the breakdown of dietary and stored fats to energy.
    • Short chain acyl-CoA dehydrogenase deficiency (SCAD)
    • Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
    • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
    • Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
    • Multiple acyl-CoA dehydrogenase deficiency (MADD) Carnitine uptake/transport defects
  • Organic acid disorders: a group of hereditary disorders caused by enzymatic defects which result in a toxic accumulation of certain organic acids in the blood.
    • Beta-ketothiolase deficiency
    • Glutaric acidemia Type I
    • Isobutyryl CoA dehydrogenase deficiency
    • Isovaleric academia
    • Malonic aciduria
    • Methylmalonic acidemias
    • Multiple carboxylase deficiency
    • Propionic acidemia
    • 2-Methyl-3-hydoxybutryl CoA dehydrogenase deficiency
    • 2-Methylbutyryl CoA dehydrogenase deficiency
    • 3-Hydroxy-3-methylglutaryl (HMG) CoA lyase deficiency
    • 3-Methylcrotonyl CoA carboxylase deficiency (3-MCC)
    • 3-Methylglutaconyl CoA hydratase deficiency
  • Urea cycle disorders: a group of hereditary disorders, caused by enzymatic defects which result in a toxic accumulation of ammonia in the blood.
    • Arginase deficiency
    • Argininosuccinate lyase deficiency (ASA)
    • Citrullinemia

Some disorders are treated with special diets, and other disorders are treated with medications. If treated early, infants may grow up to lead a normal, healthy life. In a few cases, the disorders may not be completely treatable. The early diagnosis and treatment of the disorder will allow your baby the best chance of normal growth and development.

HOW IS THE BABY TESTED?
Your baby’s heel is pricked and a few drops of blood are put on a special test paper. This test paper is sent to a state approved laboratory.

 WHEN SHOULD THE TEST BE DONE?

  •  The test should be done before your baby leaves the hospital. 
  • If your baby is tested before 24 hours of age, a second test should be done before your baby is 2 weeks old. 
  • If your baby is born at home, your baby should be tested before 7 days of age.

WHO WILL MAKE SURE THAT YOUR BABY HAS A NEWBORN BLOOD TEST?
The doctor, midwife, or nurse who delivered, or is caring for, your baby should make sure that the newborn screening test is done.

HOW CAN I GET THE RESULTS?
Your baby’s doctor will talk to you about the test results. More tests may be needed. This does not mean your baby has a disorder. If you are asked to have your baby tested again, please do it as soon as possible.

WHAT IF YOU MOVE?
Let your doctor know if you have a new address or phone number. This information is important if your baby needs follow-up.

HOW MUCH DOES THIS TEST COST?
Most health insurance pays for the newborn test. If you cannot afford the cost of the test, please call the Hawaii Newborn Metabolic Screening Program at (808) 733-9069.