Newborn Screening Test
WHAT IS THE NEWBORN SCREENING?
It is a simple blood test that detects very harmful or fatal disorders, which are not apparent at birth. The test is done with all newborns in Germany but only with the consent of the parents. In Germany 22 disorders are tested. The overall detection rate is 1 / 1000, but most of the severe disorders are very rare.
HOW IS IT DONE?
Four to six blood drops are taken on day second of life but not less than 36 hours after birth. The test is done by a tandem mass spectrometry, which is able to screen one drop of blood for more than 20 disorders.
WHICH DISORDERS ARE INVESTIGATED IN GERMANY?
Most of the disorders are inherited and are metabolic disorders, also called inborn errors of metabolism. The body lacks certain enzymes and cannot properly metabolize the metabolite, which the body mostly takes up through the food we eat. The lack of enzyme for that specific metabolite leads to an accumulation of toxic products in the body and causes damage to specific organs, characteristic for that specific disorder.
The following disorders are tested :
- inborn errors of amino acid metabolism; phenylketonuria, hyperphenylalaninemia, maple syrup urine disease
- inborn errors of organic acid metabolism; glutaric acidemia type I, isovaleric acidemia
- Inborn errors of fatty acid metabolism
- congenital hypothyroidism
- biotinidase deficiency
- classical galactosemia
- classical congenital adrenal hyperplasia
HOW ARE YOU INFORMED ABOUT THE RESULTS?
Everything is normal if you do not hear anything about the test. In case a test needs to be repeated or is positive the hospital will inform the parents.
WHAT WILL HAPPEN IF THE TEST IS POSITIVE?
In case the test is positive for a disorder you will be immediately informed to make an appointment with a specialist. The therapy and intervention depends on the specific disorder your child will has. In most cases it will be a long life therapy.