The birth of your baby is such an exciting time – full of great anticipation as well as the inevitable worry about the health of your newborn! While physical problems will be evident on a first exam, other disorders require special testing to discover. So before your newborn leaves the hospital, he/she will have Newborn Screening (NBS) test performed. This testing is done after 24 hours of life. Sometimes you will hear it referred to as a Metabolic Screening Test (MST) or a PKU test, which was the first test in the program.
The Georgia Newborn Screening Program includes testing for 31 disorders. Testing babies in the first couple days of life allows your provider to discover these problems before your baby becomes ill and before any damage can be done.
Types of Screening
There are three main components of the program: blood screening, hearing screening and critical congenital heart disease testing.
The blood tests will look for 29 different disorders (see below for complete list) including hormone disorders, problems with processing nutrients (metabolic disorders), hemoglobin abnormalities and other inherited conditions. The disorders included are:
- Beta Ketothiolase (BKT) • Cobalamin A and B Deficiency (Cbl A,B ) • Glutaric Acidemia type I • 3OH 3-CH3 Glutaric Aciduria (HMG) • Isovaleric Acidemia (IVA) • 3 Methylcrotonyl-Co A Carboxylase Deficiency (3MCC) • Multiple Carboxylase Deficiency • Methylmalonic Acidemia (MMA) • Propionic Acidemia • Caritine Uptake Defect • Long Chain 3 hydroxyl acyl-CoA dehydrogenase Deficiency • Medium Chain acylCoA dehydrogenase Deficiency • Trifunctional Protein Deficiency • Very Long chain acyl-CoA dehydrogenase Deficiency • Argininosuccinic Acidemia • Citrullinemia • Homocystinuria • Maple Syrup Urine Disease • Phenylketonuria • Tyrosinemia • Sickle Cell Disease • Sickle SC Disease • Sickle Beta Thalassemia • Biotinidase • Congenital Adrenal Hyperplasia • Congenital Hypothyroidism • Cystic Fibrosis • Galactosemia
If a screen is positive, then confirmatory testing is done before a definite diagnosis is made. By discovering the disorders early, prompt treatment can begin with a medication or diet modification and/or referral to the appropriate specialist for ongoing management.
The hearing screen is done on all newborns before leaving the hospital. Hearing loss is present in 3 in 1000 newborns. By detecting hearing loss at birth, interventions can be done to maximize a child’s speech and communication development. Sometimes an infant will not pass the initial hearing test due to fluid that may be present at birth. Babies who do not initially pass will have their hearing repeated in two weeks and most will pass at that time.
The final component of the newborn screen is testing for critical congenital heart disease. This is simply a test of their oxygen level with a light sensor placed on a toe or finger. While this won’t detect all congenital heart disease, it will pick up many of the most critical conditions that need intervention in the first week of life.
Together these three tests can detect uncommon but generally treatable conditions and allow early treatment to begin. This prompt treatment will provide the best possible outcome for your newborn.