Newborn Metabolic Screening

All states screen newborns for certain birth defects that cannot be seen in the newborn, but can cause physical problems, mental retardation and, in some cases, death. 

Fortunately, most babies receive a clean bill of health when tested. When test results show that the baby has a birth defect, early diagnosis and treatment can make the difference between lifelong disabilities and healthy development.

New Jersey tests for 20 different disorders. The baby’s heel is pricked to obtain a few drops of blood for laboratory analysis. 

Testing includes:

• Congenital Hypothyroidism
• Galactosemia
• Hemoglobinopathies, including Sickle Cell
• Phenylketonuria (PKU)
• Biotinidase Deficiency
• Congenital Adrenal Hyperplasia (CAH)
• Cystic Fibrosis
• Maple Syrup Urine Disease
• Fatty Acid Oxidation Disorders
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
• Short chain acyl-CoA dehydrogenase deficiency (SCAD)
• Long chain acyl-CoA dehydrogenase deficiency (LCAD)
• Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Urea Cycle Disorders
• Argininosuccinic academia
• Citrullinemia
• Organic Acidemias
• Methylmalonic academia (MMA)
• Propionic academia (PPA)
• Isovaleric academia (IVA)
• Glutaric academia Type I (GA –type 1)
• 3 - hydroxy - 3 methyl glutaryl - CoA Lyase deficiency (HMG)
• 3 – methyl – crontonyl – CoA carboxylase deficiency (3-MMC)

Any baby with abnormal screening results will be followed by the Newborn Screening and Genetic Services Program in Special Child, Adult and Early Intervention Services to ensure that the child and his or her family is linked with a primary care provider and the regional network of specialty care centers to receive timely and appropriate services. Also, any baby with a metabolic birth defect will be reported to the Special Child Health Services Registry that will further link the family to services.

Additional testing is available.  Discuss the need for additional testing with your obstetrician.

If you decide to have additional testing, the screening packet should be obtained prior to delivery and taken to the hospital with you.  Be sure to find out whether or not your insurance will cover the cost of the extra tests.

Some places to go for more information:

March of Dimes               www.modimes.org
FDA Laboratory                www.fda.gov/cdrh/clia