Newborn Screening

NEWBORN SCREENING

The newborn screening test (NBS) is often is referred to as the "PKU" test, but the NBS test screens for more than just PKU. It tests babies for between 3 and 8 hereditary disorders. The test is done to find out if your baby has inherited a disorder for which early treatment can prevent death or mental retardation. It is very important that your baby is tested as soon as possible. Even parents who have no family history of these disorders, or who have already had healthy children can still have children with these disorders. In fact, most children with these disorders come from families with no previous history of the condition.

The NBS blood test is performed by pricking your baby's heel and putting a few drops of blood on a special filter paper. The paper is sent to the laboratory where several tests are performed. The results are then sent to your hospital and doctor. If the test shows abnormal results, you will be notified and given directions on what to do. Follow the directions carefully. Usually additional tests will be necessary to determine if your child has the disorder.

Each state has different laws surrounding newborn screening in their state, and all babies are screened within the guidelines of these individual state laws. This means that your state could screen for as few as 3 disorders. To find out which of the disorders your state screens for in the NBS panel, click here:

Congenital Adrenal Hyperplasia (CAH)
Galactosemia
Homocystinuria
Hypothyroidism
Maple Syrup Urine Disease (MSUD)
Phenylketonuria
Tyrosinemia

Hemoglobinopathies

Sickle Cell Disease
Thalassemia

These disorders are tested for using traditional methods. Yet there's a relatively new method of screening called Tandem Mass Spectrometry (MS/MS) that can detect 30+ additional disorders. Click here to see a list of the 30+ disorders. The MS/MS test is performed using the same collection method of "pricking the baby's heal" as described above, but the blood is put on a separate filter card. MS/MS testing in conjunction with the traditional tests is often refereed to as expanded newborn screening, or comprehensive newborn screening (CNBS).

Most of the disorders screened for in the newborn screening are rare by themselves, but jointly the incidence rate of the disorders detected through expanded newborn screening is 1 of every 1,500. This means that 1 of every 1,500 babies born has a disorder detectable through a newborn screening test.

If your state screens for only a few disorders, and expanded screening is not available through your state; you can obtain a free screening kit by contacting the following laboratories that are offering expanded screening to the public. Please note that if your state doesn't screen for all of the 8 traditional disorders listed above, then Neo-Gen is the lab you should choose, as Baylor only does MS/MS testing and doesn't perform the traditional testing:

These offer complete screening.

Pediatrix Screening
1-866-463-6436

These offer partial screening.

Baylor Medical Center
1-800-4-BAYLOR

Mayo Medical Laboratories
1-800-533-1710

Note that the disorders screened for by each private lab are different. For more info on these labs click here.

Screening by means of both tandem mass spectrometry and traditional methods (CNBS) can detect 40 or more disorders.

Expanded Newborn Screening can also be performed on older children and adults. Except for a few of the disorders, age of the person does not prevent disorders from being detected. When ordering a testing kit for an adult, request adult specimen collection procedure instructions, which vary slightly. Costs for expanded screening of older children or adults can be slightly higher due to reconfiguration of the MS/MS machine to specifications for adults. The cost of older children and adult expanded newborn screening is approximately $25-$50.

DISORDERS DETECTED THROUGH TANDEM MASS SPECTROMETRY

Amino Acid Disorders:

Homocystinuria (HCU)
Hypermethioninemia
Maple Syrup Urine Disease (MSUD)
Nonketotic Hyperglycinemia (NKH)
Phenylketonuria (PKU)
Tyrosinemia-Type I & II

Urea Cycle Disorders:

Arginase Deficiency
Citrullinemia (AS)
Argininosuccinic Aciduria
Argininosuccinate Lyase Deficiency
Hyperammonemia, Hyperornithinemia, ___Homocitrullinuria Syndrome (HHH)

ACYLCARNITINE DISORDERS

Organic Acid Disorders:

2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Ketothiolase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency (MCC)
3-Methylglutaconyl-CoA Hydratase Deficiency
5-Oxoprolinuria
Adenosylcobalamin Synthesis Defects
Glutaric Acidemia-Type I
Isobutyryl-Coa Dehydrogenase Deficiency
Isovaleric Acidemia (IVA)
Malonic Aciduria (MA)
Methylmalonic Acidemia (MMA)
Methylmalonyl-CoA Mutase Deficiencies
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
Multiple CoA Carboxylase Deficiency
Propionic Acidemia (PPA)

Fatty Acid Oxidation Disorders:

2,4-Dienoyl-CoA Reductase Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
Carnitine Palmitoyl Transferase Deficiency-Type II (CPT-II)
Carnitine/Acylcarnitine Translocase Deficiency
L-3-hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHAD)
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD, GAII)
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
Trifunctional Protein Deficiency
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
...................(VLCAD) (aka LCAD)

MORE INFO ABOUT NBS Pamphlets: A Parent's Guide to Newborn Screening Also available in Spanish. What disorders does your state screen for? Click here to find out. Become a volunteer for Save Babies Through Screening. Click here For more info about Tandem Mass Spectrometry (MS/MS) from Duke University Medical Center Click here		ADDITIONAL INFO Save Babies Through Screening. Baylor Medical Center Pediatrix Screening Prenatal diagnosis info can be obtained from April L. Studinski, MS, CGC, Biochemical Genetics Laboratory, Mayo Clinic Phone: 507-255-3681. E-mail: studinski.april@mayo.edu
Remembering Lost Children Pregnancy and Infant Loss Best viewed with Internet Explorer. Pain, Heartache and Hope Angel Babies, Forever Loved		Additional Sites Parents of Children with Special Needs Most of the information is Indiana specific but there is disability info that all families can benefit from.