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Frequently Asked Questions

  1. What is Newborn Screening?
  2. Is Newborn Screening testing required?
  3. Is Newborn Screening a new program?
  4. How is the screening performed?
  5. What are the limitations?
  6. What if my baby needs a retest? Does that mean that my baby has the disorder?
  7. How will I learn my baby’s results?
  8. Can I say NO to the test?
  9. How much does it cost me?
  10. How can I get more information?
  11. What disorders are included on the newborn screening panel?

 

What is Newborn Screening?

Newborn screening is a comprehensive program that includes laboratory testing, follow-up of results, and if necessary, examination and treatment by a qualified specialist. Early detection and treatment of the disorders on the newborn screening panel can prevent lifelong disabilities, including intellectual and developmental disabilities, and life threatening infections. Without prompt and careful treatment of these disorders, permanent disability or even death could occur.

Is Newborn Screening testing required?

All babies born in New Jersey are required by law to be tested for fifty-four (54) disorders within 48 hours of birth. One heel prick provides enough blood to test for all fifty-four disorders.

Is Newborn Screening a new program?

No. New Jersey began testing for Phenylketonuria (PKU), a metabolic disease, in 1964. Since that time, newborn screening has expanded to include detection for more than fifty disorders. Currently, all U.S. states mandate newborn testing for at least 26 conditions including PKU, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, and Sickle Cell Anemia.

How is the screening performed?

All screening tests are performed on a tiny blood sample, obtained by pricking the heel of your baby. Samples are usually taken at the hospital before your baby is discharged home.  The sample is allowed to air dry and is then submitted to the Newborn Screening Laboratory for testing. Any abnormal results are reported to the Newborn Screening and Genetic Services program for follow-up activities.

What are the limitations?

The tests performed are ‘screening’ tests and are different from diagnostic tests. The screen cannot detect all inborn errors of metabolism. The test may fail to identify some babies with these disorders, and some babies who test positive may not actually have the disorder. Sometimes babies who are born prematurely, who are underweight at birth, or who may have received a blood transfusion can test positive, but not have the disorder. Your baby’s doctor may want to repeat the newborn screening test or do other testing to check the results.

What if my baby needs a retest? Does that mean that my baby has the disorder?

Not necessarily. There are several reasons why your baby may need to be retested. Some of those reasons may include:

  • Your baby was less than 24 hours old at the time the first blood sample was taken
  • The blood sample was collected while the baby was receiving special formula or was on medication
  • The sample did not contain enough blood or the blood was not taken properly
  • Your baby was premature or underweight
  • The results were very close to normal and a retest is needed to rule out the disorder

How will I learn my baby’s results?

Make sure that your birth hospital and your baby’s doctor have your correct address and phone number.  Your baby’s test results will be sent to the hospital where the sample was taken. Results that require additional testing are also sent to the physician listed on the newborn screening kit.  You should ask your baby’s doctor for the test results when you bring the baby in for his/her first checkup. If your baby needs a retest you will be notified by your baby’s doctor or you will get a letter from the Newborn Screening Laboratory or the Newborn Screening Follow-up Program.  If your baby does need a retest, please get it done right away.

Can I say NO to the test?

An exception is made when parents or guardians object on the grounds that the tests are against their religious beliefs or practices. A signed statement to this effect must be recorded in the baby’s hospital record.

How much does it cost me?

There is no charge to the patient for the state newborn screening test.

How can I get more information?

For more information on Newborn Screening in New Jersey you can contact the Newborn Screening Follow-up Program at (609) 292-1582.

The following websites have information regarding newborn screening:

CENTERS FOR DISEASE CONTROL AND PREVENTION
www.cdc.gov

NATIONAL INSTITUTES OF HEALTH
www.nih.gov/health

MARCH OF DIMES
www.modimes.org

NATIONAL NEWBORN SCREENING AND GENETIC RESOURCE CENTER
www.genes-r-us.uthscsa.edu

BABY’S FIRST TEST
www.babysfirsttest.org

What disorders are included on the newborn screening panel?

Disorder Name

Abbreviation

Fatty Acid Oxidation Disorders

2,4-Dienoyl-CoA reductase deficiency

DERED

Carnitine palmitoyltransferase I deficiency

CPT I

Carnitine palmitoyltransferase II deficiency

CPT II

Carnitine/acylcarnitine translocase deficiency

CACT

Carnitine uptake defect

CUD

Glutaric acidemia type II

GA II

Long chain 3-Hydroxyacyl-CoA dehydrogenase deficiency

LCHAD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Medium/Short chain 3-Hydroxy acyl-CoA dehydrogenase deficiency

M/SCHAD

Medium chain acyl-CoA dehydrogenase deficiency

MCAD

Medium chain ketoacyl-CoA thiolase deficiency

MCKAT

Short chain acyl-CoA dehydrogenase deficiency

SCAD

Trifunctional protein deficiency

TFP

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD

 

 

Organic Acidemia Disorders

2-Methyl-3-hydroxybutyric aciduria

2M3HBA

2-Methylbutyrylglycinuria

2MBG

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

HMG

3-Methylcrotonyl-CoA carboxylase deficiency

3MCC

3-Methylglutaconic aciduria

3MGA

beta-Ketothiolase deficiency

BKT

Glutaric acidemia type I

GA I

Isobutyrylglycinuria

IBD

Isovaleric acidemia

IVA

Malonic acidemia

MAL

Methylmalonic acidemia - Cobalamin A, B

CBL A, B

Methylmalonic acidemia - Cobalamin C, D

CBL C, D

Methylmalonic acidemia - Mutase

MUT

Multiple carboxylase deficiency

MCD

Propionic acidemia

PROP

 

 

Amino Acid & Urea Cycle Disorders

Argininemia

ARG

Argininosuccinic acidemia

ASA

Hyperphenylalanemia (benign)

H-PHE

Biopterin cofactor defect of biosynthesis

BIOPT-BIO

Biopterin cofactor defect of regeneration

BIOPT-REG

Citrullinemia type I

CIT I

Citrullinemia type II

CIT II

Homocystinuria

HCY

Hypermethioninemia

MET

Maple syrup urine disease

MSUD

Phenylketonuria

PKU

Tyrosinemia type I

TYR I

Tyrosinemia type II

TYR II

Tyrosinemia type III

TYR III

 

Endocrine Disorders

 

Congenital Adrenal Hyperplasia

CAH

Congenital Hypothyroidism

CH

 

 

Metabolic Disorders

 

Biotinidase deficiency

BIOT

Classical galactosemia

GALT

Galactoepimerase deficiency

GALE

Galactokinase deficiency

GALK

 

 

Other Disorders

 

Cystic fibrosis CF

CF

Hemoglobin S/Beta-thalassemia S/βThal

S/bThal

Hemoglobin S/C disease S/C

S/C

Other Hemoglobinopathies Var Hb

Var Hb

Sickle cell anemia S/S

S/S


You can get more information on these 54 disorders by clicking here:

GENETICS HOME REFERENCE
http://ghr.nlm.nih.gov

or here:


BABY’S FIRST TEST
http://www.babysfirsttest.org/newborn-screening/conditions

Updated 6/14/2013

 


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