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What should I know about newborn screening?

Below are some frequently asked questions. If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Related Links page or contact us with your specific question.




What is Newborn Screening?
Our state law requires that all babies born in Washington be tested for congenital disorders before they are discharged from the hospital of birth. Babies born at home must be tested within the first week of life.
Before your baby leaves the hospital, the baby's heel is pricked. Several drops of blood are collected on a filter paper card, dried and sent for testing to the Washington State Newborn Screening Laboratory in Shoreline, WA.



Why is my baby tested?
The NBS program detects inherited problems in newborn babies. If left untreated, these problems can lead to slow growth, blindness, brain damage and possibly death. A newborn baby may look perfectly healthy, but still have an inherited disease. Finding these problems early and treating them promptly prevents many serious complications.



Why should my baby have a second screen?
The first test finds most of the babies with conditions on our panel, but it takes a while for some conditions to show up. That is why a second screen at about 7 to 14 days is very important for your baby.



As a parent, may I refuse to have the test done?
You may refuse the test only if your religious beliefs and practices do not allow them. If you refuse to have the tests done, you must sign the back of the Newborn Screening Card which states that you refused to have your baby tested for the inherited problems. You have the right to ask your doctor or certified nurse midwife to discuss the screening process and to provide the screening result to you.



What tests are performed on my baby's blood?
In Washington, babies are tested for the following disorders:

Amino Acid Disorders
Argininosuccinic acidemia (ASA)
Citrullinemia (CIT)
Homocystinuria (HCY)
Maple syrup urine disease (MSUD)
Phenylketonuria (PKU)
Tyrosinemia type I (TYR-I)

Fatty Acid Disorders
Carnitine uptake deficiency (CUD)
Long-chain L-3-hydroxy acyl-CoA (LCHAD) deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Trifunctional protein (TFP) deficiency
Very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency

Organic Acid Disorders
3-hydroxy-3-methylglutaric aciduria (HMG)
Beta-ketothiolase deficiency (BKT)
Glutaric acidemia type I (GA-I)
Isovaleric acidemia (IVA)
Methylmalonic acidemias (CblA,B and MUT)
Multiple carboxylase deficiency (MCD)
Propionic acidemia (PROP)

Other disorders
Biotinidase deficiency (BIOT)
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism (CH)
Cystic fibrosis (CF)
Galactosemia (GALT)
Hemoglobinopathies (Hb)




How can I find out about the results of my baby's newborn screen?
Your baby's doctor will receive the report of the tests, usually 5 - 7 days after the sample is collected. Make sure to ask about the results of your baby's newborn screen.



My baby has a negative test. What does that mean?
A negative test means that your baby probably does not have one of the inherited disorders tested for by newborn screening. No test is 100 % accurate. There is a slight chance that a test will show a negative result when there is a problem.



My doctor asked for another sample because this first one was unsatisfactory. What does that mean?
All samples are examined in the testing laboratory for sample acceptability. Samples considered unsatisfactory may not have enough blood to perform all the tests, may have been collected improperly, or may have been delayed in the mail. Follow your doctors instructions on where to go to have another sample collected.



My baby has a positive test. What does that mean?
If one of your baby's tests is positive, the doctor may repeat the Newborn Screening test or request another type of blood test. If an inherited problem is found, your baby's doctor will discuss the next steps with you; this may include genetic counseling.



Test results show my baby is a carrier of the gene for an inherited disease. What does that mean?
A carrier is someone who does not have the disease itself, but can pass it to their children. A baby who has sickle cell trait is a carrier of a gene for sickle cell disease. These babies tend to be as healthy as babies who are not carriers
The parents should discuss the meaning of being a carrier with their doctor or genetic counselor.



Can my baby be screened for more disorders (Additional Screening)?
For people interested in having screening done in addition to the disorders screened for by this program, please see the Laboratories that Offer Testing for Additional Newborn Disorders section on the  Related Links page for four organizations that offer this service (Baylor Health Care System, Mayo Clinic, Pediatrix Screening & University of Colorado).. 


Where can I get more information to assure my baby receives the best possible start?
The Washington State Department of Health offers many services, in addition to the Newborn Screening Program, that can help your baby receive the best possible health care. To learn more about these DOH services and other state services please see the Maternal & Child Health or Center for Health Statistics pages or the Child Protection & Safety page from the Department of Social & Health Services. For other organizations that provide useful information, please see the General section of the Related Links page.

PLEASE NOTE: Washington law prohibits health insurers from discriminating against anyone based on positive results on a genetic test. In addition Washington law does not allow the use of genetic testing results in employment.

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Washington State Department of Health
Newborn Screening Program
1610 NE 150th Street NE
Shoreline, Washington, 98155

Last Update : 07/07/2009 03:37 PM
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