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Newborn Screening - SCID Frequently Asked Questions

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About SCID

The immune system is the body’s line of defense against all types of infections. During pregnancy and shortly after birth, a baby is protected from infections by compounds received from their mother’s immune system. Usually, as babies grow their immune systems develop so that their own bodies are able to fight infections, but sometimes babies have problems with their immune systems working properly. This problem is called an immunodeficiency disorder.

One of the most serious and life-threatening forms of an immune system problem is called Severe Combined Immunodeficiency Disorder (SCID). SCID is a group of disorders with genetic causes that can occur in about one in 40,000 to one in 100,000 newborns. Although rare, SCID can be successfully treated if identified early in life. If not treated, most of the affected infants die within the first year of life.

Early diagnosis of an immunodeficiency allows for quick treatment and can dramatically improve the baby’s health. This may be detected through a newborn screen test in which a heel stick blood sample is collected. Newborns in Texas have a newborn screen test shortly after birth (24-48 hours of age) and again at one to two weeks of age. This test is sent to the Newborn Screening (NBS) Laboratory.

 
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Information on SCID
Question:

What Are the Common Symptoms?

Answer:

Infants with SCID appear healthy at birth, but usually between 3 to 6 months, symptoms start to develop.  The most common symptom is regular infections.  A baby with SCID may have infections that are more serious than in a normal baby, and he/she may not respond to medical treatment as well as other infants do.  They may have poor growth, have more skin infections, infections in their mouths, diaper rash, sinus and ear infections, and constant diarrhea.  They may develop meningitis and pneumonia.  Without proper treatment many babies with SCID die.  However, with a newborn screening test for SCID, earlier diagnosis may be possible.

   
Question: How is SCID Diagnosed?
Answer:

Doctors specializing in treating disorders of the immune system can help with the diagnosis. They check the baby’s the immune system, take a family medical history, a physical exam and blood tests. Since SCID is a genetic problem, it can be found in several members of the same family. A family history of SCID may alert the doctors to a diagnosis before the baby develops symptoms. However, babies may have SCID even if no one in their family has had SCID.

Blood test results can show if the infant’s immune system is not working properly. Early diagnosis is important because the treatment is most effective within the first 3 months of life. Newborns with SCID can have a healthy immune system if they get care very early in life. When there is no family history of SCID, children are often not diagnosed until 6 months of age, or older.

   
Question: What treatments are available for SCID
Answer:

In order to stop infections in children with SCID, doctors may prescribe antibiotics, and advise keeping the child away from sick people and crowds.  They may also give special treatments to help children fight infection.

A bone marrow transplant is the best treatment for SCID.  A transplant is usually done using the bone marrow of a brother or sister of the child with SCID, although a parent’s bone marrow might also be used.  Some children may not have family members who are able to donate bone marrow, doctors may be able to use bone marrow from other donors.  The sooner a transplant is done (within the first few months of life), the better the chances are for success.

Some types of SCID are caused by a missing enzyme. In these cases, weekly injections of the enzyme may be given. However, this is not a cure and children must receive the injections for the rest of their lives.

   
Question: What about genetic counseling for SCID?
Answer:

If parents have a child with SCID, a family history of SCID, or another immunodeficiency disorder, they may be referred for genetic counseling. Early diagnosis of an immunodeficiency allows for quick treatment and can improve the baby’s health. If the genetic problem causing SCID is found through testing and/or family history, then it may also be possible to test the baby before birth, which can lead to early treatment.

 
General Newborn Screening questions
Question: How is the newborn screen test done?
Answer: About 24 to 48 hours after birth or before leaving the hospital, a tiny amount of blood is taken from the baby's heel and dropped on filter paper. A second blood sample is taken when the baby is 7 to 14 days old. All blood samples are sent to the state health laboratory in Austin for testing.
   
Question: How long will it take for me to find out the results of the newborn screen test?
Answer:

If your baby’s screen is normal, a result will be mailed to the birthing hospital.  Hospitals typically receive normal results 2-3 weeks after birth.

If the screen is abnormal, information is sent as soon as a laboratory result is available, typically within 7-10 days. Your baby’s primary care physician will notify you with results and to provide further instructions.
   
Question: How is the newborn screen test paid for?
Answer: The hospital, physician or health care provider buys the specimen collection kit and bills the insurance company for private pay patients. Government funded Medicaid, CHIP, and Title V programs cover the costs for individuals enrolled in their programs.
 
 
Questions about the SCID study
Question: How accurate is this testthe consent says you’re just evaluating a screening test?
Answer: The test is accurate; two other states already use this method to screen for SCID. However, this study is needed to identify ways to adapt the test for screening a large number of specimens.
   
Question: What does it mean that SCID is a rare disorder?
Answer: It means the disorder does not affect many babies. Only 1 baby out of 40,000 to 100,000 will likely have the disorder.
   
Question: What is the chance that my baby will have SCID?
Answer: The chances are very small. Only 4-6 babies of the 400,000 born in Texas each year are likely to have SCID.
   
Question: Will I find out the results of the SCID test?
Answer:

If the screen is abnormal, your baby’s physician will be notified as soon as a laboratory result is available. He or she will notify you with results and to provide further instructions. A pediatric immunologist will also be notified of abnormal SCID screen results.

If the screen is normal, you will not be notified.

   
Question: If the SCID screen is not normal and more testing must be done, does it mean that my baby has SCID?
Answer: No, an abnormal screen only means that your baby needs more testing to double-check for possible problems. Your doctor may send you to another doctor who specializes in this disorder for more testing.
   
Question: If I refuse this study will my baby still have the newborn screen?
Answer:

Yes – The newborn screen is given to every baby born in Texas.

   
Question: Why is part of the specimen being tested in Massachusetts?
Answer: The Texas and Massachusetts Newborn Screening Programs are working together on this project. The Massachusetts Program has more experience with the testing, and they will be training the Texas laboratory staff. Some specimens will be tested by both programs during the training period.
   
Question: Whom do I contact if I have more questions?
Answer: For questions related to the SCID screening study or general newborn screening, please call 1-800-252-8023 ext. 2129.
   
   

Note: External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may also not be accessible to people with disabilities.

Last updated February 08, 2011