What is Newborn Screening?

Newborn screening (NBS) is the practice of testing every newborn for certain harmful or potentially fatal disorders.

 

Why Does Every Newborn Need To Be Screened?

Newborn screening can quite literally save a child’s life, so there is no reason not to do it.

• The disorders aren’t otherwise apparent (symptomatic) at birth, but the blood tests may give off the reality inside. Most babies with the disorders included in newborn screening look and act normally and seem perfectly healthy.
• These conditions that qualify in the NBS test are all rare but maybe inherited.
• If the test results are positive for something harmful – with a simple blood test, doctors can guide you what to do next from the very first day.
• Early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development.
• Parents who have no family history of these conditions and/or who have already had healthy children can still have children with these conditions. In fact, most children with these conditions are born into families with no history of the condition.
• For your own peace of mind: You can be at peace knowing nothing can befall them in adulthood that you could have ruled out in their infancy.

If your baby was not born in a hospital or was not screened before leaving the hospital, take him or her to the doctor’s office or hospital to be screened as soon as possible.

 

What Disorders Qualify In The NBS Criteria?

Most of the conditions included in newborn screening can cause serious health problems if treatment is not started shortly after birth. The tests are organized into broad categories:

• Metabolic disorders (e.g., phenylketonuria, PKU)
• Endocrine disorders (e.g., congenital hypothyroidism [CH] and congenital adrenal hyperplasia [CAH])
• Hemoglobin disorders (e.g., sickle cell anemia)
• Other disorders (e.g., cystic fibrosis, severe combined immunodeficiencies (SCID))

 

When Do You Need A Genetic Counselor?

You may need a geneticist or genetic counselor when you may answer the following questions with a yes:

• Do you have a family history of an inherited disorder?
• Have you previously given birth to a child who’s affected by a disorder?
• Did an infant in your family die because of a suspected metabolic disorder?
• Do you have another reason to believe that your child may be at risk for a certain condition?

So if a metabolic condition runs in your family then DON’T waste your precious time – visit a doctor who has knowledge about the field of Genetics or they may connect you with such people. We – at ZB Foundation – can help you with this. Please email us soonest if you want help.

 

How Is NBS Done?

• Heel Prick Test:
  • In the first 2 or 3 days of life, your baby’s heel will be pricked to get a small blood sample for testing. Most states of USA have a state or regional laboratory do the analyses, although some use a private lab. It’s generally recommended that the blood sample be taken after the first 24-72 hours of life.
  • However, because mothers and newborns are often discharged within a day, some babies may be tested within the first 24-72 hours. If this happens, experts recommend that a repeat sample be taken no more than 1 to 2 weeks later.
• Testing:
  • The samples should reach the testing lab within 7 days of sample/specimen collection to assure the accuracy of results and to avoid false-positive results.
  • The total test duration is 4 hours and 20-30 minutes which can be divided into initial stage of 20 minutes and 4 hours and 10 minutes of final stage.

 

Results

Different labs have different procedures for notifying families and doctors of the results. Some may send the results to the hospital where your child was born and not directly to your child’s doctor, which may mean a delay in getting the results to you. Ask your doctor how you’ll get the results and when you should expect them.

If a test result comes back abnormal, try not to panic. This does not necessarily mean that your child has a disorder. A screening test is not the same as diagnostic test. The initial screening provides only early information that must be followed up with more specific testing.

If testing confirms that your child does have a disorder, your doctor may refer you to a specialist for further evaluation and treatment. Keep in mind that dietary restrictions and supplements, along with proper medical supervision, often can prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.

You also may wonder whether the disorder can be passed on to any future children. Talk with your doctor and perhaps a genetic counselor. Also, if you have other children who weren’t screened for the disorder, consider having testing done.

 

When Does Your Baby Need A RETEST?

There are several reasons why your baby may need a second NBS. If there is not enough blood on the card or if the screening is difficult to interpret, the laboratory staff may ask for a second blood card. If there are mild abnormalities on the first screen, for either blood or hearing screening, a second screen may be requested to confirm the result.

If the first screen suggests higher risk for a condition in your baby, the doctors will ask for blood and possibly urine samples to do special testing for the condition of concern. And some states of USA routinely do a second newborn screen on all babies. Whatever, the reason, being asked to have a “retest” done does not necessarily mean your baby has a disorder, but it is possible. If you are asked for a retest, it is important that you take your baby for the retest as soon as possible.

 

Treatments:

The kind of treatments your baby might get can be:

• For other conditions, your baby might need to take medicine. Babies with hypothyroidism do not make enough thyroid hormone and without treatment can have slowed growth and brain damage. Taking thyroid hormone medication shortly after birth can prevent these problems.
• Although treatments for some conditions are more complicated, it is still helpful to know about the condition early. A baby with sickle cell disease is at risk for harmful infections. Identifying these babies right away means that they can receive a daily dose of penicillin, an antibiotic medicine, to help avoid infections and prevent serious problems.

 

NBS in Pakistan         

Newborn Screening has been taken up as project by few universities in Pakistan but has never been commercialized before. The ZB Foundation has been set up by its founders few years back and the lab has become functional since 2016. Test for Congenital Hypothyroidism is performed at hand, with more tests to be added in future. We have tested above 6600 babies so far and found 5 positive cases for CH. A major contributable factor is cousin marriage.

 

What If Your Baby’s Doctor Doesn’t Know About Additional Newborn Screening?

Although we at The ZB Foundation are trying to cover the whole Pakistan – because NBS is not available everywhere, your doctor may not know about it. Be prepared to supply your doctor with information by:

• Yourself: educate them yourself about NBS and ZB Foundation.
• Let us do it for you: Give them contact number of ZB Foundation’s Islamabad office and let them talk to anyone from clinical team. Also – let ZB team guide you to a nearby NBS unit.
• Spread the word: Help The ZB Foundation in this cause so that no medical practitioner is left in Pakistan who doesn’t know about it. Do your role!

 

For more information on NBS –

You can inbox us on FB page of The ZB Foundation or you may explore:

• Baby’s First Test http://www.babysfirsttest.org/
• Saving Babies Through Foundation http://www.savebabies.org/
• Baby Center https://www.babycenter.com/0
• National Newborn Screening and Global Resource Center   http://genes-r-us.uthscsa.edu/