First Step Newborn Screening Test is done 24 hours AFTER a baby is born to identify serious Metabolic Disorders (IEMs or Inborn Errors of Metabolism) the baby might have been born with. These disorders if undetected and untreated can have adverse consequences for your baby’s health. If a baby is born with a disorder, a Newborn Screening Test helps detect the disorder early so treatments can start before the disorder causes any harm to your baby.
These disorders are inherited and cannot be prevented but they are TREATABLE. Even healthy looking babies and those with no family history of such disorders may have them. If a baby is born with a disorder, early detection and treatment is the only solution. Failure to start the treatment in time may result in mental retardation, physical disability or even death.
The test is done by performing a painless heel prick on the baby and collecting a few drops of blood, 24 to 72 hours after birth. This sample is sent to NeoGen Labs for testing. Results are normally out within 5 days.
First Step will screen for the following Inborn Errors of Metabolism (also known as Metabolic Disorders) by Tandem Mass Spectrometry and Biochemical Analysis. Newborns are screened from a dried blood spot, ideally collected within 24 to 72 hours of birth.
FREQUENTLY ASKED QUESTIONS (FAQS)
Q. What is First Step Newborn Screening (NBS) Test?
A. First Step tests babies for serious disorders and is usually performed when your baby is 24 – 72 hours old. Ideally, the specimen should be sent to the laboratory by the fastest way possible to prevent delay.
Q. Why is the First Step test done?
A. First Step is done to find out if your baby has a disease or disorder for which early treatment can prevent death, mental retardation, or physical disability.
Q. How is the First Step test performed?
A. First Step is performed by pricking a baby’s heel and putting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory where several different tests will be performed.
The heel prick feels no worse than being stuck by a pin. Problems from the prick, such as infection of the heel, are very rare.
Q. But we have no family history of these disorders…
A. Parents who have no family history of problems and/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.
Genes for these disorders can be passed along through generations of healthy people without anyone ever knowing about them. These “carriers” are healthy because the normal gene in the pair (genes come in pairs one from each parent) is working, making up for the flawed gene. However when two people who coincidently carry the same flawed gene get together, their risk of having an affected child is 25% for each pregnancy. This pattern, called recessive inheritance, explains how most metabolic diseases appear unexpectedly.
Q. But my baby looks healthy…
A. Most babies with disorders look and act normal and seem perfectly healthy. The newborn screening test helps your doctor catch a problem with your baby before it makes him or her sick. Most babies who are diagnosed and treated early do well. The earlier the disorder is detected, the higher the chance of having a good prognosis.
Q. What is a Retest?
A. If the result of your child’s test is abnormal, a repeat test or a “retest” is usually required. A request for a retest does not necessarily mean your child 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.
Q. How will I know the results of my baby’s test?
A. Generally, parents and doctors are notified of the test results. However, it is a good idea to call your doctor or NeoGen Labs and request the results if you have not received it within 2 weeks of the test. This is important to ensure that your child’s test results have not been lost or misplaced.
If your child’s test shows an abnormal result, you will be notified immediately and given directions about what to do next. Follow the directions of your doctor very carefully. If your child’s test is abnormal, additional tests are usually necessary to verify if your child has the disorder. It is important that you advise your doctor if you move or change phone numbers soon after your baby is born in case there is a problem with your baby’s test.
Q. What does a positive result indicate?
A. Parents should not be alarmed by positive results as the screening gives only preliminary information, albeit with a high degree of accuracy. It should be followed by a precise confirmatory test.
Q. What exactly are Inborn Errors of Metabolism (IEM)?
A. These are disorders caused by the accumulation of chemicals produced naturally in the body to abnormal levels. The symptoms manifest themselves in a variety of ways; slow physical development or mental retardation. In some cases, they could result in death. Unfortunately, most infants with these disorders show no signs of these conditions. If these disorders are detected at birth by NBS, the child can lead a normal, healthy life.
Q. How can these disorders be cured?
A. These disorders have no cures and are inherited. The symptoms and effects can be mitigated if they are detected and treated early, leading to a normal and healthy life.
Q. Can Newborn Screening be performed on older children or adults?
A. Yes. Older children or adults also can be screened.
Q. Will Newborn Screening by NeoGen Labs detect all disorders?
A. The analyses conducted produce results that can be used by qualified physicians in the diagnosis of IEMs. Evidence of these disorders will be detected in the vast majority of affected individuals; however, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient, and other variables, such disorders may not be detected in all affected patients.