What is supplemental newborn screening?
The supplemental newborn screening study is a research project that identifies several metabolic disorders. These metabolic disorders are not currently a part of the mandatory routine screening that every baby receives while at the hospital. Participation in the supplemental newborn screening study is voluntary. In the hospital, you will be asked to sign a consent form to let the hospital staff know whether or not you want your baby to participate. Agreeing to participate means that the blood sample already taken for the mandatory routine screening will be tested for more disorders. If you participate, there is no additional cost to you, and it does not require taking any more blood from your baby.
Metabolic disorders affect the body’s ability to produce or break down compounds such as proteins, fats, or carbohydrates into smaller substances the body needs for energy, growth, and repair. Too much of certain substances or too little of others can cause major health problems. If identified early, some of these conditions can be treated before they cause serious health problems. Treatment may include the close monitoring of your baby’s health, medication, dietary supplements, or special diets. Metabolic disorders have varying degrees of severity. Some of the conditions identified by the study may not cause significant health problems or require treatment, while others, as of yet, have no truly effective treatment.
During the study, only unusual results will be reported to your baby’s pediatrician. Unusual results indicate that a disorder is suspected or additional testing is needed.
Your baby’s doctor will be contacted if there are any unusual results. Further evaluation will be needed to find out if your newborn has a disorder. Your baby will be referred to a doctor who specializes in the treatment of metabolic disorders. The specialist will examine your baby and possibly order more tests. If your newborn has a disorder, the specialist will assist you and your pediatrician in treating your baby’s special health care needs.
Supplemental screening may identify a metabolic disorder that is not included in the mandatory routine screening program. Early identification of a metabolic disorder may prevent death as well as physical and mental disability through effective treatment. Supplemental screening is provided at no additional cost during the study period. If further testing is required to identify a metabolic disorder in your baby, this diagnostic testing is usually covered by the project if possible. By participating in the study, you are helping the ICMR task force on Inborn metabolic disorders to determine which disorders to add to the mandatory routine screening program in the future. This screening will benefit newborns with these disorders as well as their families.
Treatment services are not covered by the ICMR task force on Inborn metabolic disorders. These services are usually covered by yourself. Approximately three out of every 1,000 newborns will have an unusual result. Most babies with unusual tandem mass spectrometry results (MS/MS) will not have a metabolic disorder. A small number of newborns with a metabolic disorder may not be identified by the MS/MS screening study. For these babies, treatment could be delayed until after symptoms appear. Be sure to tell your doctor if your baby does not appear well or seems to be developing more slowly than expected. If your baby’s blood sample is unsuitable for testing due to contamination, improper temperature submission, or other technical issues, supplemental (MS/MS) screening will not occur. A new blood sample will be collected by the hospital and then only mandatory routine screening will occur. Your baby’s doctor will be notified of any specimen that is unsuitable for testing and can arrange a retest for supplemental (MS/MS) screening at your request.