About Newborn Screening • Newborn Screening Facts - A brief introduction to the most important information on newborn screening. • Genetics and Family History - Information on why it is important for all babies to have newborn screening, even if there isn’t a family history of a condition, and how genetic conditions are inherited. • Screening Resources - A brief description and links to several government and non-profit agencies working to improve health through newborn screening. • Conditions Screened by State - Every state has slightly different requirements for newborn screening. This section reviews factors that influence how states choose their screening panels and how to find out more information.
What to Expect Newborn screening is just one of many things that happen in the first few days after a baby is born. The following information will help prepare expecting parents for the newborn screening process and answer common questions. Links to resources are also provided for a more in-depth look into the newborn screening process.
Every baby can be screened Each year, over 5,000 babies are born with one of the conditions included in state newborn screening panels. Most of these infants appear perfectly healthy at birth and come from families with no history of the disorder. Unfortunately, once symptoms appear, they are often irreversible, leading to severe health and developmental problems or even death. Every baby born in the United States is required by law to undergo newborn screening prior to leaving the hospital because it is the only way to tell if a seemingly healthy infant has one of these rare, but serious, conditions. Most affected babies identified through newborn screening who receive treatment early grow up healthy with normal development.
Newborn Screening Process • Before Birth - Seven things parents want to know about newborn screening. • Screening Procedures- The who, what, when, where, why and how of newborn screening. • Responding to Results - Questions to ask a baby’s doctor if a baby receives an out-of-range newborn screening result. • Screening Outcomes- Information on possible results from newborn screening and what to do next. • What Happens to the Blood Sample - An overview of what happens to the remaining blood sample taken during newborn screening.
Living with Conditions Learning through newborn screening that your child has a rare health condition can feel overwhelming. In most cases, no other member of your family has had this condition. You may not know where to begin looking for information. After you work with your child’s doctor to determine a care plan, you may want to begin thinking about what it means to have a child living with this condition both now and in the future. The information in this section can provide resources, support, and guidance for families as they begin this process. Take a look around. We look forward to adding your story and experiences to the many voices found here.
Living with Conditions • Family Experiences - Learn from other families, in their own words, what their journey has been like after a diagnosis. • Talking About a Diagnosis - Find tips for sharing information about the diagnosis of your child and things to consider prior to sharing. • Advocacy and Support Groups - Connect with others to share stories, encourage each other, and advocate for a better future for all children. • Find a Specialist - Get links to find specialists for your child’s medical needs. • Insurance and Planning - Access important resources and read about things to consider, in terms of your child's health, from a financial perspective. • Looking to the Future - Prepare for changing doctors, navigating the school system, and being ready for emergencies.
Health Professionals Health care professionals are often the first and most trusted resources for information and answers about newborn screening. There are many different kinds of health care professionals who serve families in the pregnancy planning, pregnancy, and postpartum periods: obstetricians and gynecologists (OB/GYNs), nurses, childbirth educators, doulas, midwives, pediatricians, family physicians, and more. All can serve as resources for questions about newborn screening. This section provides up-to-date and relevant information on some of the most commonly asked issues surrounding newborn screening, so health care professionals can be prepared to answer questions from their patients and clients.
Health Professionals • Prenatal Health Care Providers- Information tailored for prenatal providers on topics such as how to talk to expectant parents about newborn screening and what common questions parents have prior to screening. • Pediatric Health Care Providers- Links to ACMG ACT sheets for conditions included in newborn screening, confirmatory testing algorithms for positive screening results, and a checklist of basics to cover with parents whose baby has received a positive screening result. • Dried Blood Spot Storage and Use- A review of common questions asked about dried blood spot storage and usage as well as links to state-specific information.