For over 50 years, newborn screening has allowed for timely detection, diagnosis, intervention, and management of rare medical conditions. Newborn screening is regarded as one of the most successful public health initiatives of the past century, with tremendous reach and impact on the healthy development of children across the country beginning in the first few days after birth.
A lthough the newborn screen itself is just one point in time—more specifically, 24 to 48 hours after birth—its influence on that child's future health and wellbeing is long-lasting. The majority of the nearly 4 million babies screened annually in the United States are found to be healthy, with no conditions detectable by existing screening tests. However, for 1 in 300 babies, newborn screening carries life-changing potential. The overwhelming majority of babies flagged on newborn screens, and later diagnosed, go on to live normal, healthy lives and meet expected developmental milestones.
Some newborn screening conditions have well-understood natural histories and treatment protocols, while other conditions are relatively new to the public health and healthcare systems in a population screening context. In either case, monitoring and management of special medical needs extends beyond infancy for many children affected by newborn screening disorders. Depending on the condition, healthcare professionals may prescribe children special diets and medication, refer them to medical subspecialists and early intervention services, and/or conduct periodic testing according to established standards of care.
If you are a newcomer to the newborn screening community and unsure where to start, Baby's First Test (BabysFirstTest.org) is a great entry point. Baby's First Test, which houses the nation's newborn screening clearinghouse, promotes awareness, knowledge, and understanding of newborn screening at the local, state, and national levels. Baby's First Test is dedicated to providing support and education through the newborn screening experience for parents, family members, health professionals, and the general public. Contact: info@babysfirsttest.org
For 1 in 300 babies, newborn screening carries life-changing potential. the overwhelming majority of babies flagged on newborn screens, and later diagnosed, go on to live normal, healthy lives and meet expected developmental milestones.
RESOURCES
I. Fundamentals of Genetics, Inheritance, and Family History
Most conditions detected through newborn screening are genetic, which means they originate in the units of inheritance that serve as a guidebook for our cells. These units are known as genes. Disease-causing changes to functional gene copies can either be inherited, meaning passed from parent to child, or de novo, meaning spontaneously occurring. Newborn screening conditions can arise in any family, even those with no family history. The resources below provide a useful overview of the basics of genes, how genetic traits are passed down within families, and how a family health history can help parents know what conditions to look out for as their child grows and develops.
• Help Me Understand Genetics (National Institutes of Health, National Library of Medicine, Genetics Home Reference)
The National Institutes of Health (NIH) is a U.S. government agency under the Department of Health and Human Services (HHS) concerned with biomedical and public health research.
It conducts and funds many genetic research studies. Its Genetics Home Reference library and its "Help Me Understand Genetics" section introduce basic genetics topics in consumerfriendly language, from chromosomes to innovations in gene therapy.
ghr.nlm.nih.gov/primer • Genetics and Family History (Baby's First Test) babysfirsttest.org/newborn-screening/screening-community
II. What to Expect From The Newborn Screening Experience
All babies are screened at birth, but many families are unaware of the newborn screening process or that it happened to their child. For many parents, pregnancy, delivery, and the period following is a dizzying time of tests, routine procedures, behavior changes, and unfamiliar information. Couples who plan to get pregnant or are already expecting a baby may find it reassuring to have information before the screen takes place about the steps of the newborn screening process, how it differs from prenatal screening tests, and how to follow up with their baby's healthcare professional about results.
• Newborn Screening Education and Training Resource Center (Baby's First Test)
Baby's First Test's Resource Center helps new and expecting parents, the public, healthcare professionals, states, and policymakers find the newborn screening resources they are looking for in a central location, including infographics, brochures, webinars, training videos, and more. Users can also order and download Baby's First Test ma t e r i a l s on l i ne for free.
n "Prenatal & Newborn Screening Tests" brochure: babysfirsttest.org /newborn-screening/resources/prenatal-and-newborn-screening-brochure
n "What to Expect for Your Baby's First Test" infographic: n babysfirsttest.org/newborn-
n babysfirsttest.org/newborn- screening/resources/what-to-expect-from-your-babys-first-test-infographic "What to Expect for Your Baby's First Test" animated video (2:22 runtime) babysfirsttest.org/newborn-screening/resources/what-to-expect-from-your- babys-first-test
• Before Birth (Baby's First Test) babysfirsttest.org/newborn-screening/before-birth
• Conditions Screened by State (Baby's First Test) babysfirsttest.org/newborn-screening/states
• Ask an Expert (Baby's First Test)
• Expecting Health
Expecting Health is a comprehensive, one-stop-shop for information and resources on pregnancy, parenting, and beyond. Grounded in real science and evidence-based research, Expecting Health provides women and families with the most current tools and information – from planning a pregnancy to early infant care–when it's most needed. ExpectingHealth.org will launch in early 2018. expectinghealth.org
• Newborn Screening Tests for Your Baby (March of Dimes) March of Dimes is a national non-profit organization committed to educating the public and health professionals about the best practices for healthy pregnancy. They have made significant strides in uncovering the genetic causes of birth defects and are best known for their campaign to fight premature birth. This page offers an overview of newborn screening tests and the conditions they can detect.
marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx • Learning About Newborn Screening video (March of Dimes) youtu.be/iY7EdRjmc6M
Paying for Newborn Screening
• Who Pays for Newborn Screening? (NIH, National Library of Medicine, Genetics Home Reference)
• The newborn screening fee and how the associated costs are covered depends on the state. For information about your state, visit babysfirsttest.org/newborn-screening/states.
III. Special Circumstances In a Newborn Screening
Just as every baby's heel-print and smile is unique, so is each family's journey to bringing that baby into the world. While many women give birth in hospitals to full-term babies, this is far from the universal experience. This section provides resources targeted to families whose experiences with pregnancy, birth, and taking a baby home differ from the "conventional" story.
Home Births
• Screening Procedures: Home Births (Baby's First Test)* babysfirsttest.org/newborn-screening/screening-procedures#HomeBirths
• Some state newborn screening program websites have additional information about the screening process for mothers and babies under the care of a midwife. To find your state program's page, visit babysfirsttest.org/newborn-screening/states.
Premature Births & The Neonatal Intensive Care Unit (NICU)
• Screening Procedures: Newborn Screening in the NICU (Baby's First Test) babysfirsttest.org/newborn-screening/screening-procedures#Preterm
• Common Tests in the NICU (March of Dimes) marchofdimes.org/complications/common-tests-in-the-nicu.aspx
Adoptions
• Screening Procedures: Adoption (Baby's First Test)* babysfirsttest.org/newborn-screening/screening-procedures#Adoption
Newborn Screening For Military Families
• Screening Procedures: Military Families (Baby's First Test) babysfirsttest.org/newborn-screening/screening-procedures#military
IV. Additional (Supplemental) Newborn Screening
Because newborn screening policies are implemented at the state level, not every state screens for every condition for which a test exists. If you have concerns about a heightened risk for a particular newborn screening disorder due to personal or family history, it's a good idea to speak with your healthcare professional about the options for pursuing additional screening. Several private laboratories offer supplemental newborn screening panels that may or may not be covered by the family's insurance. Supplemental screening is separate from the newborn screening conducted by the state health department. The pages below offer information about what conditions each states screen for and how to seek additional screening.
• Conditions Screened By State (Baby's First Test) babysfirsttest.org/newborn-screening/states
• Additional Screening (Baby's First Test) babysfirsttest.org/newborn-screening/conditions#2
V. After the Newborn Screen
An abnormal or out-of-range newborn screening result does not lead to a diagnosed condition 100% of the time. It's also important to remember that the screen is not a confirmation of a condition nor a diagnosis. The screen is only one of many steps that state public health workers and healthcare professionals take to ensure that conditions are caught and treated as early as possible. With that in mind, false positive results are a possibility. No matter the result of the newborn screen, it is important for families to follow up with their baby's healthcare professional about any recommendations or questions about the screen.
• Your Baby's Screening (Baby's First Test) babysfirsttest.org/newborn-screening/your-babys-screening
• What Happens If a Newborn Screening Test Comes Back Positive? (NIH, National Library of Medicine, Genetics Home Reference) ghr.nlm.nih.gov/primer/newbornscreening/nbspositive
• False Positives (Baby's First Test) babysfirsttest.org/newborn-screening/false-positives
VI. Living With Conditions: Family Stories & Connecting With Other Families
It can be overwhelming to learn through newborn screening that your child has a rare health condition. For many affected fam ilies, no other member of your family has had this condition. You might not know where to start looking for information. After you work with your child's doctor to determine a care plan, families may begin thinking about what it means to have a child living with this condition both now and into the future. The resources below are designed to facilitate connections between families and help them determine the next steps in obtaining support.
• Find a Condition (Baby's First Test) babysfirsttest.org/newborn-screening/conditions
• Living With Conditions (Baby's First Test) babysfirsttest.org/newborn-screening/talking-about-a-diagnosis
• Family Experiences (Baby's First Test)* babysfirsttest.org/newborn-screening/family-experiences
• Newborn Screening Public Square (Baby's First Test) The Newborn Screening Public Square is an online, open space dedicated to topics and ongoing dialogue about newborn screening. Parents, health professionals, educators, researchers, and anyone else interested in newborn screening are invited to join in the conversation. babysfirsttest.org/newborn-screening/public-square
• Newborn Screening MinneStories (Minnesota Department of Health) MinneStories is a project to record and preserve the stories of Minnesota families with conditions that can be identified by newborn screening, with the goal of better understanding how newborn screening affects the lives of people all around us. health.state.mn.us/divs/phl/newborn/families/minnestories.html
• Family Newborn Screening Stories (CDC) flickr.com/photos/cdcsocialmedia/sets/72157633432845517/with/8719503021
• Family Stories (Association of Public Health Laboratories) The Association of Public Health Laboratories (APHL) works to strengthen laboratory systems serving the public's health in the United States and globally. APHL represents state and local governmental health laboratories in the U.S., including those that process newborn screening specimens. This page from APHL's blog features a number of newborn screening from families, sorted by condition. aphlblog.org/2014/09/family-stories-are-the-best-way-to-grasp-the-value- of-newborn-screening/
• Family Stories (Iowa Department of Health) slh.wisc.edu/clinical/newborn/family-stories
Condition-Specific Patient Organizations
Patient and advocacy organizations serve as hubs for families looking to connect with common resources and with one another. They house directors of providers and centers that specialize in the condition, as well as guidance for benefits counseling and care coordination services. They may also provide information about clinical trials, registries, and developments on the latest treatments and outcomes. Additionally, family stories promoted through these organizations can also supply hope, support, and practical strategies for families facing similar obstacles due to their child's special health needs. The list of groups below is not exhaustive, but covers many of the most prominent organizations in the U.S. serving families affected by the common newborn screening conditions and types of conditions. • National PKU Alliance: npkua.org
• Cystic Fibrosis Foundation: cff.org
• Association for Glycogen Storage Disease: agsdus.org
• Acid Maltase Deficiency Association: amda.org
• Immune Deficiency Foundation: primaryim- mune.org
• MPS Society: mpssociety.org
• ALD Connect: aldconnect.org
• Organic Acidemia Association: oaanews.org
• Sickle Cell Disease Association of America: sicklecelldisease.org
• Fatty Acid Oxidation Disorders (FOD) Family Support Group: fodsupport.org
• American Heart Association: heart.org
• Hands & Voices: handsandvoices.org
• Alexander Graham Bell Association: agbell.org You can find additional condition information and list of support groups through Disease InfoSearch: diseaseinfosearch.org
VII. Newborn Screening Policy & Advocacy
Many advocates in the newborn screening realm began their journey as parents to children with special healthcare needs. For those seeking ways to get involved in enacting legislation, expanding the conditions included on state or federal newborn screening panels, or advocating for children diagnosed with newborn screening conditions, this section lists resources on newborn screening policy and outlets
• "How States & Family Advocates Work Together" webinar (Baby's First Test and Minnesota Department of Health) babysfirsttest.org/newborn-screening/resources/how-states-family-advocates- work-together
• The Recommended Uniform Screening Panel (Baby's First Test) babysfirsttest.org/newborn-screening/the-recommended-uniform-screening-panel
• Interactive National Maps (Baby's First Test) bit.ly/national-conditions-maps
• Newborn Screening Legislation (Baby's First Test) babysfirsttest.org/newborn-screening/newborn-screening-legislation
• Nominate a Condition to the RUSP (Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), Health Resources and Services Administration (HRSA)) hrsa.gov/advisory-committees/heritable-disorders/rusp/nominate.html
• March of Dimes Action Center (March of Dimes) actioncenter.marchofdimes.org/home?3
• EveryLife Foundation for Rare Diseases: Newborn Screening Program
The EveryLife Foundation for Rare Diseases bridges the rare disease patient community with policymakers and industry partners developing life-saving therapies. Their newborn screening initiative seeks to provide legislative support to states so that they begin screening for recommended conditions within a set time frame and create resources for families and organizations to help add new diseases to the RUSP and state panels. everylifefoundation.org/newborn-screening
• Some states with newborn screening advisory boards or committees have information on their websites for parents interested in getting involved with state-level newborn screening policy. Visit your state's profile on Baby's First Test (babysfirsttest.org/newborn-screening/states) to learn more.
VIII. Transitioning to Childhood & Adulthood
Transitions from infant to pediatric to adult care can be challenging. Thankfully, there is a wealth of organizations, many family-run, that are poised to assist families in ensuring continuity of care and access to necessary medical, educational, and social services. The resources listed below can provide a starting point for families seeking guidance and support for families as they navigate the process.
• Family Voices Family Voices aims to achieve family-centered care for all children and youth with special health care needs (CYSHCN) and/or disabilities. Through national grassroots network, they provide families tools to make informed decisions, advocate for improved public and private policies, build partnerships among professionals and families, and serve as a trusted resource on health care. Family Voices' policy arm actively advocates for federal legislative and regulatory policies that will benefit CYSHCN and their families. familyvoices.org
• Family-to-Family Health Information Centers (F2F HICs) F2F HICs are family-staffed organizations that assist families of CYSHCN and the professionals who serve them. F2F HICs provide support, information, resources, and training around health issues. Some F2F HICs are independent nonprofits; others are part of collaborative nonprofit organizations or state agencies. All F2F HICs have a strong commitment to and expertise about CYSHCN. On this page, learn more about their work and how to find your local F2F HIC. fv-ncfpp.org/f2fhic/about_f2fhic
• The Catalyst Center The Catalyst Center, out of the Center for Advancing Health Policy and Practice at Boston University, endeavors to promote universal, continuous, and affordable coverage for all CYSHCN; close benefit and financing gaps; promote payment for additional services; and build sustainable capacity to promote financing of care. The Catalyst Center offers tools to guide families through financing strategies and personal stories. cahpp.org/project/the-catalyst-center
• National Center for Medical Home Implementation The National Center for Medical Home Implementation (NCMHI), housed in the American Academy of Pediatrics, is a national technical assistance center focused on ensuring all children and youth, particularly those with special health care needs, receive care within and have access to a medical home. NCMHI provides resources for parents and caregivers to assist them in successfully partnering with their child's medical home. medicalhomeinfo.aap.org/Pages/default.aspx
• Family Network on Disabilities The Family Network on Disabilities (FND) is a national network of individuals of all ages who may be at-risk, have disabilities, or have special needs and their families, professionals, and concerned citizens. Their website houses a digital resource library with tip sheets, webinars, and a "transition tool kit." fndusa.org
• Federation for Children with Special Needs The Federation for Children with Special Needs (FCSN) provides information, support, and assistance to parents of children with disabilities, their professional partners, and their communities. FCSN operates the Parent Consultant Training Institute, portal for special education laws, procedures, and resources, in addition to other programs like the LINK Center. fcsn.org n LINK Center: FCSN's LINK Center assists families, professionals and individuals with disabilities who are transition age (1426) to access information, supports and services to achieve their future vision. fcsn.org/linkcenter
• Looking to the Future (Baby's First Test) babysfirsttest.org/newborn-screening/looking-to-the-future
• Regional Genetics Networks and the National Coordinating Center The National Coordinating Center (NCC) is housed within the American College of Medical Genetics and Genomics (ACMG) and funded by the MCHB through HRSA. It supports the seven regional genetics networks (RGNs) by providing infrastructure and technical support and coordinating project activities. Together, the NCC and RGNs work to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services. nccrcg.org
Stay in the loop
Many of the organizations included above share regular newsletters, event announcements, news alerts, and awareness and action campaigns through mailing lists. For monthly updates from the newborn screening and maternal-child health communities, you can subscribe to the Baby's First Test Newborn Screening Newsletter: babysfirsttest.org/newborn-screening/babys-first-test-newsletter. During the sign-up process, you will also have the option to subscribe to alerts from the Newborn Screening Public Square. *This page on BabysFirstTest.org will be undergoing an update in 2018, so please check back as more information is added to this page.