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2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
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