Transcript Newborn screening in Wisconsin

Newborn Screening in
Wisconsin
Jill Paradowski RN, MS
Newborn Screening Coordinator
Southeast region of Wisconsin
Newborn screening in
Wisconsin
• Newborns in WI are screened for different
disorders under a state statute
• Testing and parental notification is mandatory
• Results in 2-5 days
• Screening decreases morbidity and mortality, and
increases quality of life for babies with these
disorders
• Program is supported by cost of the screening card
Wisconsin Statute 253.13
• “The attending physician or nurse certified
under 441.5 shall cause every infant born in
each hospital or maternity home, prior to its
discharge therefrom, to be subjected to
blood tests for congenital or metabolic
disorders…”
Wisconsin Statute 253.13
• Requires that parents be informed of testing
– “No tests may be performed…unless the
parents or legal guardian are fully informed of
the purposes of testing…and have been given
reasonable opportunity to object…”
• Parents may refuse based on religion
– “This section shall not apply if the parents…
object...on the grounds that the test conflicts
with their religious tenets and practices
Notification of screening
•
•
•
•
Pamphlet used as main educational piece
Offered during prenatal visits or at birth
NO consent is required
Dissent is up to the hospital
Newborn Screening Criteria
For Wisconsin
• Occurs in at least 1/100,000 births (WI.
Birth rate is 65,000)
• Detection in the neonatal period leads to a
demonstrable reduction in morbidity and
mortality
• Potential for effective therapy
• Reasonable cost
• Laboratory feasibility
Wisconsin Newborn
Screening Panel
•
•
•
•
•
Biotinidase deficiency
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism
Cystic fibrosis (CF)
Fatty acid oxidation disorders
– Class of 7 disorders, including MCAD
– Amino Acids
Wisconsin Newborn
Screening Panel (Cont.)
• Galactosemia
• Hemoglobinopathies
• Organic aciduria disorders
– Class of 7 disorders
• Phenylketonuria (PKU)
• MSUD, Homocystinuria, Tyrosine,
Citrullinemia and Argininosuccinic
Acidemia
When Are Samples Taken?
• Full-term infants: collect before hospital
discharge
– If collected before 24 hrs of age, recollect in next 14
days
• Sick infants over 2200 g : collect before 7 days of
life
– If hospital stay is more than 14 days, repeat at discharge
or at one month of age if hospital stay is longer than
one month
– Collect at discharge unless one has been collected
within 6 days of discharge.
When Are Samples Taken?
• Home/out-of-hospital births: birth attendant
is responsible for collection before one
week of life
• In summary, ideal sample time is after 24
hours but before 1 week of life
Testing Long Stay NICU
Infants
• Three premature infants had delayed
diagnosis of Hypothyroidism
• Led to discussion in the Endocrine committee
on how this could be prevented
• Guidelines developed on repeat testing of
NICU infants
• Guidelines apply to infants under 2200 grams
Test Schedule for Long Term
NICU Stays
•
•
•
•
Test initially, especially before transfusion
Then at 2 weeks and at one month
Monthly thereafter
At discharge, unless tested within six days of
discharge
• If any sample is collected post transfusion/follow
retesting guidelines on the laboratory report
• Newborn hearing result should be indicated on last
sample before discharge
Results Reporting
• Samples are run the day they are received
• Specimens with all normal results available
within 48 hours
• Color scheme used for reports
– White paper = normal results
– Gold paper = definite abnormal
– Blue paper = possible abnormal
Results Reporting
• Physician is contacted immediately
whenever a result is considered to be
in the definite abnormal range
– Physician contacts the parents and
arranges any follow-up testing necessary
– Immediate notification important for
treatment in some disorders
Results Reporting
• Follow-up
– Specialists throughout state aid in follow-up of
abnormal results
– Refer to appropriate care center
• Many additional services required by
children identified through NBS are
supported by the surcharge fee
Committees
•
•
•
•
•
•
Endocrine
Metabolic
Hemoglobin
Cystic Fibrosis
Umbrella (oversees overall program)
Each meets two times a year and has
representatives from many disciplines
Education subcommittee
• One of the subcommittees that meets
around issues of education for professionals
and parents
• Pamphlets
• Slide presentation
• Poster for offices
• Poster for conferences
Importance of Informing
Parents About Screening
• Potential psychological impact of an
abnormal result
– Shock
– Guilt
– Anger
Involvement with the Milw.
Health Department
• Health department was well known in the
community
• Availability of staff to home visit
• Ability to find infants in the community
• Good relationships with the hospitals
• Since 1989, part of the surcharge has
supported positions in the Milwaukee
Health Department
Referral and follow-up
of infants
• Initial follow-up always begins at the State
Laboratory
• Infants with hemoglobin disease are all
followed by the Milwaukee Health
Department
• Goal is to be sure that all definite disorders
are followed until care is received
Issues in obtaining follow-up
• Health care providers are not aware of need
to rescreen
• Parents do not know of results and so they
do not follow-up
• Insurance problems right after birth
• Health care providers do not refer for
specialty care
Public health helps
• Goal is that all infants receive specialty care
and parents receive adequate education
about the disorder
• In Milwaukee that is at Children’s Hospital
of Wisconsin
• Follow-up is done with sickle cell disease
infants for fever and penicillin
Health Department System
• State lab or area hospitals and health care
providers refer infants needing follow-up
• Home visits are made to collect samples
• Telephone calls are made to arrange care
• Coordination is done with the specialty
clinics for care
• Sickle cell disease infants are followed into
specialty care
Hepatitis B
• Mothers status is recorded on the filter card
• Positive status of mother is reported to state
• Local health departments then get notified
of the birth
• Follow-up takes place to insure that the
infant is immunized in a timely manner
Universal Newborn Hearing
Screening
• Cooperative arrangement between the NBS lab
and the Sounds Beginning Program at DPH
• CDC suggests a joint data base
• NBS Blood collection card revised for recording
hearing results began 5/02
• Follow-up and reporting will assist hospitals and
assure appropriate care for affected babies
Summary
• Newborn screening is a program not just
screening
• Education and comprehensive care is our
goal
• Appropriate re-screening and follow-up of
every infant identified
• Many disciplines come together to provide
this care
Contact Information
• Web Site: http://www.slh.wisc.edu/newborn
• For parent brochures, call Wisconsin Division of
Public Health: (608) 266-8904
• For technical questions (collection, results, etc.)
call WSLH Newborn Screening Laboratory: (608)
262-6547
• Jill Paradowski RN, MS 414-286-8845
Milwaukee Health Department