1. Newborn Screening in Wisconsin Jill Paradowski RN, MS Newborn Screening Coordinator Southeast region of Wisconsin

2. 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

3. 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…”

4. 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

5. Pamphlet used as main educational piece Offered during prenatal visits or at birth NO consent is required Dissent is up to the hospital Notification of screening

6. 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

7. 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

8. Wisconsin Newborn Screening Panel (Cont.) Galactosemia Hemoglobinopathies Organic aciduria disorders –Class of 7 disorders Phenylketonuria (PKU) MSUD, Homocystinuria, Tyrosine, Citrullinemia and Argininosuccinic Acidemia

9. 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.

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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

16. Committees Endocrine Metabolic Hemoglobin Cystic Fibrosis Umbrella (oversees overall program) Each meets two times a year and has representatives from many disciplines

17. 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

18. Importance of Informing Parents About Screening Potential psychological impact of an abnormal result –Shock –Guilt –Anger

19. 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

20. 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

21. 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

22. 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

23. 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

24. 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

25. 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

26. 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

27. 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