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

Newborn Screening inWisconsin

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

• 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

Newborn Screening CriteriaFor 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

• 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

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

• 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

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