Newborn Screening and Children’s Special Health Care Services

1. Newborn Screening and Children’s Special Health Care Services Lois Turbett, MS, RN Nurse Consultant

2. Purpose of Newborn Screening (NBS) • Early diagnosis • Early treatment • Reduce morbidity and mortality • Reduce financial burden

3. 50th Anniversary of NBS • Robert Guthrie publishes A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants. Pediatrics 1963; 32:338-342 • 1963 Massachusetts becomes the first state to mandate screening for phenylketonuria (PKU) in newborns

4. Early History of Michigan NBS • 1965 PKU • 1977 congenital hypothyroidism (CH) • 1985 galactosemia • 1987 biotinidase deficiency, maple sugar urine disease (MSUD) and hemoglobinopathies • 1993 congenital adrenal hyperplasia (CAH) • 2003-2005 additional metabolic disorders • 2007 cystic fibrosis (CF) • 2011 severe combined immunodeficiencies (SCID)

5. 217 Babies Diagnosed through NBS in 2011 • Cystic fibrosis (13) • Endocrine (86) • Congenital hypothyroidism (78) • Congenital adrenal hyperplasia (8) • Hemoglobinopathies (61) • Metabolic disorders (57) • Primary immunodeficiencies (0)

6. Michigan Compiled LawsSection 333.5431 • Mandated • Hospitals • Birthing attendants (midwives) • Parents may opt out • Rare • Fax signed refusal form to NBS Follow-up • 517-335-9419 or • 517-335-9739

7. NBS Results • Faxed to the primary care provider (PCP) listed on the NBS card • Consult with medical management centers as needed • Explain to family meaning of screen • Arrange with family for a repeat newborn screen when requested

8. NBS Results on MCIR • NBS results are posted on Michigan Care Improvement Registry (MCIR) • Click on “Newborn Screening Tab” • Click on “Results” (opens PDF) • Primary care offices have access; local health departments (LHDs) usually do not

9. Now says “report”

10. Role of LHD CSHCS • Know the disorders-more than a “PKU test” • Cystic fibrosis • Endocrine • Hemoglobinopathies • Metabolic • Primary immunodeficiencies • 50+ disorders screened as well as hearing

11. NBS Results • Normal • Inconclusive and borderline • Fax report to management center • Fax report to primary care provider (PCP) • NBS Follow-up requests repeat screen

12. Role of LHD CSHCS,Borderline Positive (B+) • NBS referral sent to LHD via EZ Link • Check to see if family due in for WIC • Check to see if enrolled in Maternal Infant Health Program (MIHP) • Call family • Visit if in the neighborhood • Assist family to obtain a primary care provider (PCP) for infant • Obtain repeat screen at a local birthing hospital

14. NBS Results (cont.) • Strong positive • Fax report to PCP • Fax report to management center; assure referral received • Management center assumes follow-up of strong positive referral

15. Role of LHD CSHCS, Strong Positive (S+) • CSHCS diagnostic referral • All NBS diagnoses are covered by CSHCS • Sub-specialist referral depends on the disorder

16. Medical Management Centers • Newborn Screening and Coordinating Program for Cystic Fibrosis (University of Michigan) • Newborn Screening Endocrine Follow-up Program (University of Michigan) • Sickle Cell Disease Association of America, Michigan Chapter • Children’s Hospital of Michigan Metabolic Clinic • Children’s Hospital of Michigan Coordinating Center for Primary Immunodeficiencies

17. Cystic Fibrosis (CF) • High immunoreactivetrypsinogen (IRT) • Enzyme created by the pancreas • High in infants with CF • Other conditions can also cause elevation • Mutation for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) • Michigan tests for 40 common mutations

18. Cystic Fibrosis (CF) (cont.) • High IRT, no mutation • Primary care provider (PCP) notified • PCP to monitor health status of infant • High IRT, one or two mutations • Referral to management center • Arrange for sweat chloride test • Notify NBS follow-up if the mother of a CSHCS CF client is pregnant

19. Role of LHD CSHCS,S+ CF • CSHCS diagnostic referral to a certified CF center for sweat test • Helen DeVos Children’s Hospital • Western Michigan University, Kalamazoo • Michigan State University, Lansing • Mott (Ann Arbor & Flint) • Children’s Hospital of Michigan • Toledo (borderland)

20. Congenital Hypothyroidism (CH) • Test for thyroid stimulating hormone (TSH) • Cutoffs vary depending on age • Untreated CH may lead to irreversible decreased intellectual ability

21. Role of LHD CSHCSS+ CH • Medical management center refers to pediatric endocrinologist for serum TSH and serum free T4 • CSHCS diagnostic referral if indicated • Insurance prior authorization for Synthroid instead of levothyroxine

22. Congenital Adrenal Hyperplasia (CAH) • 17-hydroxyprogesterone (17-OPH) • Newborn may already show signs of CAH while in the hospital • Ambiguous genitalia (female) • Clinical picture

23. Role of LHD CSHCSS+ CAH • Immediate referral to pediatric endocrinologist • CSHCS diagnostic referral • Retroactive diagnostic • CSHCS backdating • CSHCS nurse should assure family understanding of written emergency plan for CAH

24. Hemoglobinopathies • Sickle cell anemia • β thalassemia • Sickle β thalassemia • Hb H disease ( thalassemia)

25. Role of LHD CSHCS Hemoglobinopathies • CSHCS diagnostic referral • Be familiar with pain management challenges • Ask to see the patient’s notebook • Transition to adult Hem/Onc

26. Metabolic Disorders • Amino acid disorders • Fatty acid disorders • Organic acid disorders • Other disorders

27. Amino Acid Disorders • Phenylketonuria (PKU) • Classic PKU • Non-PKU hyperphenylalanemia • Maple sugar urine disease (MSUD) • Arginosuccinic acidemia (ASA) • Citrullinemia type I (CIT-I) • Arginase deficiency (ARG) • Citrullinemia type II (CIT-II)

28. Fatty Acid Disorders • Carnitine uptake defect (CUD) • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

29. Organic Acid Disorders • 2MBG - 2-Methylbutyryrl-CoA dehydrogenase deficiency • Isovaleric acidemia (IVA) • Glutaric acidemia Type I

30. Other Disorders • Classic galactosemia • Life threatening • Immediate switch to soy formula; discontinue breastfeeding • Duarte galactosemia • Mild, often no treatment • Biotinidase deficiency • Treated with daily biotin

31. Role of LHD CSHCSMetabolic Disorders • Know the disorder for your enrolled child • Many disorders can be life threatening; others are mild • Assure family understanding of written emergency plan • Access to care issues • Detroit, Grand Rapids, Ann Arbor

32. Role of LHD CSHCSMetabolic Disorders • Prior authorization challenges for metabolic formula • Lifetime PKU diet • Maternal PKU • May need to get mom back on CSHCS if pregnant and <21 • Baby can develop permanent intellectual impairment if mother does not follow diet

33. Severe Combined Immunodeficiency (SCID) • A group of inherited disorders characterized by the lack of a functioning immune system • “Combined” defect in both T and B-cell function • Exposure to common illnesses and live vaccines is life threatening

34. NBS SCID Testing • Test for T-cell receptor excision circles (TRECs) • By-product generated during T-cell development • Low or absent number means infant is not making T-cells • Michigan began testing for SCID October 3, 2011

35. Role of LHD CSHCSPrimary Immunodeficiencies • Diagnostic referral, flow cytometry • DeVos • University of Michigan • Children’s Hospital of Michigan • If true SCID, bone marrow transplant (BMT) is likely • May need intravenous immune globulin (IVIG) until BMT

36. Recap • B+, repeat newborn screen needed • S+, CSHCS diagnostic referral • Confirmed case, CSHCS eligible

37. NBS Newsletter Online • www.michigan.gov/newbornscreening

38. Covered by CSHCS

40. NBS Information • 866-673-9939 • Fax 517-335-9419 • newbornscreening@michigan.gov • www.michigan.gov/newbornscreening • www.michigan.gov/biotrust • Lois Turbett • turbettl@michigan.gov • 517-335-1966