Newborn Screening Newborn Screening and Children’s and Children’s

Special Health Care Special Health Care Services Services

Lois Turbett, MS, RNLois Turbett, MS, RNNurse ConsultantNurse Consultant

Purpose of Newborn Purpose of Newborn Screening (NBS)Screening (NBS) Early diagnosisEarly diagnosis Early treatmentEarly treatment Reduce morbidity and mortalityReduce morbidity and mortality Reduce financial burdenReduce financial burden

5050thth Anniversary of Anniversary of NBSNBS Robert Guthrie publishes Robert Guthrie publishes A Simple A Simple

Phenylalanine Method for Detecting Phenylalanine Method for Detecting Phenylketonuria in Large Phenylketonuria in Large Populations of Newborn Infants.Populations of Newborn Infants. Pediatrics 1963; 32:338-342Pediatrics 1963; 32:338-342

1963 Massachusetts becomes the 1963 Massachusetts becomes the first state to mandate screening for first state to mandate screening for phenylketonuria (PKU) in newborns phenylketonuria (PKU) in newborns

Early History of Early History of Michigan NBSMichigan NBS 1965 PKU1965 PKU 1977 congenital hypothyroidism (CH)1977 congenital hypothyroidism (CH) 1985 galactosemia1985 galactosemia 1987 biotinidase deficiency, maple sugar urine 1987 biotinidase deficiency, maple sugar urine

disease (MSUD) and hemoglobinopathiesdisease (MSUD) and hemoglobinopathies 1993 congenital adrenal hyperplasia (CAH)1993 congenital adrenal hyperplasia (CAH) 2003-2005 additional metabolic disorders2003-2005 additional metabolic disorders 2007 cystic fibrosis (CF)2007 cystic fibrosis (CF) 2011 severe combined immunodeficiencies 2011 severe combined immunodeficiencies

(SCID)(SCID)

217 Babies Diagnosed 217 Babies Diagnosed through NBS in 2011through NBS in 2011 Cystic fibrosis (13)Cystic fibrosis (13) Endocrine (86)Endocrine (86)– Congenital hypothyroidism (78)Congenital hypothyroidism (78)– Congenital adrenal hyperplasia (8)Congenital adrenal hyperplasia (8)

Hemoglobinopathies (61)Hemoglobinopathies (61) Metabolic disorders (57)Metabolic disorders (57) Primary immunodeficiencies (0)Primary immunodeficiencies (0)

Michigan Compiled Michigan Compiled LawsLawsSection 333.5431Section 333.5431 MandatedMandated– HospitalsHospitals– Birthing attendants (midwives)Birthing attendants (midwives)

Parents may opt outParents may opt out– RareRare– Fax signed refusal form to NBS Follow-upFax signed refusal form to NBS Follow-up

517-335-9419 or517-335-9419 or 517-335-9739517-335-9739

NBS ResultsNBS Results

Faxed to the primary care Faxed to the primary care provider (PCP) listed on the NBS provider (PCP) listed on the NBS cardcard– Consult with medical management Consult with medical management

centers as neededcenters as needed– Explain to family meaning of screenExplain to family meaning of screen– Arrange with family for a repeat Arrange with family for a repeat

newborn screen when requestednewborn screen when requested

NBS Results on MCIRNBS Results on MCIR NBS results are posted on NBS results are posted on

Michigan Care Improvement Michigan Care Improvement Registry (MCIR)Registry (MCIR)– Click on “Newborn Screening Tab”Click on “Newborn Screening Tab”– Click on “Results” (opens PDF)Click on “Results” (opens PDF)

Primary care offices have access; Primary care offices have access; local health departments (LHDs) local health departments (LHDs) usually do notusually do not

Now says “report”

Role of LHD CSHCSRole of LHD CSHCS Know the disorders-more than a Know the disorders-more than a

“PKU test”“PKU test”– Cystic fibrosis Cystic fibrosis – EndocrineEndocrine– HemoglobinopathiesHemoglobinopathies– MetabolicMetabolic– Primary immunodeficienciesPrimary immunodeficiencies

50+ disorders screened as well as 50+ disorders screened as well as hearinghearing

NBS ResultsNBS Results NormalNormal Inconclusive and borderlineInconclusive and borderline– Fax report to management centerFax report to management center– Fax report to primary care provider Fax report to primary care provider

(PCP) (PCP) – NBS Follow-up requests repeat NBS Follow-up requests repeat

screenscreen

Role of LHD CSHCS,Role of LHD CSHCS,Borderline Positive Borderline Positive (B+)(B+)

NBS referral sent to LHD via EZ Link NBS referral sent to LHD via EZ Link – Check to see if family due in for WICCheck to see if family due in for WIC– Check to see if enrolled in Maternal Infant Check to see if enrolled in Maternal Infant

Health Program (MIHP)Health Program (MIHP)– Call familyCall family– Visit if in the neighborhoodVisit if in the neighborhood– Assist family to obtain a primary care Assist family to obtain a primary care

provider (PCP) for infantprovider (PCP) for infant– Obtain repeat screen at a local birthing Obtain repeat screen at a local birthing

hospitalhospital

NBS Results (cont.)NBS Results (cont.) Strong positiveStrong positive– Fax report to PCPFax report to PCP– Fax report to management center; Fax report to management center;

assure referral receivedassure referral received Management center assumes Management center assumes

follow-up of strong positive follow-up of strong positive referralreferral

Role of LHD CSHCS, Role of LHD CSHCS, Strong Positive (S+)Strong Positive (S+) CSHCS diagnostic referralCSHCS diagnostic referral– All NBS diagnoses are covered by All NBS diagnoses are covered by

CSHCSCSHCS– Sub-specialist referral depends on Sub-specialist referral depends on

the disorderthe disorder

Medical Management Medical Management CentersCenters Newborn Screening and Coordinating Newborn Screening and Coordinating

Program for Cystic Fibrosis (University of Program for Cystic Fibrosis (University of Michigan)Michigan)

Newborn Screening Endocrine Follow-up Newborn Screening Endocrine Follow-up Program (University of Michigan)Program (University of Michigan)

Sickle Cell Disease Association of America, Sickle Cell Disease Association of America, Michigan ChapterMichigan Chapter

Children’s Hospital of Michigan Metabolic Children’s Hospital of Michigan Metabolic ClinicClinic

Children’s Hospital of Michigan Coordinating Children’s Hospital of Michigan Coordinating Center for Primary ImmunodeficienciesCenter for Primary Immunodeficiencies

Cystic Fibrosis (CF)Cystic Fibrosis (CF) High immunoreactive trypsinogen (IRT)High immunoreactive trypsinogen (IRT)– Enzyme created by the pancreasEnzyme created by the pancreas– High in infants with CFHigh in infants with CF– Other conditions can also cause elevationOther conditions can also cause elevation

Mutation for Cystic Fibrosis Mutation for Cystic Fibrosis Transmembrane Conductance Regulator Transmembrane Conductance Regulator (CFTR)(CFTR)– Michigan tests for 40 common mutationsMichigan tests for 40 common mutations

Cystic Fibrosis (CF) Cystic Fibrosis (CF) (cont.)(cont.) High IRT, no mutationHigh IRT, no mutation– Primary care provider (PCP) notifiedPrimary care provider (PCP) notified– PCP to monitor health status of infantPCP to monitor health status of infant

High IRT, one or two mutationsHigh IRT, one or two mutations– Referral to management centerReferral to management center– Arrange for sweat chloride testArrange for sweat chloride test

Notify NBS follow-up if the mother Notify NBS follow-up if the mother of a CSHCS CF client is pregnantof a CSHCS CF client is pregnant

Role of LHD CSHCS,Role of LHD CSHCS,S+ CFS+ CF CSHCS diagnostic referral to a CSHCS diagnostic referral to a

certified CF center for sweat testcertified CF center for sweat test– Helen DeVos Children’s HospitalHelen DeVos Children’s Hospital– Western Michigan University, KalamazooWestern Michigan University, Kalamazoo– Michigan State University, LansingMichigan State University, Lansing– Mott (Ann Arbor & Flint)Mott (Ann Arbor & Flint)– Children’s Hospital of Michigan Children’s Hospital of Michigan – Toledo (borderland)Toledo (borderland)

Congenital Congenital Hypothyroidism (CH)Hypothyroidism (CH) Test for thyroid stimulating Test for thyroid stimulating

hormone (TSH)hormone (TSH)– Cutoffs vary depending on ageCutoffs vary depending on age

Untreated CH may lead to Untreated CH may lead to irreversible decreased intellectual irreversible decreased intellectual abilityability

Role of LHD CSHCSRole of LHD CSHCSS+ CHS+ CH Medical management center refers Medical management center refers

to pediatric endocrinologist for to pediatric endocrinologist for serum TSH and serum free T4serum TSH and serum free T4

CSHCS diagnostic referral if CSHCS diagnostic referral if indicatedindicated

Insurance prior authorization for Insurance prior authorization for Synthroid instead of levothyroxineSynthroid instead of levothyroxine

Congenital Adrenal Congenital Adrenal Hyperplasia (CAH)Hyperplasia (CAH) 17-hydroxyprogesterone (17-17-hydroxyprogesterone (17-

OPH)OPH) Newborn may already show signs Newborn may already show signs

of CAH while in the hospitalof CAH while in the hospital– Ambiguous genitalia (female)Ambiguous genitalia (female)– Clinical pictureClinical picture

Role of LHD CSHCSRole of LHD CSHCSS+ CAHS+ CAH Immediate referral to pediatric Immediate referral to pediatric

endocrinologistendocrinologist CSHCS diagnostic referralCSHCS diagnostic referral– Retroactive diagnosticRetroactive diagnostic– CSHCS backdatingCSHCS backdating

CSHCS nurse should assure family CSHCS nurse should assure family understanding of written understanding of written emergency plan for CAHemergency plan for CAH

HemoglobinopathiesHemoglobinopathies Sickle cell anemia Sickle cell anemia ββ thalassemia thalassemia Sickle Sickle ββ thalassemia thalassemia Hb H disease (Hb H disease ( thalassemia) thalassemia)

Role of LHD CSHCS Role of LHD CSHCS HemoglobinopathiesHemoglobinopathies CSHCS diagnostic referralCSHCS diagnostic referral Be familiar with pain Be familiar with pain

management challengesmanagement challenges Ask to see the patient’s notebookAsk to see the patient’s notebook Transition to adult Hem/Onc Transition to adult Hem/Onc

Metabolic DisordersMetabolic Disorders Amino acid disordersAmino acid disorders Fatty acid disordersFatty acid disorders Organic acid disordersOrganic acid disorders Other disordersOther disorders

Amino Acid DisordersAmino Acid Disorders Phenylketonuria (PKU)Phenylketonuria (PKU)– Classic PKUClassic PKU– Non-PKU hyperphenylalanemia Non-PKU hyperphenylalanemia

Maple sugar urine disease (MSUD)Maple sugar urine disease (MSUD) Arginosuccinic acidemia (ASA)Arginosuccinic acidemia (ASA) Citrullinemia type I (CIT-I)Citrullinemia type I (CIT-I) Arginase deficiency (ARG)Arginase deficiency (ARG) Citrullinemia type II (CIT-II)Citrullinemia type II (CIT-II)

Fatty Acid DisordersFatty Acid Disorders Carnitine uptake defect (CUD)Carnitine uptake defect (CUD) Medium-chain acyl-CoA Medium-chain acyl-CoA

dehydrogenase deficiency dehydrogenase deficiency (MCAD)(MCAD)

Very long-chain acyl-CoA Very long-chain acyl-CoA dehydrogenase deficiency dehydrogenase deficiency (VLCAD)(VLCAD)

Organic Acid DisordersOrganic Acid Disorders 2MBG - 2-Methylbutyryrl-CoA

dehydrogenase deficiency Isovaleric acidemia (IVA) Glutaric acidemia Type I

Other DisordersOther Disorders Classic galactosemiaClassic galactosemia– Life threateningLife threatening– Immediate switch to soy formula; Immediate switch to soy formula;

discontinue breastfeedingdiscontinue breastfeeding Duarte galactosemia Duarte galactosemia – Mild, often no treatment Mild, often no treatment

Biotinidase deficiencyBiotinidase deficiency– Treated with daily biotin Treated with daily biotin

Role of LHD CSHCSRole of LHD CSHCSMetabolic DisordersMetabolic Disorders Know the disorder for your enrolled Know the disorder for your enrolled

childchild Many disorders can be life Many disorders can be life

threatening; others are mildthreatening; others are mild Assure family understanding of Assure family understanding of

written emergency planwritten emergency plan Access to care issuesAccess to care issues– Detroit, Grand Rapids, Ann Arbor

Role of LHD CSHCSRole of LHD CSHCSMetabolic DisordersMetabolic Disorders Prior authorization challenges for Prior authorization challenges for

metabolic formulametabolic formula Lifetime PKU dietLifetime PKU diet Maternal PKUMaternal PKU– May need to get mom back on CSHCS if May need to get mom back on CSHCS if

pregnant and <21pregnant and <21– Baby can develop permanent intellectual Baby can develop permanent intellectual

impairment if mother does not follow dietimpairment if mother does not follow diet

Severe Combined Severe Combined Immunodeficiency Immunodeficiency (SCID)(SCID) A group of inherited disorders A group of inherited disorders

characterized by the lack of a characterized by the lack of a functioning immune systemfunctioning immune system

““Combined” defect in both T and Combined” defect in both T and B-cell functionB-cell function

Exposure to common illnesses and Exposure to common illnesses and live vaccines is life threateninglive vaccines is life threatening

NBS SCID TestingNBS SCID Testing Test for T-cell receptor excision Test for T-cell receptor excision

circles (TRECs)circles (TRECs)– By-product generated during T-cell By-product generated during T-cell

developmentdevelopment– Low or absent number means infant Low or absent number means infant

is not making T-cellsis not making T-cells Michigan began testing for SCID Michigan began testing for SCID

October 3, 2011October 3, 2011

Role of LHD CSHCSRole of LHD CSHCSPrimary Primary ImmunodeficienciesImmunodeficiencies Diagnostic referral, flow cytometryDiagnostic referral, flow cytometry– DeVosDeVos– University of Michigan University of Michigan – Children’s Hospital of MichiganChildren’s Hospital of Michigan

If true SCID, bone marrow If true SCID, bone marrow transplant (BMT) is likelytransplant (BMT) is likely– May need intravenous immune May need intravenous immune

globulin (IVIG) until BMT globulin (IVIG) until BMT

RecapRecap B+, repeat newborn screen B+, repeat newborn screen

neededneeded S+, CSHCS diagnostic referralS+, CSHCS diagnostic referral Confirmed case, CSHCS eligibleConfirmed case, CSHCS eligible

NBS Newsletter OnlineNBS Newsletter Online

www.michigan.gov/www.michigan.gov/newbornscreeningnewbornscreening

Covered by CSHCS

NBS InformationNBS Information 866-673-9939866-673-9939 Fax 517-335-9419Fax 517-335-9419 newbornscreening@michigan.gov www.michigan.gov/newbornscreening www.michigan.gov/biotrust Lois TurbettLois Turbett– turbettl@michigan.govturbettl@michigan.gov– 517-335-1966517-335-1966