Newborn Screening Manual
NewbornScreeningManualA GUIDE FOR NEWBORN CARE PROVIDERSN ONATALEdition 1 October 2013
Newborn Screening Manual:A Guide for Newborn Care ProvidersThis manual was created by Newborn Screening Ontario (NSO) asa comprehensive guide for submitting institutions and health careproviders (HCPs) to ensure that all infants born in Ontario have a highquality newborn screen completed. This manual outlines recommendedpractices in newborn screening, along with common problems withscreening practices.This manual is available free-of-charge to hospitals and practicesthat submit newborn screening samples to NSO. Revised or additionalpages of the manual will be distributed periodically to ensure that theinformation contained is consistent with current practices. The mostup-to-date version of the manual is also available for download onthe NSO website, www.newbornscreening.on.ca.If you have any questions about the information containedin this manual, or would like to order additional copies for yourhospital/practice, please e-mail newbornscreening@cheo.on.ca.
Newborn screening manual – A guide for newborn care providersTable of contentsSection 1Background information1.11.21.31.41.51.61.7Section 2Ordering newborn screening supplies2.12.22.32.42.5Section 3Ordering newborn screening blood spot collection cardsOrdering shipping supplies from CanparOrdering shipping supplies from PurolaterReview of the specimen transport processCanpar downtime proceduresSpecimen .133.14Section 4IntroductionNSO historyNSO contact informationNewborn screening essentialsNewborn screening timelineNewborn screening resultsList of disorders included in the NSO screening panel(including suggested LIS codes)DefinitionWho is responsible for ensuring that the screening test is performed?Information for parents/guardiansParental/guardian right of refusalResponsibility for documentationTiming of specimen collectionCompletion of blood spot collection cardProcedure for blood spot specimen collectionCollection of newborn screening specimen by other meansMost common errors in specimen collectionSpecimen transportSpecimen tracking systemClinical signs or family history of a diseaseRecommendations for quality assuranceUnsatisfactory specimens4.14.24.34.44.5Unsatisfactory specimens for specimen quality reasonsUnsatisfactory specimens due to missing demographicsWho is responsible for obtaining a repeat specimen?NSO procedure for tracking repeat specimen requestsInadequate demographic information – potential harms
Newborn screening manualTable of ContentsSection 5Missed newborn screens5.15.25.35.4Section 6Education resources6.16.26.36.46.5Section 7IntroductionPrivacy and confidentiality of health informationStorage of the dried blood spot samplesUse of the dried blood spot samplesAdditional uses of the dried blood spot samplesUse of the dried blood spot sample for researchDestruction or release of the dried blood spot sampleDisease specific information8.18.28.38.4Section 9Newborn screening education for health care providersRegional newborn screening workshopsTelehealth seriesNewborn screening education for parentsEducational materials availablePrivacy and confidentiality7.17.27.37.47.57.67.7Section 8DefinitionCommon reasons for missed newborn screensWho is responsible for following up on a potential missed screennotification & obtaining the newborn screen when it has been missed?NSO procedure for tracking potential missed newborn screensDisease screened by categoryDiseases screened by symptomsSummary of diseases screenedAdditional newborn screening resourcesNSO screening process9.1NSO screening processReferences & appendices1234567Newborn screening blood spot collection cardParent information sheetSample screen negative reportSample screen positive report and referral paperworkSample transfusion report and follow-up lettersSample unsatisfactory report and follow-up lettersSample potential missed newborn screening alert and follow-up letter
1Newborn screening manual – A guide for newborn care providersBackground information1.1 IntroductionNewborn screening is a public health system made up of manydifferent yet integral parts: screening, diagnosis, management,evaluation and education1. Founded in 2005, NewbornScreening Ontario (NSO) is based at the Children’s Hospital ofEastern Ontario (CHEO) in Ottawa, Ontario. NSO coordinated themodernization of Ontario’s newborn screening system over the lastfew years, both in the logistical aspects of how the program is runand in the ability to screen for an increasing number of diseases.To ensure that the newborn screening system runs smoothly,NSO is responsible for communicating with a multitude ofnewborn screening stakeholders including the families of infantsscreened, submitting institutions & health care providers (HCPs),prenatal educators, newborn screening treatment centres, andthe Ministry of Health and Long Term Care (MOHLTC). Expandednewborn screening began in April 2006, making Ontario aleader in newborn screening and offering one of the mostcomprehensive newborn screening programs in Canada.The primary goal of newborn screening is the earlyidentification of affected infants in time to prevent serioushealth problems. To do so, every infant must be offeredscreening. Realizing this goal involves the combined effortsof health care providers across the province.The purpose of this guide is to ensure that all infants born inOntario have the opportunity to have a high quality newbornscreen completed.This manual outlines: recommended practices in newborn screeningEnsuring that every infant born in Ontario isscreened and that every affected infant receivesappropriate treatment and follow-up requires thecoordinated efforts of three main groups of HCPs: Submitters:Hospitals, birthing centres, midwifery practices, andprimary HCPs are responsible for parent educationabout newborn screening, specimen collection,providing accurate and complete information for everyscreened infant, and for prompt follow-up in the eventa sample is unsatisfactory or a screen is missed. Newborn Screening Ontario:NSO is responsible for testing, record keeping, qualityassurance of testing, communication with submittersabout unsatisfactory or missed samples, referringscreen positive infants to a regional treatment centre,obtaining follow-up information on screen positiveinfants, and providing education about newbornscreening to parents, HCPs, and the general public. Regional Treatment Centres:Every screen positive infant is referred to a regionaltreatment centre. The treatment centre is responsiblefor ensuring confirmatory testing of screen positiveinfants, management of confirmed cases, providingNSO with follow-up information, and for educationof local HCPs. common problems with screening practices general information about NSO the diseases currently included in the newborn screening panelWhile all of the diseases tested for are rare and not usuallyapparent at birth, collectively about 200 affected infants inOntario will be found to have one of these conditions everyyear ( 1 in 800 infants born). HCPs can help these childrenhave the best start in life through timely newborn screening,early diagnosis and treatment. The cost of missing one of theseconditions is immense, both in human suffering and in financialterms. Untreated infants can develop mental retardation, serioushealth problems, or even die, sometimes without a diagnosisbeing made.In addition, the Newborn and Childhood ScreeningSubcommittee is an independent advisory body of healthand other professionals with expertise in newborn andchildhood screening with a mandate to advise the MOHLTCand NSO on its policies and programs related to newbornand childhood screening. More information on this committeeand their role can be found on the MOHLTC website atwww.health.gov.on.ca.
1Newborn screening manualBackground InformationOntario’s newborn screening system1.2 NSO history 1965 - Screening for Phenylketonuria (PKU) begins 1978 - Screening for Congenital Hypothyroidism(CH) begins 2005 - Announcement that the provincial newbornscreening program will move to the Children’s Hospitalof Eastern Ontario (CHEO) in Ottawa and screen for atleast 25 additional diseases April 2006 - Newborn screening program operatedby NSO adds screening for Medium Chain Acyl-CoADehydrogenase Deficiency (MCADD) August 2006 - Screening for 18 additional metabolicdiseases begins November 2006 - Screening for hemoglobinopathies(HbSS, HbSC, and HbS/ß-thalassemia) begins February 2007 - Screening for Biotinidase deficiency andGalactosemia begins May 2007 - Screening for Congenital Adrenal Hyperplasia(CAH) begins April 2008 - Screening for Cystic Fibrosis (CF) begins November 2010 - Carrier results for somehemoglobinopathies (HbS, HbC, HbD, HbE) availableby parent/guardian request August 2013 - Screening for Severe Combined ImmuneDeficiency (SCID) begins
1.3 NSO contact informationNSO can be contacted in several ways: PhoneToll-Free: 1-877-NBS-8330 (1-877-627-8330)Local: 613 -738-3222 Fax Email Mail613-738-0853newbornscreening@cheo.on.caNewborn Screening OntarioChildren’s Hospital of Eastern Ontario415 Smyth RoadOttawa, Ontario, K1H 8M8 W ebsite Twitter:www.newbornscreening.on.caBulletins:NSO sends updates to submitters primarily via bulletins.For an archive of all bulletins: w ww.newbornscreening.on.caHealth Care Providers Resources BulletinsTo be added to the bulletin mailing list, send an email withyour name, institution, role (i.e. nurse, lab, shipping andreceiving), email, fax and phone number to: newbornscreening@cheo.on.ca@NBS Ontario O ur office hours are Monday to Friday, 8:00 - 16:00To request a newborn screening report: F ax request to 613-738-0853 P lease include with your request at least 3 identifiers(health card number, name, date of birth, mother’smaiden name, etc.) as well as your telephone andfax numbers.For amended reports (to provide us with missing or correctinformation): A mended report voice mailbox (checked daily)613-738-3222 x3180To order newborn screening cards and shipping supplies: P lease see Section 2: Ordering newbornscreening suppliesFrequently asked questions (and many valuable resources forHCPs, parents, and the public): www.newbornscreening.on.caHealth Care Providers Frequently Asked QuestionsPlease notify NSO if your contact information changes so thatthe most up-to-date information is in the NSO contact database.1.4 N ewborn screening essentials10 important points to rememberabout newborn screening1. Please use the term “Newborn Screen.” The term “PKUtest” is confusing to parents. PKU (or phenylketonuria) isonly one of the diseases targeted by Newborn ScreeningOntario. For a complete and current list of the diseasesscreened for, please visit our website.2. T he incidence of all the newborn screening diseases isnow about one infant in 800, about 200 new cases eachyear in Ontario ( 2-3 infants/week identified).3. S creen every infant. Newborn screening detects rarediseases that are not apparent at birth. Most affectedinfants do not have a family history of the disease;therefore every infant is at risk.4. S creen every infant prior to discharge from hospital.Infants discharged prior to 24 hrs of age should havea sample taken prior to discharge. Inform parents ofthe need and process for a repeat screen prior to fivedays of age. If an infant is transferred to anotherhospital, ensure there is communication betweenhospitals regarding the responsibility for obtaining thenewborn screen.
1Newborn screening manualBackground Information5. G oal of Newborn Screening: Diagnose and treatin early life. If undetected and untreated thesedisorders may cause mental retardation, serioushealth problems, or even death. Early detection andtreatment can greatly improve the outcome for thesebabies and sometimes even save their life.For example, infants with PKU and congenitalhypothyroidism irretrievably lose significant cognitivefunction if phenylalanine and thyroid stimulatinghormone (TSH) are not under control by three weeksof age.6. A) A positive screen does not mean a baby isaffected with a disease: iagnostic testing organized by a regional Dnewborn screening treatment centre must bedone to confirm or rule out a diseaseB) A negative screen does not rule out a disease: ny infant symptomatic of a disease should have Athe appropriate diagnostic evaluation immediately. ewborn screening is standard of care and is7. Nstrongly recommended for all infants, but isnot mandatory. Ensure that you have thoroughlyexplained newborn screening to all parents. If parentsdo not consent to testing, it is extremely important todocument the refusal in the infant’s records.8. U nsatisfactory samples require a repeat sampleimmediately. The submitting institution or midwiferypractice that took the initial sample is responsible forensuring the repeat sample is done, even if the infanthas been discharged. Delays in obtaining a repeatsample can lead to delayed diagnosis and serioushealth problems in affected infants.9. E nsure that the newborn screening cards arefilled out completely and accurately. All requestedinformation is essential for accurate interpretationand follow-up of results. Incorrect or missinginformation can lead to false positive results andunnecessary testing for healthy infants.10. V isit the Newborn Screening Ontario Website:www.newbornscreening.on.ca1.5 Newborn screening timelineBefore birthAs a provider of antenatal or newborn care, you should discussnewborn screening with your patient. Information aboutnewborn screening should also be discussed with prospectiveparents in their prenatal education classes. To assist with parenteducation, pamphlets about newborn screening are availablein many different languages and can be downloaded from theNSO website.After deliveryA newborn screening blood spot collection card (Appendix 1)should be completed between one day (24 hours) and sevendays after the birth of the infant, ideally, between two days(48 hours) and three days (72 hours) after birth. If tested before24 hours of age, the test should be repeated within 5 days (eg.at the first postnatal checkup). Blood spots from infants arecollected using the heel-prick method, which is detailed on theback of the specimen card. The parent should be given the parentinformation sheet (Appendix 2) that includes a reference numberin the top right hand corner. This number can be used to link tothe infant’s sample.A HCP will fill out demographic information about the infant andthe infant’s mother/guardian on the blood spot collection card.This information allows NSO to correctly interpret the infant’sresults, and, in the event that the infant screens positive for adisease, it will allow the HCPs coordinating follow-up to contactthe parent/guardian quickly to retrieve the infant.As a HCP, it is important that you emphasize to parents/guardiansthat newborn screening is part of their infant’s routine careand could save their infant’s life and/or prevent serious healthproblems. The vast majority of parents agree to have their infantscreened. Parents/guardians may choose to decline newbornscreening for their infant. You should discuss this decision withthem, and you should document this decision in the infant’smedical record. Some HCPs will ask parents/guardians to sign aform indicating that they have refused newborn screening fortheir infant. No province-wide newborn screening decline formcurrently exists; however, based on feedback received, NSO is inthe process of developing one.
The newborn screening sampleIt is critical that NSO receive the newborn screeningspecimen card as soon as possible after the blood spotsare collected. Therefore, the cards should be sent no laterthan 24 hours after collection and, ideally, as soon as theblood spots are dry (2-3 hours after collection). Infantswith some of the diseases screened will start to becomeill and may suffer irreversible damage soon after birth.DO NOT BATCH SAMPLES FOR TRANSPORTATION.The hospital or HCP will send the infant’s sample to NSO usingthe pre-paid Canpar system. When the sample is received, theblood spot is tested and the demographic information fromthe newborn screening card is entered into a database. Thisdatabase links the infant’s information with the results of thescreening tests, and also serves as a way to store the infant’snewborn screening result.The results of the screening tests are reviewed by physiciansand/or laboratory scientists to determine if the infant has alower risk of having a disease (“screen negative”) or a higherrisk of having a disease (“screen positive”).1.6 Newborn screening resultsScreen negative results (low risk)If the infant is “screen negative”, he or she has a low risk of havingany the diseases included on the screening panel. In this case,a report (Appendix 3) is mailed to the hospital or health careprovider that submitted the infant’s sample.Unsatisfactory sampleIf the infant’s sample is unsatisfactory (for example, if it wastaken too early, or if there was not enough blood to do thetesting), NSO will contact the hospital or HCP that sent in thesample and ask them for a new sample. The HCP who submittedthe sample should call the parent/guardian to tell them that theinfant’s test needs to be repeated and make arrangements foranother sample to be taken.Screen positive results (increased risk)If the infant is screen positive, this does NOT mean that theinfant has a disease; however, it does mean that the infant hasan increased chance to have a disease. An NSO physician will referthe infant to physicians at a Regional Treatment Centre (RTC) forfollow-up diagnostic testing to determine if the infant truly hasthe disease (Appendix 4). In some cases, NSO staff work directlywith HCPs and families to arrange testing.The treatment centre physicians will provide the referringphysician at NSO with follow-up information about the infant,as is the case for any medical referral. This includes medicalinformation, which tests were done, the results of those tests,and whether or not the infant truly has the disease (Appendix 4).This feedback allows NSO to make sure that screen positiveinfants receive appropriate and timely care. NSO HCPs reviewthis information and may contact you, the family, or the regionaltreatment centre if we have questions about the infant’s care.Parents/guardians may choose not to share this information, inwhich case, they should be encouraged to discuss this with theirHCP or contact NSO.Screening limitationsAs with all screening tests, false positive and false negativeresults occur in newborn screening. False positives may increaseparental anxiety, while false negatives will give a misleadingsense of reassurance. If an infant in your care displays symptomsof a particular disease, the child should be investigated andmanaged appropriately regardless of the results of the newbornscreen. The relevant specialist should be contacted immediatelyfor further advice.There is wide variation in the clinical presentation of the diseasesthat the newborn screen detects. Therefore, some affectedindividuals – infants who have had diagnostic testing indicatingthat they have a particular disease– will remain asymptomaticor have very mild symptoms, even without treatment.
1Newborn screening manualBackground Information1.7 L ist of disorders included in the NSO newborn screening panel(including suggested LIS codes)TestLIS CodeAmino Acidemias: Phenylketonuria and Variants / Biopterin defects NBS-PKU Maple Syrup Urine Disease NBS-MSUD Homocystinuria (Hypermethioninemias) NBS-HCY Citrullinemias / Argininosuccinic AciduriaNBS-CIT Tyrosinemias NBS-TYR Amino Acidopathies, other NBS-AAOrganic Acidemias: Propionic / Methylmalonic Acidemias NBS-C3 Isovaleric Acide
A Guide for Newborn Care Providers. Table of contents Section 1 Background information 1.1 Introduction 1.2 NSO history 1.3 NSO contact information 1.4 Newborn screening essentials 1.5 Newborn screening timeline 1.6 Newborn screening results 1.7 List of disorders included in the NSO screening panel
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diagnostic testing by an audiologist or physician in accordance with the Georgia Newborn Screening Program Policy and Procedure Manual’s approved instrumentation, protocols and pass/refer criteria; (l) “Newborn Screening and Genetics Advisory Committee (NBSAC)” is a multi-disciplinary group of
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