Newborn Screening in Saskatchewan Information for Health Care Providers

Resources

For more information on Saskatchewan’s newborn screening and the conditions screened for by the test, please visit www.health.gov.sk.ca/newborn-testing, or contact the Saskatchewan Disease Control Laboratory at (306) 787-3142 or (306) 787-7900.

Saskatchewan Disease Control Laboratory Saskatchewan Ministry of HealthLloyd Place 3211 Albert StreetRegina, SaskatchewanS4S 5W6

New address in the fall 2009

Other resources

• AmericanAcademyofPediatrics: www.aap.org/healthtopics/newbornscreening.cfm

• OrphaNet(informationaboutraredisorders): www.orpha.net

• NationalOrganizationforRareDisorders(NORD): www.rarediseases.org/search/rdblist.html

UsedandadaptedwithpermissionfromtheGovernmentofOntario.

June/09

Newborn screening: a healthy start leads to a healthier life

Since the mid-1960s, health care providers have offerednewbornscreeningforphenylketonuria(PKU)to all infants born in Saskatchewan. Today, newborn screeninghasexpandedtoscreenforatleast30plusmetabolicandendocrinedisorders.Individually,thesedisordersarerare,butwill,asagroup,affecteightto10outof13,000newbornsintheprovinceeachyear.

The Saskatchewan Disease Control Laboratory in Reginaconductsalltestingforcongenitaldisorders.

Early detection. Early treatment.

Big benefits.

Thesebabiesappearnormalatbirthand,unlesstheyarescreened,mightotherwisenotbeidentifiedtohaveone ofthesedisordersuntilirreversibledamagehasoccurred.Ifnottreated,theseconditionsareassociatedwithrecurrentillnessesand/ordevelopmentaldisabilities and/or death. Early diagnosis and treatment canresultinsignificantlyimprovedorpositiveoutcomes.Insome,preventivecarecanimproveormaintainthequalityoflifeofthesebabies.Forbabieswho start to become ill soon after birth, newborn screeningmaysavevaluabletimeandresourcesinmakingadefinitediagnosis.

Informed parents make smart choices

It’simportantthatyou,asahealthcareprovider,emphasizetoparentsthatnewbornscreeningispart oftheirbaby’sroutinecareandcouldsavetheirbaby’slifeand/orpreventserioushealthproblems.Thevastmajority of parents agree to have their baby screened. Shouldaparentrefusenewbornscreening,thedecisionshouldbedocumentedinthebaby’smedicalrecordsandtheparentswillberequiredtosignarefusalform.

What health care providers need to do

Anewbornscreeningspecimencardshouldbecompletedbetweenoneday(24hours)andsevendaysafterthebirthoftheinfant:ideally,betweentwodays

(48hours)andthreedays(72hours)afterbirth.Iftestedbefore24hoursofage,thebaby’shealthcareprovidershouldrepeatthetestwithinfivedays,atthefirstpostnatalcheck-up.

Bloodspotsfrominfantsarecollectedusingtheheel-prick method, which is detailed on the back of the specimencard.Ifyouareprovidingcareforaninfantwhoispremature(i.e.lessthan37weeksgestation),ill,hasbeentransfused,orhasbeenontotalparenteralnutrition(TPN)orantibiotics,pleaserefertotheSpecialConsiderations section on the next page.

Submitting cards: time is critical

It is critical that the Saskatchewan Disease Control Laboratory receives the newborn screening specimen card as soon as possible after the blood spots are collected.Therefore,thecardsshouldbesentnolaterthan24hoursaftercollectionand,ideally,assoonas thebloodspotsaredry(fourtosixhoursaftercollection). Babies with some of the conditions screened willstarttobecomeillandmaysufferirreversibledamage soon after birth. Rapid diagnosis and treatment can prevent this damage.

Screening test results: positive and negative

OncetheSaskatchewanDiseaseControlLaboratory hasreceivedandanalyzedthespecimencard,one ofthefollowingwilloccur:

NegativeTheinfantunderyourcare“screensnegative”forallconditions.Areportisissuedbymailtoboththereferringhospitalandshouldbefiledinthebaby’smedical records.

Repeat SampleIftheinitialsampleisinsufficientorunacceptable,or iftheresultsareequivocal,youwillbecontactedandasked to obtain another sample from the newborn as soonaspossibleandrepeatthesubmissionprocedure.

PositiveTheinfantunderyourcare“screenspositive”fora disorder. A screen positive does not necessarily meanthatthebabyhasadisorder,butthatitneedsfurtherinvestigation.TheSaskatchewanDiseaseControlLaboratorywillimmediatelynotifyyour

• A repeat sample is sometimes required

Itmaybethatthefirstsamplewasnottakenproperly, theamountofbloodtakenwasnotenoughtocomplete the testing, or there was some other problem with the sample.Ifrequested,arepeatbloodsampleshouldbe taken as soon as possible. • Discuss the difference between a screening test and a diagnostic test

A screening test determines if there is a high or low risk thatababyhasaparticularcondition.Onlyasubsequentdiagnostic test will determine with certainty if the baby is affected with a condition or not.

• Discuss possible results of screening

The baby screens negative for all disorders. A report isissuedbymailtothehealthcareprovider/referringhospital.Over99percentofbabieswhohavethenewbornscreenwillhaveanegativeresult.

The baby screens positive for one of the disorders. A screen positive does not necessarily mean that thebabyhastheconditionbutonlythatfurtherinvestigationisrequired.TheSaskatchewanDiseaseControl Laboratory will contact the Metabolic Clinic inSaskatoon,whichwill,inturn,immediatelynotifythebaby’shealthcareproviderorparentsaboutthescreenpositiveresultandarrangeforconfirmatorytesting.Ifadiagnosisofaconditionisconfirmed, theclinicwillprovidemanagementcounselling andfollow-up.

2 7

regional treatment centre (the Metabolic Clinic in Saskatoon) aboutthescreenpositiveresultandtheclinicwillarrangewithyouortheinfant’sparent(s)forconfirmatorytesting.Ifadiagnosisofadisorderisconfirmed,theclinicwillprovidemanagement,counsellingandfollow-up.Areportisalsoissuedbymail to the referring hospital and health care provider, andshouldbefiledinthebaby’smedicalrecords.

The screening test: there are limitationsIt’s important to remember that, as with all screening tests, there will be false positive and false negative results.Falsepositiveswillincreaseparentalanxiety,while false negatives will give a misleading sense ofreassurance.Ifababyinyourcareexhibitssymptomsofaparticulardisorder,butthenewbornscreenwasnegative,thechildshouldbeinvestigatedandmanagedappropriatelyandtherelevantconsultantspecialistshouldbecontactedimmediatelyforfurtheradvice.

There is wide clinical variation in some of the disorders that the newborn screen detects. Therefore, there will

beso-called“affected”individuals—babieswhoareconfirmedbydiagnostictestingtohaveaparticulardisorder—whowillremainasymptomaticevenwithouttreatment or will only have very mild symptoms.

Special considerations

Prematurity or illnessInfantswhoarepremature(i.e.lessthan37weeksgestation)orwhoaresickshouldhavetheirfirstspecimen collected for newborn screening when they arefivetosevendaysold.Prematureinfantswilloftenhaveahighthyroid-stimulatinghormone(TSH)leveland may screen positive for congenital hypothyroidism. However,onrepeatspecimens,resultscanbedifferentiatedintofalseandtruepositives.Prematurityorillnessinaninfantbeingscreenedshouldbeclearlyindicated on the newborn screening specimen card.

Total Parenteral Nutrition (TPN) and antibioticsThe Saskatchewan Disease Control Laboratory can analyzeheel-prickbloodspotsfrominfantswhohavehad TPN (hyperalimentation) or antibiotics. However, levels of certain amino acids and organic acids can be elevatedintheseinfants.Inordertoensurethemostaccurateanalysis,theadministrationofthesetherapiesshouldbeclearlyindicatedonthenewbornscreeningspecimen card. For additional information on newborn screening, visit www.health.gov.sk.ca/newborn-testing.

TransfusionsInfants who are affected with one of the disorders screened for by the Saskatchewan Disease Control Laboratory may be missed if they have had a recent bloodtransfusion.Normallevelsofnewbornscreeninganalytesmaybefoundinthesecasesbecause ofthedonorblood.Ideally,aspecimencardshould becompletedbeforetransfusion.

Disorders Screened

Organic Acid Disorders OrganicAcidemias(OA)areaclassofinheritedmetabolicdisordersthatoccurwhenthebodycannotmetabolizecertainaminoacidsandfats.Thisleadstoanaccumulationoforganicacidsinthebloodandurine,whichcancauseserioushealthproblems.ClinicalsymptomsofOAmayincludeacuteencephalopathy,

Discussion Guide

This discussion guide will help you to counsel your patients and answer their questions about newborn screening. The brochure Newborn Screening: A healthy start leads to a healthier life is also available to provide to your patient.

Health care providers offer newborn screening to all infantsborninSaskatchewan.Althoughscreeningforphenylketonuria(PKU)andcongenitalhypothyroidism(CH) have been offered in Saskatchewan since 1965 and 1978, respectively, newborn screening expanded to cover30plusdisorders.

Newborn screening is a strongly recommended part of neonatal care since babies affected with these disorders usually appear normal at birth. Unless they undergo screening, they may not be identified as

having a disorder until irreversible damage has occurred.

In many cases, preventive care can improve or maintain thequalityoflifeofthesebabiesandtheirfamilies.Forbabies who start to become ill soon after birth, newborn screeningmaysavevaluabletimeandresourcesinmakingadefinitediagnosis.Theseconditions,ifnottreated,areassociatedwithrecurrentillnessesand/ordevelopmental disabilities and/or death. Early diagnosis andtreatmentcanresultinanormaloutcome.That’swhyit’ssoimportanttodiscussnewbornscreeningwithyourpatients.

Points to discuss with expectant parents

• Offer newborn screening

Newborn screening is strongly recommended for all babies born in Saskatchewan as part of neonatal care. Resultsareveryaccurateandcover30plusdifferentconditions. These are disorders of metabolism and the endocrine system.

• Discuss the benefits of testing

Identifyingababywithoneofthedisordersisbeneficialbecauseearlydiagnosisandtreatmentcanpreventconsequencessuchasrecurrentillnessesand/ordevelopmental disabilities and/or death.

• Discuss how testing is done

The blood sample is obtained by pricking the baby’s heel. The blood is transferred to a special paper card and sent to the Saskatchewan Disease Control Laboratory.

• Testing must be timely

Acceptable samples can be taken between one day (24 hours)andsevendaysafterbirth,althoughthebesttime to collect the blood sample is when the baby is betweentwodays(48hours)andthreedays(72hours)old.Ifababyistestedbeforeoneday(24hours)ofage,thetestshouldberepeatedwithinfivedays,atthefirstpostnatalcheck-up.

Babies with some of the disorders screened will start tobecomeillandmaysufferirreversibledamagerightfrom birth. Rapid diagnosis and treatment can prevent this damage.

36

Examples:

Phenylketonuria (PKU) is a condition in which individualscannotusephenylalanineproperlysoitbuildsupintheblood(hyperphenylalaninemia).Withouttreatment,phenylalanineaccumulationwillcausesevereandirreversibledevelopmentaldisabilities,eczema,andotherproblems.SaskatchewanhasscreenedforPKUsince1965.

Tyrosinemia (TYR)occurswhentyrosinecannotbeproperlymetabolized,leadingtoanaccumulationofthisamino acid and its metabolites in the liver, kidneys, andthecentralnervoussystem,causingliverdisease and other problems.

Homocystinuria (HCY)occurswhenhomocystineaccumulatesintheurine.Itiscausedmostcommonly byadeficiencyinanenzymecalledcystathioninebeta-synthase (CBS). Affected babies can have developmentaldisabilitiesandfailuretothrive.Theymay also develop eye problems, skeletal problems, and a high chance of developing blood clots.

Citrullinemia (CIT) and argininosuccinic acidemia (ASA) areureacycledefects.Theureacycleis the body’s system for excreting waste nitrogen and ammonia,andforsynthesizingarginineandurea.Hyperammonemiaresultswhenoneoftheenzymesintheureacyclefunctionsimproperly.Symptomscanincludelethargy,vomiting,coma,seizures,liverdisease,failuretothrive,anddeath.

Maple syrup urine disease (MSUD) occurswhentheaminoacids,leucine,isoleucine,andvalinecannotbemetabolized.Symptomsincludepoorfeeding,lethargy,convulsions,andevendeath.Theurineofanaffectedchildcanhavetheodourofburntsugarormaplesyrup,giving the disorder its name.

Other Disorders Congenital hypothyroidism (CH) cancausedevelopmentaldisabilitiesandfailuretothriveifnotrecognizedandtreated.Itisarelativelycommonconditionandistheresultofathyroidhormonedeficiency.SaskatchewanhasscreenedforCHbymeasuringthyroidstimulatinghormone(TSH)levels in blood since 1978. Thyroid hormone replacement is a very effective treatment.

Congenital adrenal hyperplasia (CAH) is an inherited defect in which the adrenal gland cannot make cortisol andoverproducesmalehormones.Withoutcortisol,infantsmaybeunabletoregulatesaltandfluids, and can die. Some newborns with CAH can be symptomaticatbirthwithvirilizationoffemales.Replacementofdeficienthormonesisaneffectivemeans of preventing a salt-wasting crisis and preventing long-term complications.

Biotinidase deficiency (BIOT) - Biotinidase is essential for the recycling of the vitamin biotin, which, inturn,isanenzymecofactor.Theseenzymes,thecarboxylases,areimportantintheproductionofcertainfats and carbohydrates and for the breakdown of proteins.Featuresofthisdisorderincludeneurologicalsymptoms,suchasdevelopmentaldisabilitiesandseizures,andcutaneoussymptoms,suchashairloss and skin rash, which can be effectively treated with biotinsupplementation.

Cystic fibrosis (CF) is an inherited disease that affects thelungsanddigestivesystem.Thebodyproducesthickmucusthatmayinterferewithlungfunctionand/ordigestion. Approximately one in 3600 children born in Canada has CF.

Galactosemia (GALT)—Lactoseisthemainsugarinbreastmilk,cow’smilk,andmanyinfantformulas.Thissugarismetabolizedintoglucoseandgalactoseintheintestine.Individualswithgalactosemiaarenotabletobreakdowngalactose.Thiscanresultinlife-threateningcomplicationsincludingfeedingproblems,failuretothrive,liverdamage,bleeding,andsepsisinuntreatedinfants.Adietrestrictedinlactoseisveryeffective in preventing these complications. Even with early treatment, however, children with galactosemia are at increased risk for developmental disabilities, speech problems,abnormalitiesofmotorfunctionsand,infemales,prematureovarianfailure.

Please note: The disorders for which the Saskatchewan Disease Control Laboratory screens may change over time. For the most current list, please check the Saskatchewan Disease Control website at www.health.gov.sk.ca/lab

vomiting, metabolic acidosis, ketosis, dehydration or coma, hyperammonemia, lactic acidosis, hypoglycemia, failuretothrive,hypotonia,globaldevelopmentaldelay,sepsis, hematological disorders, and death. Newborns withOAsareperfectlyhealthyatbirth,butmaybecomequiteillwithinthefirstfewdaysoflife,evenbeforetheresultsofthenewbornscreeningareknown.Treatmentoften involves a low-protein diet and/or a diet low inspecificaminoacidsand/ordietarysupplements(suchascarnitine,biotin,riboflavin),medicalfoodsor other medications. It is very important for affected individualstoavoidfasting.IncludedintheOAsforwhich Saskatchewan screens are isovaleric acidemia (IVA),glutaricacidemiatype1(GA1),HMG-CoAlyasedeficiency(HMG),multiplecarboxylasedeficiency(MCD), methylmalonic acidemia, 3-Methylcrotonyl-CoAcarboxylase(MCC)deficiency,propionicacidemia(PROP),B-Ketothiolase(BKT)deficiency,anddienoylCoAreductasedeficiency.

Fatty Acid Oxidation Defects (FAODs) The breakdown of fatty acids in the mitochondria isanessentialpartofthebody’sabilitytoproduceenergy, especially if an infant has nothing to eat for morethanafewhours,forinstance,duringillness.Fatty acids are transported into the cell and then into themitochondria.Onceinthemitochondria,thecarbonchainsorfattyacidsaremetabolizedtwoatatime,usingspecificenzymes.Ifthetransportermolecule(s)oranyoftheenzymesusedtoreducethenumberof

carbonsinthechainaremissing,anaccumulationoffattyacidsinthebodyoccursandcauseshypoketotichypoglycemiaandtissuedamage,especiallyliver,muscle,andheartdisease.Lethargy,seizures,coma, andsuddendeatharealsosignsofFAODs.AnundiagnosedFAODcanpresentassuddeninfantdeathsyndrome(SIDS).Dietarysupplementationwithcarnitine and/or cornstarch may also be part of the treatmentforFAODs.Itisveryimportantforaffectedindividualstoavoidfasting.

IncludedintheFAODsforwhichSaskatchewan screensaremediumchainandshortchain acyl-CoA dehydrogenase (MCAD) and SCAD deficiency,verylongchainacyl-CoAdehydrogenase(VLCAD)deficiency,longchain3-Hydroxyacyl-CoAdehydrogenase(LCHAD)deficiency,trifunctionalprotein(TFP)deficiency,andcarnitineuptake defect (CUD).

Amino Acid Disorders Thesedisordersoccurwhenthebodycannoteithermetabolizeorproducecertainaminoacids,resulting inthetoxicaccumulationofsomesubstancesandthedeficiencyofothersubstances.Aminoacidsarederivedfrom protein. Treatment often involves a low-protein dietand/oradietlowinspecificaminoacids.Specificmedications and/or vitamins may also be prescribed, depending on the disorder. It is very important for affectedindividualstoavoidfasting.

4 5

Examples:

Phenylketonuria (PKU) is a condition in which individualscannotusephenylalanineproperlysoitbuildsupintheblood(hyperphenylalaninemia).Withouttreatment,phenylalanineaccumulationwillcausesevereandirreversibledevelopmentaldisabilities,eczema,andotherproblems.SaskatchewanhasscreenedforPKUsince1965.

Tyrosinemia (TYR)occurswhentyrosinecannotbeproperlymetabolized,leadingtoanaccumulationofthisamino acid and its metabolites in the liver, kidneys, andthecentralnervoussystem,causingliverdisease and other problems.

Homocystinuria (HCY)occurswhenhomocystineaccumulatesintheurine.Itiscausedmostcommonly byadeficiencyinanenzymecalledcystathioninebeta-synthase (CBS). Affected babies can have developmentaldisabilitiesandfailuretothrive.Theymay also develop eye problems, skeletal problems, and a high chance of developing blood clots.

Citrullinemia (CIT) and argininosuccinic acidemia (ASA) areureacycledefects.Theureacycleis the body’s system for excreting waste nitrogen and ammonia,andforsynthesizingarginineandurea.Hyperammonemiaresultswhenoneoftheenzymesintheureacyclefunctionsimproperly.Symptomscanincludelethargy,vomiting,coma,seizures,liverdisease,failuretothrive,anddeath.

Maple syrup urine disease (MSUD) occurswhentheaminoacids,leucine,isoleucine,andvalinecannotbemetabolized.Symptomsincludepoorfeeding,lethargy,convulsions,andevendeath.Theurineofanaffectedchildcanhavetheodourofburntsugarormaplesyrup,giving the disorder its name.

Other Disorders Congenital hypothyroidism (CH) cancausedevelopmentaldisabilitiesandfailuretothriveifnotrecognizedandtreated.Itisarelativelycommonconditionandistheresultofathyroidhormonedeficiency.SaskatchewanhasscreenedforCHbymeasuringthyroidstimulatinghormone(TSH)levels in blood since 1978. Thyroid hormone replacement is a very effective treatment.

Congenital adrenal hyperplasia (CAH) is an inherited defect in which the adrenal gland cannot make cortisol andoverproducesmalehormones.Withoutcortisol,infantsmaybeunabletoregulatesaltandfluids, and can die. Some newborns with CAH can be symptomaticatbirthwithvirilizationoffemales.Replacementofdeficienthormonesisaneffectivemeans of preventing a salt-wasting crisis and preventing long-term complications.

Biotinidase deficiency (BIOT) - Biotinidase is essential for the recycling of the vitamin biotin, which, inturn,isanenzymecofactor.Theseenzymes,thecarboxylases,areimportantintheproductionofcertainfats and carbohydrates and for the breakdown of proteins.Featuresofthisdisorderincludeneurologicalsymptoms,suchasdevelopmentaldisabilitiesandseizures,andcutaneoussymptoms,suchashairloss and skin rash, which can be effectively treated with biotinsupplementation.

Cystic fibrosis (CF) is an inherited disease that affects thelungsanddigestivesystem.Thebodyproducesthickmucusthatmayinterferewithlungfunctionand/ordigestion. Approximately one in 3600 children born in Canada has CF.

Galactosemia (GALT)—Lactoseisthemainsugarinbreastmilk,cow’smilk,andmanyinfantformulas.Thissugarismetabolizedintoglucoseandgalactoseintheintestine.Individualswithgalactosemiaarenotabletobreakdowngalactose.Thiscanresultinlife-threateningcomplicationsincludingfeedingproblems,failuretothrive,liverdamage,bleeding,andsepsisinuntreatedinfants.Adietrestrictedinlactoseisveryeffective in preventing these complications. Even with early treatment, however, children with galactosemia are at increased risk for developmental disabilities, speech problems,abnormalitiesofmotorfunctionsand,infemales,prematureovarianfailure.

Please note: The disorders for which the Saskatchewan Disease Control Laboratory screens may change over time. For the most current list, please check the Saskatchewan Disease Control website at www.health.gov.sk.ca/lab

vomiting, metabolic acidosis, ketosis, dehydration or coma, hyperammonemia, lactic acidosis, hypoglycemia, failuretothrive,hypotonia,globaldevelopmentaldelay,sepsis, hematological disorders, and death. Newborns withOAsareperfectlyhealthyatbirth,butmaybecomequiteillwithinthefirstfewdaysoflife,evenbeforetheresultsofthenewbornscreeningareknown.Treatmentoften involves a low-protein diet and/or a diet low inspecificaminoacidsand/ordietarysupplements(suchascarnitine,biotin,riboflavin),medicalfoodsor other medications. It is very important for affected individualstoavoidfasting.IncludedintheOAsforwhich Saskatchewan screens are isovaleric acidemia (IVA),glutaricacidemiatype1(GA1),HMG-CoAlyasedeficiency(HMG),multiplecarboxylasedeficiency(MCD), methylmalonic acidemia, 3-Methylcrotonyl-CoAcarboxylase(MCC)deficiency,propionicacidemia(PROP),B-Ketothiolase(BKT)deficiency,anddienoylCoAreductasedeficiency.

Fatty Acid Oxidation Defects (FAODs) The breakdown of fatty acids in the mitochondria isanessentialpartofthebody’sabilitytoproduceenergy, especially if an infant has nothing to eat for morethanafewhours,forinstance,duringillness.Fatty acids are transported into the cell and then into themitochondria.Onceinthemitochondria,thecarbonchainsorfattyacidsaremetabolizedtwoatatime,usingspecificenzymes.Ifthetransportermolecule(s)oranyoftheenzymesusedtoreducethenumberof

carbonsinthechainaremissing,anaccumulationoffattyacidsinthebodyoccursandcauseshypoketotichypoglycemiaandtissuedamage,especiallyliver,muscle,andheartdisease.Lethargy,seizures,coma, andsuddendeatharealsosignsofFAODs.AnundiagnosedFAODcanpresentassuddeninfantdeathsyndrome(SIDS).Dietarysupplementationwithcarnitine and/or cornstarch may also be part of the treatmentforFAODs.Itisveryimportantforaffectedindividualstoavoidfasting.

IncludedintheFAODsforwhichSaskatchewan screensaremediumchainandshortchain acyl-CoA dehydrogenase (MCAD) and SCAD deficiency,verylongchainacyl-CoAdehydrogenase(VLCAD)deficiency,longchain3-Hydroxyacyl-CoAdehydrogenase(LCHAD)deficiency,trifunctionalprotein(TFP)deficiency,andcarnitineuptake defect (CUD).

Amino Acid Disorders Thesedisordersoccurwhenthebodycannoteithermetabolizeorproducecertainaminoacids,resulting inthetoxicaccumulationofsomesubstancesandthedeficiencyofothersubstances.Aminoacidsarederivedfrom protein. Treatment often involves a low-protein dietand/oradietlowinspecificaminoacids.Specificmedications and/or vitamins may also be prescribed, depending on the disorder. It is very important for affectedindividualstoavoidfasting.

4 5

regional treatment centre (the Metabolic Clinic in Saskatoon) aboutthescreenpositiveresultandtheclinicwillarrangewithyouortheinfant’sparent(s)forconfirmatorytesting.Ifadiagnosisofadisorderisconfirmed,theclinicwillprovidemanagement,counsellingandfollow-up.Areportisalsoissuedbymail to the referring hospital and health care provider, andshouldbefiledinthebaby’smedicalrecords.

The screening test: there are limitationsIt’s important to remember that, as with all screening tests, there will be false positive and false negative results.Falsepositiveswillincreaseparentalanxiety,while false negatives will give a misleading sense ofreassurance.Ifababyinyourcareexhibitssymptomsofaparticulardisorder,butthenewbornscreenwasnegative,thechildshouldbeinvestigatedandmanagedappropriatelyandtherelevantconsultantspecialistshouldbecontactedimmediatelyforfurtheradvice.

There is wide clinical variation in some of the disorders that the newborn screen detects. Therefore, there will

beso-called“affected”individuals—babieswhoareconfirmedbydiagnostictestingtohaveaparticulardisorder—whowillremainasymptomaticevenwithouttreatment or will only have very mild symptoms.

Special considerations

Prematurity or illnessInfantswhoarepremature(i.e.lessthan37weeksgestation)orwhoaresickshouldhavetheirfirstspecimen collected for newborn screening when they arefivetosevendaysold.Prematureinfantswilloftenhaveahighthyroid-stimulatinghormone(TSH)leveland may screen positive for congenital hypothyroidism. However,onrepeatspecimens,resultscanbedifferentiatedintofalseandtruepositives.Prematurityorillnessinaninfantbeingscreenedshouldbeclearlyindicated on the newborn screening specimen card.

Total Parenteral Nutrition (TPN) and antibioticsThe Saskatchewan Disease Control Laboratory can analyzeheel-prickbloodspotsfrominfantswhohavehad TPN (hyperalimentation) or antibiotics. However, levels of certain amino acids and organic acids can be elevatedintheseinfants.Inordertoensurethemostaccurateanalysis,theadministrationofthesetherapiesshouldbeclearlyindicatedonthenewbornscreeningspecimen card. For additional information on newborn screening, visit www.health.gov.ca/newborn-testing.

TransfusionsInfants who are affected with one of the disorders screened for by the Saskatchewan Disease Control Laboratory may be missed if they have had a recent bloodtransfusion.Normallevelsofnewbornscreeninganalytesmaybefoundinthesecasesbecause ofthedonorblood.Ideally,aspecimencardshould becompletedbeforetransfusion.

Disorders Screened

Organic Acid Disorders OrganicAcidemias(OA)areaclassofinheritedmetabolicdisordersthatoccurwhenthebodycannotmetabolizecertainaminoacidsandfats.Thisleadstoanaccumulationoforganicacidsinthebloodandurine,whichcancauseserioushealthproblems.ClinicalsymptomsofOAmayincludeacuteencephalopathy,

Discussion Guide

This discussion guide will help you to counsel your patients and answer their questions about newborn screening. The brochure Newborn Screening: A healthy start leads to a healthier life is also available to provide to your patient.

Health care providers offer newborn screening to all infantsborninSaskatchewan.Althoughscreeningforphenylketonuria(PKU)andcongenitalhypothyroidism(CH) have been offered in Saskatchewan since 1965 and 1978, respectively, newborn screening expanded to cover30plusdisorders.

Newborn screening is a strongly recommended part of neonatal care since babies affected with these disorders usually appear normal at birth. Unless they undergo screening, they may not be identified as

having a disorder until irreversible damage has occurred.

In many cases, preventive care can improve or maintain thequalityoflifeofthesebabiesandtheirfamilies.Forbabies who start to become ill soon after birth, newborn screeningmaysavevaluabletimeandresourcesinmakingadefinitediagnosis.Theseconditions,ifnottreated,areassociatedwithrecurrentillnessesand/ordevelopmental disabilities and/or death. Early diagnosis andtreatmentcanresultinanormaloutcome.That’swhyit’ssoimportanttodiscussnewbornscreeningwithyourpatients.

Points to discuss with expectant parents

• Offer newborn screening

Newborn screening is strongly recommended for all babies born in Saskatchewan as part of neonatal care. Resultsareveryaccurateandcover30plusdifferentconditions. These are disorders of metabolism and the endocrine system.

• Discuss the benefits of testing

Identifyingababywithoneofthedisordersisbeneficialbecauseearlydiagnosisandtreatmentcanpreventconsequencessuchasrecurrentillnessesand/ordevelopmental disabilities and/or death.

• Discuss how testing is done

The blood sample is obtained by pricking the baby’s heel. The blood is transferred to a special paper card and sent to the Saskatchewan Disease Control Laboratory.

• Testing must be timely

Acceptable samples can be taken between one day (24 hours)andsevendaysafterbirth,althoughthebesttime to collect the blood sample is when the baby is betweentwodays(48hours)andthreedays(72hours)old.Ifababyistestedbeforeoneday(24hours)ofage,thetestshouldberepeatedwithinfivedays,atthefirstpostnatalcheck-up.

Babies with some of the disorders screened will start tobecomeillandmaysufferirreversibledamagerightfrom birth. Rapid diagnosis and treatment can prevent this damage.

36

Newborn screening: a healthy start leads to a healthier life

Since the mid-1960s, health care providers have offerednewbornscreeningforphenylketonuria(PKU)to all infants born in Saskatchewan. Today, newborn screeninghasexpandedtoscreenforatleast30plusmetabolicandendocrinedisorders.Individually,thesedisordersarerare,butwill,asagroup,affecteightto10outof13,000newbornsintheprovinceeachyear.

The Saskatchewan Disease Control Laboratory in Reginaconductsalltestingforcongenitaldisorders.

Early detection. Early treatment.

Big benefits.

Thesebabiesappearnormalatbirthand,unlesstheyarescreened,mightotherwisenotbeidentifiedtohaveone ofthesedisordersuntilirreversibledamagehasoccurred.Ifnottreated,theseconditionsareassociatedwithrecurrentillnessesand/ordevelopmentaldisabilities and/or death. Early diagnosis and treatment canresultinsignificantlyimprovedorpositiveoutcomes.Insome,preventivecarecanimproveormaintainthequalityoflifeofthesebabies.Forbabieswho start to become ill soon after birth, newborn screeningmaysavevaluabletimeandresourcesinmakingadefinitediagnosis.

Informed parents make smart choices

It’simportantthatyou,asahealthcareprovider,emphasizetoparentsthatnewbornscreeningispart oftheirbaby’sroutinecareandcouldsavetheirbaby’slifeand/orpreventserioushealthproblems.Thevastmajority of parents agree to have their baby screened. Shouldaparentrefusenewbornscreening,thedecisionshouldbedocumentedinthebaby’smedicalrecordsandtheparentswillberequiredtosignarefusalform.

What health care providers need to do

Anewbornscreeningspecimencardshouldbecompletedbetweenoneday(24hours)andsevendaysafterthebirthoftheinfant:ideally,betweentwodays

(48hours)andthreedays(72hours)afterbirth.Iftestedbefore24hoursofage,thebaby’shealthcareprovidershouldrepeatthetestwithinfivedays,atthefirstpostnatalcheck-up.

Bloodspotsfrominfantsarecollectedusingtheheel-prick method, which is detailed on the back of the specimencard.Ifyouareprovidingcareforaninfantwhoispremature(i.e.lessthan37weeksgestation),ill,hasbeentransfused,orhasbeenontotalparenteralnutrition(TPN)orantibiotics,pleaserefertotheSpecialConsiderations section on the next page.

Submitting cards: time is critical

It is critical that the Saskatchewan Disease Control Laboratory receives the newborn screening specimen card as soon as possible after the blood spots are collected.Therefore,thecardsshouldbesentnolaterthan24hoursaftercollectionand,ideally,assoonas thebloodspotsaredry(fourtosixhoursaftercollection). Babies with some of the conditions screened willstarttobecomeillandmaysufferirreversibledamage soon after birth. Rapid diagnosis and treatment can prevent this damage.

Screening test results: positive and negative

OncetheSaskatchewanDiseaseControlLaboratory hasreceivedandanalyzedthespecimencard,one ofthefollowingwilloccur:

NegativeTheinfantunderyourcare“screensnegative”forallconditions.Areportisissuedbymailtoboththereferringhospitalandshouldbefiledinthebaby’smedical records.

Repeat SampleIftheinitialsampleisinsufficientorunacceptable,or iftheresultsareequivocal,youwillbecontactedandasked to obtain another sample from the newborn as soonaspossibleandrepeatthesubmissionprocedure.

PositiveTheinfantunderyourcare“screenspositive”fora disorder. A screen positive does not necessarily meanthatthebabyhasadisorder,butthatitneedsfurtherinvestigation.TheSaskatchewanDiseaseControlLaboratorywillimmediatelynotifyyour

• A repeat sample is sometimes required

Itmaybethatthefirstsamplewasnottakenproperly, theamountofbloodtakenwasnotenoughtocomplete the testing, or there was some other problem with the sample.Ifrequested,arepeatbloodsampleshouldbe taken as soon as possible. • Discuss the difference between a screening test and a diagnostic test

A screening test determines if there is a high or low risk thatababyhasaparticularcondition.Onlyasubsequentdiagnostic test will determine with certainty if the baby is affected with a condition or not.

• Discuss possible results of screening

The baby screens negative for all disorders. A report isissuedbymailtothehealthcareprovider/referringhospital.Over99percentofbabieswhohavethenewbornscreenwillhaveanegativeresult.

The baby screens positive for one of the disorders. A screen positive does not necessarily mean that thebabyhastheconditionbutonlythatfurtherinvestigationisrequired.TheSaskatchewanDiseaseControl Laboratory will contact the Metabolic Clinic inSaskatoon,whichwill,inturn,immediatelynotifythebaby’shealthcareproviderorparentsaboutthescreenpositiveresultandarrangeforconfirmatorytesting.Ifadiagnosisofaconditionisconfirmed, theclinicwillprovidemanagementcounselling andfollow-up.

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Newborn Screening in Saskatchewan Information for Health Care Providers

Resources

For more information on Saskatchewan’s newborn screening and the conditions screened for by the test, please visit www.health.gov.sk.ca/newborn-testing, or contact the Saskatchewan Disease Control Laboratory at (306) 787-3142 or (306) 787-7900.

Saskatchewan Disease Control Laboratory Saskatchewan Ministry of HealthLloyd Place 3211 Albert StreetRegina, SaskatchewanS4S 5W6

New address in the fall 2009

Other resources

• AmericanAcademyofPediatrics: www.aap.org/healthtopics/newbornscreening.cfm

• OrphaNet(informationaboutraredisorders): www.orpha.net

• NationalOrganizationforRareDisorders(NORD): www.rarediseases.org/search/rdblist.html

UsedandadaptedwithpermissionfromtheGovernmentofOntario.

June/09