Introduction
“Screening”inthefieldofpediatriccardiologyiscurrentlyimplementedin
manydifferentareas.Theinterestandopportunitiesforscreeninghaveincreased
andevolvedalongwiththeincreaseinourknowledgebase.Screeningcurrently
includesinuteroscreeningforcongenitalheartdisease(CHD),pulseoximetry
afterbirthscreeningforCHD,screeningforat-riskentitiesforsuddencardiac
death,screeningforneurodevelopmentalissues,screeningforfamilialformsof
CHD,andscreeningforotherfamilial,genetic,andpreventiveissuessuchasthe
hyperlipidemias,aswellasenvironmentalissuessuchashypertensionand
metabolicdisorders.Thischapterreviewsthesecomplexissuesandsuggests
potentialfutureendeavorsintheseareas.
FetalEchocardiographicScreening(see
alsoChapters7and8)
Malformationsofthecardiovascularsystemaresomeofthemostcommonbirth
defects.TheincidenceofCHDinthelive-bornpopulationisestimatedat
slightlylessthan1%.1However,theincidenceofCHDinthefetusmaybe
significantlyhigher,ascardiacdefectsareestimatedtobemuchmorefrequentin
stillborninfants.2,3
Detectingacardiacdefect,ifpresent,inthefetusisdependentonthetiming
oftheexamination,thetrainingandexperienceoftheultrasonographerand
interpretingphysician,andtheequipmentuse.4–6Atminimum,two-dimensional,
colorandspectralDopplershouldbeused.Astheechocardiographicappearance
ofsomecongenitalheartdefectscanchangethroughoutgestation,oneexamat
onetimepointmaynotbesufficient.
Accurateandsensitivefetaldiagnosisisimportantastheprenataldiagnosisof
CHDcanaffectnotonlythefamily'sdesiretocontinuewiththepregnancybut
canallowforplanningdeliveryatornearacardiacsurgicalcenter,psychological
preparationofthefamilypriortodelivery,aswellassurgicalplanning.7Over
recentyears,criteriaforfetalechocardiographicscreeningoffetusesathigher
riskofCHDhavebeenestablished(Table89.1).8Forthesehigher-risk
pregnancies,athoroughfetalechocardiogramshouldbeperformedinthesecond
trimester.
Table89.1
IndicationsforFetalEchocardiography
IndicationforFetalEchocardiography
MATERNAL/FAMILIALINDICATIONS
Maternalpregestationaldiabetesmellitus(diabetes
mellitusdiagnosedinthefirsttrimester)
Maternalphenylketonuria
Maternalautoantibodies(SSA/SSB+)
Maternalmedications
Angiotensin-convertingenzymeinhibitors
Retinoicacid
Nonsteroidalantiinflammatorydrugs
Anticonvulsants
RiskofCongenitalHeartDisease(%)
3%–5%
12%–14%
1%–5%(increasedto11%–19%ifpriorchildaffected
withcongenitalheartblockorneonatallupus)
2.9%
8%–20%
1%–2%structuralCHD,5%–50%ductalconstriction
1.8%
Lithium
VitaminA
Paroxetine
Maternalrubellainfection
Maternalinfectionwithsuspicionoffetalmyocarditis
Assistedreproductiontechnology
CHDinfirst-degreerelativeoffetus
First-orsecond-degreerelativewithdisorderwith
mendelianinheritancewithCHDassociation
CHDinsecond-degreerelativeoffetus(lessrisk,may
beindicated)
FETALINDICATIONS
Cardiacabnormalitysuspectedonobstetrical
ultrasound
Extracardiacabnormalitysuspectedonobstetrical
ultrasound
Fetalkaryotypeabnormality
Fetaltachycardiaorbradycardia
Frequentorpersistentirregularheartrhythm
Fetalincreasednuchaltranslucency(≥3mm)
Monochorionictwinning
Fetalhydropsoreffusions
<2%
1.8%
1%–2%
1%–2%
1%–2%
1.1%–3.3%
2%–18%
≤50%
<2%
>40%
20%–45%
Varies.Maybeashighas90%
Tachycardia1%forstructuralCHD,50%–55%
bradycardia
0.3%–2%
3%–60%(riskincreasedwithincreasedthickness)
2%–10%
15%–25%
CHD,Congenitalheartdisease.
FromDonofrioMT,Moon-GradyAJ,HornbergerLK,etal.Diagnosisandtreatmentoffetalcardiac
disease:ascientificstatementfromtheAmericanHeartAssociation.Circulation.
2014;129(21):2183–2242.
However,approximately80%ofchildrenwithCHDareborntomotherswho
havenoriskfactorsforCHDintheiroffspring9–11andarethereforelowrisk.
Whileidealprenatalultrasoundcanprovidedetectionratesashighas85%,the
populationdetectionrateofCHDis30%to50%inmostdeveloped
countries.12–16Barrierstodiagnosisincludelaterinitiationofprenatalcare,
maternalresidenceinanareawithahighincidenceofpoverty,andahigher
numberofpreviouspregnancies.16Cost-effectiveanalysissimulationshave
identifiedthatthemostcost-effectivestrategyforprenatalscreeningofCHDisa
four-chamberandoutflowtractviewinthesecondtrimesterwithdirectreferral
toapediatriccardiologistifabnormalitiesarefound.17Tomaximizetheprenatal
diagnosisofCHD,theAmericanInstituteofUltrasoundMedicinehas
recommendedthatanatomicscreeningforallpregnanciesincludeafourchamberviewandoutflowtractviews(AmericanInstituteofUltrasoundin
Medicinepracticeparameter).Theadditionofoutflowtractviewstothefourchamberviewhasanestimatedsensitivityof67%withaspecificityof
99%.5,6,18–21