Andersons pediatric cardiology 213
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firsttrimester,from10to13weeksofgestation,hasnowemergedasan
importantindicationforfetalechocardiography.Indeed,increasednuchal
translucencyofgreaterthan3mmasseenduringscanningwhenthefetusis
from10to14weeksofageisapublishedmarkerforaneuploidy.18–23Evenin
theabsenceofachromosomalanomaly,fetusesfoundtohaveincreasednuchal
translucencyonearlyscanninghavebeenshowntobeatincreasedriskfor
congenitalcardiacdisease.24–26Fetusesconceivedviaartificialfertilization,
particularlywhenintracytoplasmicinjectionofspermisused,haveatwofold
increasedriskofmajorbirthdefects,includingcongenitalcardiacdisease,
comparedwithinfantsconceivednaturally.27Thereforefetalechocardiography
hasemergedasabenefittothisgroupofpatients.
Box8.1
IndicationsforFetalEchocardiography
MaternalIndications
■Familyhistoryofcongenitalcardiacdisease
■Metabolicdisorders,suchasphenylketonuriaordiabetes
■Exposuretoteratogens
■Exposuretoinhibitorsofprostaglandinsynthetase,suchasibuprofen,
salicylicacid,orindomethacin
■Infectionwithrubella
■Autoimmunedisease,suchassystemiclupuserythematosus,orSjögren
syndrome
■Familialinheriteddisorders,suchasEllisvanCreveldsyndrome,Marfan
syndrome,orNoonansyndrome
■Artificialfertilization
FetalIndications
■Abnormalresultfollowingobstetricultrasonicscreening
■Extracardiacabnormality
■Chromosomalabnormality
■Arrhythmia
■Hydrops
■Increasednuchaltranslucencyinfirsttrimester
■Multiplegestationandtwin-twintransfusion
TimingofFetalEchocardiography
Fetalechocardiographyisbestperformedbetween18and22weeks’gestation.
Atthisgestationalagethereisadequateamnioticfluidtoallowgood
visualizationofthecardiacstructuresandvasculature.After30weeks’gestation,
increaseinthefetalbodymassandtheshadowingeffectsofthefetalribsmay
maketheacquisitionofimagesmoredifficult.Maternaltransabdominalfetal
imagingmaybeperformedbetween15and18weeks’gestation,although
visualizationmaybesuboptimal.Atsomecenters,first-trimesterscreeningfor
congenitalheartdiseasemayoccurasearlyas10to14weeks’gestation,
especiallyinpopulationsknowntobeathighrisk,suchasthosenotedtohave
increasednuchaltranslucencyduringscanningat10to14weeks,thosewith
suspectedaneuploidy,orthosewithafamilyhistoryofcongenitalcardiac
disease.28Feasibilitystudieshavedemonstratedadequateimageacquisitionat
thesegestationalagesforbothmaternaltransabdominalandtransvaginal
imaging.28–30Atsomecenterswithexperiencedpractitioners,theprenatal
detectionrateformajorcongenitalheartdiseaseexceeds86%to90%withinthe
firsttrimester.29,30
