2022
Impact of prenatally diagnosed congenital heart defects on outcomes and management
Wong J, Kohari K, Bahtiyar MO, Copel J. Impact of prenatally diagnosed congenital heart defects on outcomes and management. Journal Of Clinical Ultrasound 2022, 50: 646-654. PMID: 35543387, DOI: 10.1002/jcu.23219.Peer-Reviewed Original ResearchMeSH KeywordsChildEchocardiographyFemaleFetal HeartHeart Defects, CongenitalHumansInfant, NewbornPregnancyReferral and ConsultationUltrasonography, PrenatalConceptsCongenital heart defectsComplex congenital heart defectEarly fetal echocardiographyImproved survival ratesPrenatal detection rateGood psychosocial supportFetal echocardiogramFetal echocardiographyPatient educationCardiology specialistsHigh riskHeart defectsSurvival rateCongenital heartPsychosocial supportEarly detectionPrenatal identificationPrenatal detectionDelivery planningDetection rateUltrasound technologyImportant contributorEchocardiogramEchocardiographyNeonates
2021
Utility of routine screening fetal echocardiogram in pregnancies conceived by in vitro fertilization
Bjorkman KR, Bjorkman SH, Ferdman DJ, Sfakianaki AK, Copel JA, Bahtiyar MO. Utility of routine screening fetal echocardiogram in pregnancies conceived by in vitro fertilization. Fertility And Sterility 2021, 116: 801-808. PMID: 34210397, DOI: 10.1016/j.fertnstert.2021.04.035.Peer-Reviewed Original ResearchConceptsFetal echocardiogramIncidence of CHDFetal echocardiographyIVF pregnanciesRisk factorsIVF groupInsignificant ventricular septal defectsLarge tertiary care centerStatewide hospital discharge dataMean gestational ageTertiary care centerCases of CHDHospital discharge dataRoutine prenatal careVentricular septal defectConfidence intervalsPopulation ratesBirth Defects RegistrySignificant CHDMedication exposureCohort studyPulmonary stenosisPrevious pregnancyGestational ageInfant outcomes
2020
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.Peer-Reviewed Original ResearchMeSH KeywordsConnectomeDNA HelicasesDNA-Binding ProteinsExomeFemaleHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseHomeodomain ProteinsHumansMaleMi-2 Nucleosome Remodeling and Deacetylase ComplexMutationMutation, MissenseMyeloid-Lymphoid Leukemia ProteinNerve Tissue ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 11Receptor, Notch1ConceptsDe novo variantsNDD genesCardiac patterningDe novo damaging variantsDamaging de novo variantsCHD genesDamaging variantsGenesProtein truncatingGenetic originNovo variantsGene mutationsPatterningRecent studiesDendritic developmentVariantsMutationsNeurogenesisSynaptogenesisBonferroni correction
2013
ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart
International Society of Ultrasound in Obstetrics and Gynecology, Carvalho J, Allan L, Chaoui R, Copel J, DeVore G, Hecher K, Lee W, Munoz H, Paladini D, Tutschek B, Yagel S. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound In Obstetrics And Gynecology 2013, 41: 348-359. PMID: 23460196, DOI: 10.1002/uog.12403.Commentaries, Editorials and Letters
2011
Assessment of the fetal thymus by two‐ and three‐dimensional ultrasound during normal human gestation and in fetuses with congenital heart defects
Li L, Bahtiyar M, Buhimschi C, Zou L, Zhou Q, Copel J. Assessment of the fetal thymus by two‐ and three‐dimensional ultrasound during normal human gestation and in fetuses with congenital heart defects. Ultrasound In Obstetrics And Gynecology 2011, 37: 404-409. PMID: 20886509, DOI: 10.1002/uog.8853.Peer-Reviewed Original Research
2009
Proteomic-Based Detection of a Protein Cluster Dysregulated during Cardiovascular Development Identifies Biomarkers of Congenital Heart Defects
Nath AK, Krauthammer M, Li P, Davidov E, Butler LC, Copel J, Katajamaa M, Oresic M, Buhimschi I, Buhimschi C, Snyder M, Madri JA. Proteomic-Based Detection of a Protein Cluster Dysregulated during Cardiovascular Development Identifies Biomarkers of Congenital Heart Defects. PLOS ONE 2009, 4: e4221. PMID: 19156209, PMCID: PMC2626248, DOI: 10.1371/journal.pone.0004221.Peer-Reviewed Original ResearchConceptsCardiovascular developmentMass spectrometry-based proteomicsSpectrometry-based proteomicsNormal cardiovascular developmentAdhesion/migrationHuman CHDsProteomic datasetsHeart developmentProtein clustersMurine embryosProtein pathwayMolecular pathwaysFunctional roleProteinEmbryonic survivalYolk sacProtein levelsIdentifies biomarkersCardiovascular defectsWestern blottingPathwayNovel avenuesEmbryosComplete understandingProtein biomarkers
2008
ISUOG consensus statement: what constitutes a fetal echocardiogram?
Lee W, Allan L, Carvalho J, Chaoui R, Copel J, Devore G, Hecher K, Munoz H, Nelson T, Paladini D, Yagel S. ISUOG consensus statement: what constitutes a fetal echocardiogram? Ultrasound In Obstetrics And Gynecology 2008, 32: 239-242. PMID: 18663769, DOI: 10.1002/uog.6115.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConsensusFemaleHeart Defects, CongenitalHumansPractice Guidelines as TopicPregnancyUltrasonography, Prenatal
2004
Indications for Fetal Echocardiography
Small M, Copel J. Indications for Fetal Echocardiography. Pediatric Cardiology 2004, 25: 210-222. PMID: 15360114, DOI: 10.1007/s00246-003-0587-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsEchocardiographyFemaleFetal DiseasesFetal HeartHeart Defects, CongenitalHumansPregnancyPregnancy ComplicationsUltrasonography, Prenatal
2002
Midtrimester nuchal thickness and the prediction of postnatal congenital heart defect
Bahado-Singh RO, Rowther M, Bailey J, Copel J, Mendilcioglu I, Choi S, Oz U. Midtrimester nuchal thickness and the prediction of postnatal congenital heart defect. American Journal Of Obstetrics And Gynecology 2002, 187: 1250-1253. PMID: 12439514, DOI: 10.1067/mob.2002.128025.Peer-Reviewed Original ResearchConceptsNuchal thickness measurementPrediction of CHDNuchal thicknessRisk factorsHeart defectsStepwise logistic regression analysisBackground population riskIndividual patient's riskEpidemiologic risk factorsSignificant risk factorsMultiple risk factorsPatient-specific riskSignificant predictorsLogistic regression analysisCongenital heart defectsOnly significant predictorMajor CHDPostnatal evaluationPatient riskMidtrimester fetusesNormal fetusesCongenital heartCHDLogistic regressionSpectrum and progression of conduction abnormalities in infants born to mothers with anti-SSA/Ro-SSB/La antibodies
Askanase A, Friedman D, Copel J, Dische M, Dubin A, Starc T, Katholi M, Buyon J. Spectrum and progression of conduction abnormalities in infants born to mothers with anti-SSA/Ro-SSB/La antibodies. Lupus 2002, 11: 145-151. PMID: 11999879, DOI: 10.1191/0961203302lu173oa.Peer-Reviewed Original ResearchConceptsSSA/Ro-SSB/La antibodiesThird-degree blockCongenital heart blockLa antibodiesSecond-degree blockConduction abnormalitiesDegree blockNeonatal lupusHeart blockAV blockAtrial rateAV nodeAntibody-mediated inflammationMean atrial rateAdvanced AV blockTime of surgeryFirst-degree blockSpectrum of arrhythmiasNormal sinus rhythmAge 10 yearsIncomplete AV blockCardiac manifestationsNodal involvementSinus bradycardiaSubsequent fibrosis
2001
Isolated major congenital heart disease
Allan L, Benacerraf B, Copel J, Carvalho J, Chaoui R, Eik-Nes S, Tegnander E, Gembruch U, Huhta J, Pilu G, Wladimiroff J, Yagel S. Isolated major congenital heart disease. Ultrasound In Obstetrics And Gynecology 2001, 17: 370-379. PMID: 11380959, DOI: 10.1046/j.1469-0705.2001.00439.x.Peer-Reviewed Original ResearchPrenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient
Verheijen P, Lisowski L, Stoutenbeek P, Hitchcock J, Brenner J, Copel J, Kleinman C, Meijboom E, Bennink G. Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. Journal Of Thoracic And Cardiovascular Surgery 2001, 121: 798-803. PMID: 11279423, DOI: 10.1067/mtc.2001.112825.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseHeart diseaseLower base excessHeart obstructionMetabolic acidosisBase excessDuctus-dependent congenital heart diseasePrenatal diagnosisPostnatal diagnosisImproved long-term outcomesGroup of patientsArterial blood gasesLong-term outcomesCause of deathHigher lactate levelsDays of lifePrevention of acidosisSignificant differencesBiventricular repairPreoperative conditionCerebral damageRetrospective studySurgical outcomesPreoperative acidosisBlood gases
1997
Does a prenatal diagnosis of congenital heart disease alter short‐term outcome?
Copel J, Tan A, Kleinman C. Does a prenatal diagnosis of congenital heart disease alter short‐term outcome? Ultrasound In Obstetrics And Gynecology 1997, 10: 237-241. PMID: 9383873, DOI: 10.1046/j.1469-0705.1997.10040237.x.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseLength of hospitalizationPrenatal diagnosis groupInitial hospitalizationDiagnosis groupsGroup IBiventricular repairHeart diseaseOutcome measuresGroup IIPrenatal diagnosisLong-term mortality riskYale-New Haven HospitalDuctal-dependent lesionsFatal congenital anomalyStudy entry criteriaSingle ventricle physiologyPrimary outcome measureShort-term outcomesCost of hospitalizationLife-threatening conditionHospital dischargePrimary admissionVentricle physiologyAntenatal cases
1994
Antenatal diagnosis of coarctation of the aorta: A multicenter experience
Hornberger L, Sahn D, Kleinman C, Copel J, Silverman N. Antenatal diagnosis of coarctation of the aorta: A multicenter experience. Journal Of The American College Of Cardiology 1994, 23: 417-423. PMID: 8294696, DOI: 10.1016/0735-1097(94)90429-4.Peer-Reviewed Original ResearchConceptsTransverse archGestational ageSerial studiesDistal archAortic archDouble outlet right ventricleMembranous ventricular septal defectPrenatal studiesAssociated cardiac lesionsDiagnosis of coarctationDistal arch hypoplasiaDistal aortic archVentricular septal defectUnbalanced atrioventricular canalAbnormal aortic valvePresence of coarctationIsthmus hypoplasiaNoncardiac lesionsPrenatal echocardiogramEchocardiographic findingsArch hypoplasiaMulticenter experienceReversal of flowCardiac lesionsVentricle anatomy
1993
Extracardiac anomalies and congenital heart disease.
Copel J, Pilu G, Kleinman C. Extracardiac anomalies and congenital heart disease. Seminars In Perinatology 1993, 17: 89-105. PMID: 8327906.Peer-Reviewed Original ResearchCongenital AbnormalitiesFemaleFetal DiseasesHeart Defects, CongenitalHumansInfant, NewbornPregnancyUltrasonography, PrenatalUltrasound screening for fetal structural anomalies
Gomez K, Copel J. Ultrasound screening for fetal structural anomalies. Current Opinion In Obstetrics & Gynecology 1993, 5: 204-210. PMID: 8490090, DOI: 10.1097/00001703-199304000-00006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsFetal structural anomaliesStructural anomaliesRoutine ultrasound screeningFour-chamber viewNeural tube defectsRoutine ultrasoundUltrasound screeningHigh riskUltrasound prenatal diagnosisTube defectsUltrasoundPregnancyPrenatal diagnosisDiagnostic ultrasoundControversial topicPatientsObstetricsFetusesAmniocentesisDiagnosis
1992
Outcome of prenatally detected cardiac malformations
Smythe J, Copel J, Kleinman C. Outcome of prenatally detected cardiac malformations. The American Journal Of Cardiology 1992, 69: 1471-1474. PMID: 1590238, DOI: 10.1016/0002-9149(92)90903-c.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, EugenicChild, PreschoolFetal DeathFollow-Up StudiesHeart Defects, CongenitalHumansInfantInfant, NewbornPrenatal DiagnosisPrognosisConceptsCardiac failureExtracardiac malformationsMajor extracardiac malformationsCongenital heart diseaseCardiac lesionsOptimal counselingNonimmune hydropsElective terminationExtracardiac defectsFetal echocardiographyHeart diseaseCardiac malformationsCardiac defectsChromosomal abnormalitiesMalformationsPrenatal detectionPregnancyPatientsOutcomesEchocardiographyHydropsPrognosisFailureLesionsAbnormalitiesFetal Cardiovascular Physiology and Therapy
Kleinman C, Copel J. Fetal Cardiovascular Physiology and Therapy. Fetal Diagnosis And Therapy 1992, 7: 147-157. PMID: 1503650, DOI: 10.1159/000263663.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAnimalsCardiovascular Physiological PhenomenaCardiovascular SystemFemaleFetal DiseasesFetusHeart Defects, CongenitalHumansLungMyocardial ContractionPregnancyRegional Blood FlowConceptsFetal cardiovascular physiologyFetal lamb modelHuman fetal heartSurgical interventionFetal heartLamb modelCardiovascular physiologyFetal cardiovascular malformationsFetal ductus arteriosusFetal cardiovascular systemVentricular filling characteristicsFetal cardiac developmentSystolic reserveVentricular afterloadDuctus arteriosusThird trimesterForamen ovaleNeonatal periodVentricular hypoplasiaFetal lambsShunt flowPrenatal interventionTimely therapyCardiovascular malformationsHuman fetuses
1991
Congenital Heart Disease and Fetal Thoracoabdominal Anomalies: Associations in Utero and the Importance of Cytogenetic Analysis
Fogel M, Copel J, Cullen M, Hobbins J, Kleinman C. Congenital Heart Disease and Fetal Thoracoabdominal Anomalies: Associations in Utero and the Importance of Cytogenetic Analysis. American Journal Of Perinatology 1991, 8: 411-416. PMID: 1839950, DOI: 10.1055/s-2007-999427.Peer-Reviewed Original ResearchConceptsCongenital heart diseasePosterior diaphragmatic herniaDuodenal atresiaHeart diseaseExtracardiac malformationsDiaphragmatic herniaFetal echocardiographyNormal cardiac structureFetal echocardiogramMost fetusesPrenatal evaluationAbnormal karyotypeCardiac structureCytogenetic abnormalitiesFetusesAtresiaOmphaloceleNormal karyotypeAbnormalitiesDiseaseEchocardiographyGastroschisisHerniaPrenatal diagnosisMalformationsHypoplastic left heart syndrome: Prenatal diagnosis, clinical profile, and management
Blake D, Copel J, Kleinman C. Hypoplastic left heart syndrome: Prenatal diagnosis, clinical profile, and management. American Journal Of Obstetrics And Gynecology 1991, 165: 529-534. PMID: 1892177, DOI: 10.1016/0002-9378(91)90279-z.Peer-Reviewed Original ResearchMeSH KeywordsChromosome AberrationsChromosome DisordersDiagnostic ErrorsFemaleHeart Defects, CongenitalHumansPregnancyPregnancy OutcomeUltrasonography, PrenatalConceptsClinical profileExtracardiac malformationsLethal congenital heart defectNeonatal intensive care settingHypoplastic left heart syndromePrenatal diagnosisIntensive care settingCongenital heart defectsPostnatal interventionsDepth counselingHeart syndromeFetal echocardiographyCare settingsNeonatal assessmentUtero diagnosisHeart defectsElective abortionInformed consentPregnancyDiagnosisAssociated geneticMalformationsComplete evaluationInterventionCounseling