2020
Chapter 12 Prenatal testing
Copel J, Kohari K, Merriam A. Chapter 12 Prenatal testing. 2020, 201-221. DOI: 10.1016/b978-0-12-816561-4.00012-0.ChaptersPrenatal testingMaternal-fetal medicineSecond-trimester screeningFirst-trimester screeningTime of deliveryWhole-exome sequencingChorionic villus samplingCurrent pregnancyCell-free fetal DNA screeningCertain patientsMaternal ageReproductive endocrinologyGenetic testingVillus samplingDNA screeningPatientsObstetricsSitu hybridizationScreeningTest optionsMedical GeneticsRiskGeneticsOptionsPregnancy
2008
Stillbirth at Term in Women of Advanced Maternal Age in the United States: When Could the Antenatal Testing Be Initiated?
Bahtiyar M, Funai E, Rosenberg V, Norwitz E, Lipkind H, Buhimschi C, Copel J. Stillbirth at Term in Women of Advanced Maternal Age in the United States: When Could the Antenatal Testing Be Initiated? American Journal Of Perinatology 2008, 25: 301-304. PMID: 18437644, DOI: 10.1055/s-2008-1076605.Peer-Reviewed Original ResearchConceptsIntrauterine fetal demiseAdvanced maternal ageYears of ageRisk of IUFDAntenatal testingMaternal ageSingleton term deliveriesTerm singleton gestationsProportional hazards modelSingleton gestationsFetal demiseIndependent predictorsMedical complicationsTerm deliveryWomen 25Women 40Risk factorsMaternal raceCongenital anomaliesPrevention databaseHazards modelHaenszel testWomen 15U.S. CentersCochran-Mantel
2001
Ratio of nuchal thickness to humerus length for Down syndrome detection
Bahado-Singh R, Oz U, Hsu C, Deren O, Copel J, Mahoney M. Ratio of nuchal thickness to humerus length for Down syndrome detection. American Journal Of Obstetrics And Gynecology 2001, 184: 1284-1288. PMID: 11349203, DOI: 10.1067/mob.2001.113878.Peer-Reviewed Original ResearchConceptsDown syndrome riskHigh-risk groupMaternal ageSyndrome riskNuchal thicknessDown syndromeDown syndrome detectionStudy populationIndividual Down's syndrome riskMean gestational ageOverall study populationAge-related riskHumerus lengthSyndrome detectionDown syndrome casesDown's syndrome likelihood ratiosGestational ageProspective dataHealthy groupGross anomaliesNormal fetusesSyndrome casesBiparietal diameterAmniocentesis casesFetal population
2000
Combined ultrasound biometry, serum markers and age for Down syndrome risk estimation
Bahado‐Singh R, Oz A, Gomez K, Hunter D, Copel J, Baumgarten A, Mahoney M. Combined ultrasound biometry, serum markers and age for Down syndrome risk estimation. Ultrasound In Obstetrics And Gynecology 2000, 15: 199-204. PMID: 10846774, DOI: 10.1046/j.1469-0705.2000.00071.x.Peer-Reviewed Original ResearchConceptsMaternal ageAlpha-fetoproteinTriple screenSerum markersUltrasound biometryDown syndromeNuchal thickness measurementMedian maternal ageSerum alpha-fetoproteinNormal singleton pregnanciesHumerus lengthGestational age rangeDown's syndrome screening efficiencySingleton pregnanciesReferral populationFalse positive rateSecond trimesterIndividual Down syndrome oddsFetal biometryUnconjugated estriolStudy groupNuchal thicknessDown syndrome risk estimationHCGAge range
1999
A high-sensitivity alternative to “routine” genetic amniocentesis: Multiple urinary analytes, nuchal thickness, and age
Bahado-Singh R, Oz U, Kovanci E, Cermik D, Copel J, Mahoney M, Cole L. A high-sensitivity alternative to “routine” genetic amniocentesis: Multiple urinary analytes, nuchal thickness, and age. American Journal Of Obstetrics And Gynecology 1999, 180: 169-173. PMID: 9914599, DOI: 10.1016/s0002-9378(99)70170-5.Peer-Reviewed Original ResearchConceptsAdvanced maternal ageNuchal thicknessMaternal ageGenetic amniocentesisDown syndrome detection rateUrinary beta-core fragmentUrinary analytesMaternal age-related riskRisk thresholdSyndrome detection rateTotal study populationHigh-risk groupAge-related riskBeta-core fragmentRate of amniocentesisHuman chorionic gonadotropinDown syndrome riskDown's syndrome likelihood ratiosDown's syndrome screening efficiencyLikelihood ratioCommon indicationFalse positive rateNormal medianPregnant womenSyndrome risk
1998
New Down syndrome screening algorithm: Ultrasonographic biometry and multiple serum markers combined with maternal age
Bahado-Singh R, Oz A, Kovanci E, Deren O, Copel J, Baumgarten A, Mahoney J. New Down syndrome screening algorithm: Ultrasonographic biometry and multiple serum markers combined with maternal age. American Journal Of Obstetrics And Gynecology 1998, 179: 1627-1631. PMID: 9855608, DOI: 10.1016/s0002-9378(98)70036-5.Peer-Reviewed Original ResearchConceptsHumerus length measurementsSerum markersDown syndromeMaternal ageTriple screenHumerus lengthMultiple stepwise logistic regression analysisTriple-marker serum screeningSerum analytesStepwise logistic regression analysisScreening algorithmHigh-risk populationFetal Down syndromeMultiple serum markersDown syndrome screeningHuman chorionic gonadotropinLogistic regression analysisNew screening algorithmDown's syndrome screening efficiencyPrenatal Down syndrome screeningDown syndrome detectionFalse positive rateSerum screenSingleton fetusesUnconjugated estriolAn alternative for women initially declining genetic amniocentesis: Individual Down syndrome odds on the basis of maternal age and multiple ultrasonographic markers
Bahado-Singh R, Deren O, Oz U, Tan A, Hunter D, Copel J, Mahoney M. An alternative for women initially declining genetic amniocentesis: Individual Down syndrome odds on the basis of maternal age and multiple ultrasonographic markers. American Journal Of Obstetrics And Gynecology 1998, 179: 514-519. PMID: 9731862, DOI: 10.1016/s0002-9378(98)70388-6.Peer-Reviewed Original ResearchConceptsHyperechoic fetal bowelMaternal ageDown syndromeFetal bowelUltrasonographic parametersScreen-positive rateSignificant independent predictorsAge-related riskDown syndrome riskIndividual oddsLikelihood ratioPositive predictive valueHypoplastic fifth digitDigit hypoplasiaWeeks' gestationIndependent predictorsNormal medianIndividual Down syndrome oddsSingleton fetusesSyndrome riskUltrasonographic markersSerum screeningGenetic amniocentesisHigh riskNuchal thickeningNew triple screen test for Down syndrome: Combined urine analytes and serum AFP
Bahado‐Singh R, Oz U, Kovanci E, Cermik D, Flores D, Copel J, Mahoney M, Cole L. New triple screen test for Down syndrome: Combined urine analytes and serum AFP. The Journal Of Maternal-Fetal Medicine 1998, 7: 111-114. PMID: 9642606, DOI: 10.1002/(sici)1520-6661(199805/06)7:3<111::aid-mfm2>3.0.co;2-n.Peer-Reviewed Original ResearchConceptsSerum AFPIndividual Down syndrome oddsMaternal ageTriple screenUrine beta-core fragmentDown syndromeTriple testTriple screen testBeta-core fragmentDown syndrome casesNeural tube defectsDown's syndrome likelihood ratiosEstriol levelsLarge trialsSecond trimesterUrine testsPositive rateEstriol ratioSyndrome casesTube defectsScreen testFalse positive rateAFP dataUrine analytesAFPNew triple screen test for down syndrome: Combined urine analytes and serum AFP
Bahado-Singh R, Oz U, Kovanci E, Cermik D, Flores D, Copel J, Mahoney M, Cole L. New triple screen test for down syndrome: Combined urine analytes and serum AFP. The Journal Of Maternal-Fetal Medicine 1998, 7: 111-114. DOI: 10.3109/14767059809020424.Peer-Reviewed Original ResearchSerum AFPIndividual Down syndrome oddsMaternal ageTriple screenDown syndromeTriple testTriple screen testΒ-core fragmentDown syndrome casesNeural tube defectsDown's syndrome likelihood ratiosEstriol levelsLarge trialsSecond trimesterUrine testsPositive rateEstriol ratioSyndrome casesTube defectsScreen testFalse positive rateAFP dataUrine analytesAFPSyndrome
1996
Ultrasonographically adjusted midtrimester risk of trisomy 21 and significant chromosomal defects in advanced maternal age
Bahado-Singh R, Deren Ö, Tan A, D'Ancona R, Hunter D, Copel J, Mahoney M. Ultrasonographically adjusted midtrimester risk of trisomy 21 and significant chromosomal defects in advanced maternal age. American Journal Of Obstetrics And Gynecology 1996, 175: 1563-1568. PMID: 8987942, DOI: 10.1016/s0002-9378(96)70107-2.Peer-Reviewed Original ResearchConceptsAdvanced maternal ageMaternal ageDown syndromeNormal ultrasonographyUltrasonography resultsAbdominal circumferenceNuchal thicknessAnatomic defectsChromosomal defectsSmaller abdominal circumferenceChoroid plexus cystsFetal Down syndromeReceiver operator characteristic curveStepwise logistic regressionAbnormal ultrasonography resultsBasis of ageDown syndrome detectionUltrasonographic resultsNormal groupChromosome defectsBiparietal diameterRisk tablesTrisomy 21SyndromeShort humerus
1995
Normal nuchal thickness inthe midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results
Bahado-Singh R, Goldstein I, Uerpairojkit B, Copel J, Mahoney M, Baumgarten A. Normal nuchal thickness inthe midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results. American Journal Of Obstetrics And Gynecology 1995, 173: 1106-1110. PMID: 7485301, DOI: 10.1016/0002-9378(95)91334-3.Peer-Reviewed Original ResearchConceptsAbnormal triple-screen resultsTriple-screen resultsNuchal thicknessDown syndromeHuman chorionic gonadotropin levelsNuchal thickness measurementChorionic gonadotropin levelsReceiver operator characteristic curveNumber of amniocentesesReceiver operator characteristic plotsRisk thresholdMidtrimester pregnancyGonadotropin levelsWeeks' gestationMaternal ageConsecutive fetusesUnconjugated estriolSerum screeningEuploid fetusesAlpha-fetoproteinSyndromeTrisomy 21Screen resultsRisk estimatesFetuses