Search results for " Neonatal Screening"

showing 3 items of 3 documents

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects

2017

Objective To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. Study design A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Posi…

MalePediatricsNeonatal intensive care unit030204 cardiovascular system & hematologyPediatricsSeverity of Illness IndexHypoplastic left heart syndromeCohort StudiesTertiary Care CentersCongenital0302 clinical medicineNeonatalOximetryProspective StudiesProspective cohort studyHeart Defectsmedicine.diagnostic_testIncidenceIncidence (epidemiology)Perinatology and Child Healthcongenital heart defectsHospitalspulse oximetrycongenital heart defects; neonatal screening; perfusion index; pulse oximetry; Blood Gas Analysis; Cohort Studies; Heart Defects Congenital; Hospitals Maternity; Humans; Incidence; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Oximetry; Oxygen Consumption; Prospective Studies; Risk Assessment; Sensitivity and Specificity; Severity of Illness Index; Tertiary Care Centers; Pediatrics Perinatology and Child HealthIntensive Care UnitsItalymedicine.symptomCohort studyHeart Defects Congenitalmedicine.medical_specialtyMaternityHospitals MaternityRisk AssessmentSensitivity and SpecificityAsymptomatic03 medical and health sciencesNeonatal ScreeningOxygen ConsumptionIntensive Care Units Neonatal030225 pediatricsSeverity of illnessmedicineHumansperfusion indexbusiness.industryInfant NewbornInfantNewbornmedicine.diseasePulse oximetryPediatrics Perinatology and Child HealthBlood Gas AnalysisbusinessThe Journal of Pediatrics
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Universal newborn hearing screening in the Italian Region of Sicily in 2018

2021

We have clarified the role of Universal Neonatal Hearing Screening (UNHS) for both early diagnosis and rapid treatment in order to improve the prognosis of the deaf child and reduce patient management costs. Although in Sicily UNHS has been progressively implemented, there is scarce data in the literature on this matter. Therefore, the main objective was to collect in the year 2018 the following data: number of newborns screened for hearing loss, number of infants "referred" to transiently evoked otoacoustic emissions (TEOAE), number of infants with pathologic auditory brainstem response (ABR) and number of infants affected by permanent hearing loss.UNHS monitoring was conducted through the…

Scarce dataPediatricsmedicine.medical_specialtyHearing lossOtoacoustic Emissions SpontaneousHearing screeningcongenital deafnessscreening universale uditivo neonataleNeonatal ScreeningCongenital deafness Neonatal hearing loss Universal newborn hearing screening Child Evoked Potentials Auditory Brain Stem Hearing Tests Humans Infant Newborn Otoacoustic Emissions Spontaneous Sicily Hearing Loss Neonatal ScreeningEpidemiologyEvoked Potentials Auditory Brain StemmedicineHumansneonatal hearing lossCongenital deafness; Neonatal hearing loss; Universal newborn hearing screening; Child; Evoked Potentials Auditory Brain Stem; Hearing Tests; Humans; Infant; Infant Newborn; Otoacoustic Emissions Spontaneous; Sicily; Hearing Loss; Neonatal ScreeningChildHearing LossEvoked PotentialsAuditorySicilyNeonatal hearing lossbusiness.industrySpontaneousHearing TestsBilateral hearing lossInfant NewbornInfantAudiologyNewbornuniversal newborn hearing screeningsordità congenitaPatient managementcongenital deafness; neonatal hearing loss; universal newborn hearing screening.General EnergyAuditory brainstem responseipoacusia neonataleOtorhinolaryngologymedicine.symptombusinessOtoacoustic EmissionsBrain StemActa Otorhinolaryngologica Italica
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