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1.
Medicine (Baltimore) ; 100(24): e26291, 2021 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-34128864

RESUMO

ABSTRACT: Ultrasonography is the ideal tool for assessing hip morphology in infants younger than 6-month-old. This study assessed the interobserver agreement and clinical disparities of the 2 most widely used ultrasound (US) methods, the Graf method, and femoral head coverage (FHC) measurement.A prospective observational study (STROBE compliant) of 2024 newborns was conducted between January 2017 and December 2018. Hip US was conducted on all newborns with abnormal Barlow and Ortolani maneuvers as well as on 50 randomly selected normal newborns. The physical examination and US were performed by a senior pediatric orthopedic surgeon with musculoskeletal sonography certification. Three observers with different levels of experience interpreted the images by using the Graf method and FHC. We analyzed the intraclass correlation coefficient, Cohen kappa, and the disparity between the clinical findings of the 2 methods.A total of 198 newborns (9.8%) presented with clinical instability, including 193 subluxatable hips in 168 patients (84.8%) and 45 dislocatable/dislocated hips in 30 patients (15.2%). The mean age at US examination was 11.69 days (range: 0-18 days). The intraclass correlation coefficient was .71 (95% CI: 0.55-0.83) for FHC, 0.63 (95% CI: 0.38-0.78) for the alpha angle, and 0.47 (95% CI: 0.16-0.69) for beta angle. The Cohen kappa coefficients of Graf type were 0.19 (95% CI: 0.03-0.35), 0.39 (95% CI: 0.20-0.58), and 0.17 (95% CI: 0.02-0.32) between observers 1 and 2, observers 1 and 3, and observers 2 and 3, respectively. Based on the Graf method, 14% of the stable hips had abnormal USs; by contrast, 19.2% of the subluxatable hips and 17.8% of the dislocatable/dislocated hips had normal Graf morphologies. In USs interpreted using FHC, 16% of stable hips demonstrated abnormal coverage, whereas 13.5% of subluxatable hips and 4.4% of dislocatable/dislocated hips had normal FHC.Incidence of clinically detectable hip instability was 9.8% among newborns in our series. Both alpha angle and FHC ratio revealed substantial interobserver agreement while beta angle achieved moderate agreement. FHC ratio possesses higher sensitivity and similar specificity compared with the Graf method when screening unstable hips.Level II, development of diagnostic criteria on basis of consecutive patients.


Assuntos
Antropometria/métodos , Displasia do Desenvolvimento do Quadril/diagnóstico , Triagem Neonatal/métodos , Exame Físico/estatística & dados numéricos , Ultrassonografia/estatística & dados numéricos , Feminino , Cabeça do Fêmur/diagnóstico por imagem , Quadril/diagnóstico por imagem , Humanos , Recém-Nascido , Instabilidade Articular/diagnóstico , Masculino , Variações Dependentes do Observador , Exame Físico/métodos , Estudos Prospectivos , Sensibilidade e Especificidade , Ultrassonografia/métodos
2.
Isr Med Assoc J ; 23(5): 318-322, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34024050

RESUMO

BACKGROUND: The incidence of congenital cytomegalovirus (CMV) infection in Israel is 0.7%. Only 10-15% are symptomatic. Valganciclovir has been shown to improve hearing and neurodevelopmental outcomes in neonates with symptomatic congenital CMV infection. Targeted examination of infants who fail routine neonatal hearing screening or have clinical or laboratory findings suggestive of symptomatic congenital CMV infection may be a cost-effective approach. OBJECTIVES: To assess the possibility of targeted examination for the detection of newborns with symptomatic congenital CMV infection. METHODS: A prospective observational study was conducted in 2014-2015 at two medical centers in northern Israel. Included were all newborns who were tested in the first 3 days of life by polymerase chain reaction (PCR) for urine CMV DNA (n=692), either for failure the hearing screening (n=539, 78%), clinical or laboratory findings suggestive of symptomatic congenital CMV infection, or primary CMV infection during pregnancy (n=153, 22%). RESULTS: During the study period 15,433 newborns were born. The predicted rate of infection was 10-15% (symptomatic) of 0.7% of newborns, namely 0.07-0.105% or 10-15 infants. In fact, 15 infants (0.11%, 95% confidence interval 0.066-0.175) were diagnosed with symptomatic congenital CMV infection, 2/539 (0.37%) in the failed hearing group and 13/153 (8%) in the clinical/laboratory findings group. The incidence of symptomatic congenital CMV infection was within the predicted range. CONCLUSIONS: Targeted examination of only 4.5% (n=692) of newborns detected the predicted number of infants with symptomatic congenital CMV infection in whom valganciclovir therapy is recommended.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Triagem Neonatal/métodos , Reação em Cadeia da Polimerase , Antivirais/administração & dosagem , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/tratamento farmacológico , DNA Viral/urina , Feminino , Perda Auditiva Neurossensorial/virologia , Humanos , Incidência , Recém-Nascido , Israel , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estudos Prospectivos , Valganciclovir/administração & dosagem
3.
Obesity (Silver Spring) ; 29(6): 1036-1045, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34029449

RESUMO

OBJECTIVE: This study aimed to examine associations of changes in leptin and adiponectin concentrations from birth to age 12 years with adolescent adiposity and cardiometabolic risk in the Health Outcomes and Measures of Environment (HOME) Study, a prospective birth cohort (Cincinnati, Ohio; N = 166). METHODS: Adiposity and cardiometabolic risk factors were assessed at age 12 years using anthropometry, dual-energy x-ray absorptiometry, and fasting serum biomarkers. Cardiometabolic risk scores were calculated by summing age- and sex- standardized z scores for individual cardiometabolic risk factors. RESULTS: Most serum adipocytokine concentrations at birth were not associated with adiposity or cardiometabolic risk outcomes. Leptin and adiponectin concentrations at age 12 years were associated with all outcomes in the expected direction. Adolescents with increasing (ß: 4.2; 95% CI: 3.2 to 5.2) and stable (ß: 2.2; 95% CI: 1.2 to 3.2) leptin concentrations from birth to age 12 years had higher cardiometabolic risk scores than adolescents with decreasing concentrations (reference group). Adolescents with increasing (e.g., fat mass index = ß: -1.04; 95% CI: -1.27 to -0.80) and stable (ß: 0.66; 95% CI: -0.92 to -0.40) adiponectin/leptin ratios had more favorable adiposity outcomes than adolescents with decreasing ratios. CONCLUSIONS: In this cohort, changes in leptin concentrations and adiponectin/leptin ratios over childhood were associated with adiposity and cardiometabolic risk scores, indicating that adipocytokine concentrations are potential biomarkers for predicting excess adiposity and cardiometabolic risk in adolescence.


Assuntos
Adipocinas/sangue , Adiposidade , Fatores de Risco Cardiometabólico , Adipocinas/análise , Adiposidade/fisiologia , Adolescente , Saúde do Adolescente/estatística & dados numéricos , Fatores Etários , Biomarcadores/sangue , Índice de Massa Corporal , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Ohio/epidemiologia , Obesidade Pediátrica/sangue , Obesidade Pediátrica/epidemiologia , Obesidade Pediátrica/etiologia , Prognóstico , Fatores de Risco
4.
Isr Med Assoc J ; 23(4): 229-232, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33899355

RESUMO

BACKGROUND: Many countries have adopted a mandatory routine pulse oximetry screening of newborn infants to identify babies with otherwise asymptomatic critical congenital heart disease (CCHD). OBJECTIVES: To describe the current status of pulse oximetry CCHD screening in Israel, with a special emphasis on the experience of the Shaare Zedek Medical Center. METHODS: We review the difficulties of the Israeli Medical system with adopting the SaO2 screening, and the preliminary results of the screening at the Shaare Zedek Medical Center, both in terms of protocol compliance and CCHD detection. RESULTS: Large scale protocol cannot be implemented in one day, and regular quality assessment programs must take place in order to improve protocol compliance and identify the reasons for protocol failures. CONCLUSIONS: Quality control reviews should be conducted soon after implementation of the screening to allow for prompt diagnosis and quick resolution.


Assuntos
Diagnóstico Precoce , Cardiopatias Congênitas , Triagem Neonatal , Oximetria/métodos , Intervenção Médica Precoce/normas , Necessidades e Demandas de Serviços de Saúde , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Israel , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Triagem Neonatal/normas , Triagem Neonatal/tendências , Qualidade da Assistência à Saúde/organização & administração
5.
J Perinatol ; 41(5): 970-980, 2021 05.
Artigo em Inglês | MEDLINE | ID: covidwho-1118798

RESUMO

OBJECTIVE: The impact of evolving guidelines and clinical practices on SARS-CoV-2-positive dyads across New York City Health and Hospitals during the early peak of COVID-19. DESIGN: A retrospective cohort study of positive-positive (P/P), positive-negative (P/N), and positive-untested (P/U) dyads delivered from March 1 to May 9, 2020. Wilcoxon rank sum, Chi-squared, and Fisher exact tests were used to analyze demographics, clinical variables, and system-wide management practices. RESULT: A total of 2598 mothers delivered. 23.8% (286/1198) of mothers tested for SARS-CoV-2 were positive. 89.7% (260/290) newborns of SARS-CoV-2-positive mothers were tested and 11 were positive. Positive-positive newborns were more likely to be breastfed (81%), be admitted to NICU, and have longer length of stay (7.5 days) than P/N and P/U newborns. CONCLUSION: Our study shows that varied testing, feeding, and isolation practices resulted in favorable short-term outcomes for SARS-CoV-2-positive mothers and their newborns. High-risk populations can be safely and effectively treated in resource-limited environments.


Assuntos
Aleitamento Materno/estatística & dados numéricos , COVID-19/epidemiologia , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Transmissão Vertical de Doenças Infecciosas/estatística & dados numéricos , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , COVID-19/diagnóstico , Teste para COVID-19 , Feminino , Humanos , Recém-Nascido , Terapia Intensiva Neonatal/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Masculino , Triagem Neonatal/métodos , Cidade de Nova Iorque/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2/isolamento & purificação
6.
Indian Pediatr ; 58(6): 525-531, 2021 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-33742609

RESUMO

BACKGROUND: Limited evidence exists on perinatal transmission and outcomes of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in neonates. OBJECTIVE: To describe clinical outcomes and risk factors for transmission in neonates born to mothers with perinatal SARS-CoV-2 infection. DESIGN: Prospective cohort of suspected and confirmed SARS-CoV-2 infected neonates entered in National Neonatology Forum (NNF) of India registry. SUBJECTS: Neonates born to women with SARS-CoV-2 infection within two weeks before or two days after birth and neonates with SARS-CoV-2 infection. OUTCOMES: Incidence and risk factors of perinatal transmission. RESULTS: Among 1713 neonates, SARS-CoV-2 infection status was available for 1330 intramural and 104 extramural neonates. SARS-CoV-2 positivity was reported in 144 intramural and 39 extramural neonates. Perinatal transmission occurred in 106 (8%) and horizontal transmission in 21 (1.5%) intramural neo-nates. Neonates roomed-in with mother had higher transmission risk (RR1.16, 95% CI 1.1 to 2.4; P=0.01). No association was noted with the mode of delivery or type of feeding. The majority of neonates positive for SARS-CoV2 were asymptomatic. Intra-mural SARS-CoV-2 positive neonates were more likely to be symptomatic (RR 5, 95%CI 3.3 to 7.7; P<0.0001) and need resuscitation (RR 2, 95%CI 1.0 to 3.9; P=0.05) compared to SARS-CoV-2 negative neonates. Amongst symptomatic neonates, most morbidities were related to prematurity and perinatal events. CONCLUSIONS: Data from a large cohort suggests perinatal transmission of SARS-CoV-2 infection and increased morbidity in infected infants.


Assuntos
COVID-19/diagnóstico , Transmissão Vertical de Doenças Infecciosas/estatística & dados numéricos , Triagem Neonatal/métodos , Complicações Infecciosas na Gravidez/virologia , SARS-CoV-2/isolamento & purificação , Adulto , COVID-19/epidemiologia , COVID-19/transmissão , Teste para COVID-19 , Feminino , Humanos , Incidência , Índia/epidemiologia , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Mães , Neonatologia , Pandemias/prevenção & controle , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/prevenção & controle , Estudos Prospectivos , RNA Viral , Sistema de Registros , Fatores de Risco
7.
J Perinatol ; 41(5): 970-980, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33674713

RESUMO

OBJECTIVE: The impact of evolving guidelines and clinical practices on SARS-CoV-2-positive dyads across New York City Health and Hospitals during the early peak of COVID-19. DESIGN: A retrospective cohort study of positive-positive (P/P), positive-negative (P/N), and positive-untested (P/U) dyads delivered from March 1 to May 9, 2020. Wilcoxon rank sum, Chi-squared, and Fisher exact tests were used to analyze demographics, clinical variables, and system-wide management practices. RESULT: A total of 2598 mothers delivered. 23.8% (286/1198) of mothers tested for SARS-CoV-2 were positive. 89.7% (260/290) newborns of SARS-CoV-2-positive mothers were tested and 11 were positive. Positive-positive newborns were more likely to be breastfed (81%), be admitted to NICU, and have longer length of stay (7.5 days) than P/N and P/U newborns. CONCLUSION: Our study shows that varied testing, feeding, and isolation practices resulted in favorable short-term outcomes for SARS-CoV-2-positive mothers and their newborns. High-risk populations can be safely and effectively treated in resource-limited environments.


Assuntos
Aleitamento Materno/estatística & dados numéricos , COVID-19/epidemiologia , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Transmissão Vertical de Doenças Infecciosas/estatística & dados numéricos , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , COVID-19/diagnóstico , Teste para COVID-19 , Feminino , Humanos , Recém-Nascido , Terapia Intensiva Neonatal/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Masculino , Triagem Neonatal/métodos , Cidade de Nova Iorque/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2/isolamento & purificação
8.
BMC Infect Dis ; 21(1): 118, 2021 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-33499820

RESUMO

BACKGROUND: Early infant diagnosis of HIV infection is challenging in sub-Saharan Africa, particularly in rural areas, leading to delays in diagnosis and treatment. Use of a point-of-care test would overcome many challenges. This study evaluated the validity of a novel point-of-care p24 antigen detection test (LYNX) in rural and urban settings in southern Zambia. METHODS: Two studies were conducted: a cross-sectional study from 2014 to 2015 at Macha Hospital (LYNX Hospital study) and a longitudinal study from 2016 to 2018 at 12 health facilities in Southern Province, Zambia (NSEBA study). In both studies, children attending the facilities for early infant diagnosis were enrolled and a blood sample was collected for routine testing at the central lab and immediate on-site testing with the LYNX test. The performance of the LYNX test was measured in comparison to nucleic acid-based testing at the central lab. RESULTS: In the LYNX Hospital study, 210 tests were performed at a median age of 23.5 weeks (IQR: 8.9, 29.0). The sensitivity and specificity of the test were 70.0 and 100.0%, respectively. In the NSEBA study, 2608 tests were performed, including 1305 at birth and 1222 on children ≥4 weeks of age. For samples tested at birth, sensitivity was 13.6% (95% CI: 2.9, 34.9) and specificity was 99.6% (95% CI: 99.1, 99.9). While specificity was high for all ages, sensitivity increased with age and was higher for participants tested at ≥4 weeks of age (80.6%; 95% CI: 67.4, 93.7). Children with positive nucleic acid tests were more likely to be negative by the LYNX test if their mother received antiretroviral therapy during pregnancy (60.7% vs. 24.2%; p = 004). CONCLUSIONS: Considering the high specificity and moderate sensitivity that increased with age, the LYNX test could be of value for early infant diagnosis for infants ≥4 weeks of age, particularly in rural areas where centralized testing leads to long delays. Point-of-care tests with moderate sensitivity and high specificity that are affordable, easy-to-use, and easily implemented and maintained should be developed to expand access to testing and deliver same-day results to infants in areas where it is not feasible to implement nucleic acid-based point-of-care assays.


Assuntos
Proteína do Núcleo p24 do HIV/análise , Infecções por HIV/diagnóstico , Testes Imediatos , Fármacos Anti-HIV/uso terapêutico , Estudos Transversais , Testes Diagnósticos de Rotina , Diagnóstico Precoce , Estudos de Viabilidade , Feminino , Proteína do Núcleo p24 do HIV/sangue , Infecções por HIV/congênito , Infecções por HIV/epidemiologia , Infecções por HIV/transmissão , Humanos , Testes Imunológicos , Ciência da Implementação , Lactente , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Estudos Longitudinais , Masculino , Triagem Neonatal/métodos , Sistemas Automatizados de Assistência Junto ao Leito , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/epidemiologia , População Rural , Sensibilidade e Especificidade , Zâmbia/epidemiologia
9.
Pediatrics ; 147(2)2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33419867

RESUMO

BACKGROUND AND OBJECTIVES: Congenital cytomegalovirus (cCMV) is the leading nongenetic cause of sensorineural hearing loss and developmental disabilities. Because there are limited data from studies of vestibular involvement in select groups of children with cCMV, the true frequency of vestibular disorders in cCMV is likely underestimated. Our objective for this study is to determine the prevalence of vestibular, gaze, and balance disorders in a cohort of children with asymptomatic cCMV. METHODS: Comprehensive vestibular, gaze, and balance assessments were performed in 40 children with asymptomatic cCMV. The function of semicircular canals of the inner ear and vestibulo-visual tract were assessed by measuring vestibulo-ocular reflex in a computer-driven motorized rotary chair; inner ear saccular function was assessed by using cervical vestibular evoked myogenic potential; gaze stability during head movement was assessed by using clinical dynamic visual acuity, and balance was assessed by using the sensory organization test and the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition. Test results for each variable were compared with those of a control group without cCMV and/or compared to age-matched normative published data. RESULTS: Vestibular disorders were evident in 45% of the cohort on the basis of rotary chair and cervical vestibular evoked myogenic potential testing, suggesting abnormalities in semicircular canals, the utricle and saccule of the inner ear, and vestibulo-visual tracts. Additionally, 46% of the cohort had difficulties maintaining gaze during head movement, and one-third to one-half of the cohort had difficulties maintaining balance. CONCLUSIONS: Vestibular, gaze, and balance disorders are highly prevalent in children with asymptomatic cCMV. Systematic screening for vestibular disorders will be used to determine the full clinical impact for the development of effective interventions.


Assuntos
Doenças Assintomáticas , Infecções por Citomegalovirus/diagnóstico , Fixação Ocular/fisiologia , Perda Auditiva Neurossensorial/diagnóstico , Equilíbrio Postural/fisiologia , Doenças Vestibulares/diagnóstico , Criança , Estudos de Coortes , Infecções por Citomegalovirus/complicações , Feminino , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/virologia , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Doenças Vestibulares/etiologia , Doenças Vestibulares/virologia
10.
Arch Dis Child Fetal Neonatal Ed ; 106(2): 189-193, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32989047

RESUMO

OBJECTIVE: To evaluate current screening criteria for retinopathy of prematurity (ROP) by investigating the incidence of ROP requiring treatment in infants with gestational age (GA) ≥30 weeks or postmenstrual age (PMA) <32 weeks in Germany. METHODS: Three patient databases were analysed, that is, the German Quality Assurance Procedure in Neonatology (years 2011-2017; n=52 461 infants screened for ROP, 1505 infants treated for ROP), the German Retina.net ROP Registry (years 2011-2018; n=281 treated infants) and the ROP screening programme of two German university hospitals (years 2012-2016; n=837 screened infants). RESULTS: In the analysed cohorts, infants with GA ≥30 weeks represented 33.1%-38.5% of the screening populations but only 1.40%-1.42% of the cases requiring ROP treatment. In a cohort of 281 infants treated for ROP, all 4 infants with GA ≥30 weeks had additional risk factors for ROP including prolonged oxygen supplementation and/or significant comorbidities. Five infants (1.8%) were treated at 32 weeks PMA and none at PMA <32 weeks. CONCLUSIONS: In the investigated cohorts, preterm infants with GA ≥30 weeks carried a very low or no risk for developing treatment-requiring ROP unless additional risk factors were present, and no treatment was performed earlier than 32 weeks PMA. These findings are of relevance for the ongoing re-evaluation of ROP screening criteria.


Assuntos
Recém-Nascido Prematuro , Triagem Neonatal/métodos , Retinopatia da Prematuridade/epidemiologia , Peso ao Nascer , Comorbidade , Feminino , Alemanha/epidemiologia , Idade Gestacional , Hospitais Universitários , Humanos , Incidência , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco
11.
Arch Dis Child ; 106(3): 253-257, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32859613

RESUMO

OBJECTIVE: Wales has an immunoreactive trypsin (IRT)-DNA cystic fibrosis (CF) newborn screening (NBS) programme. Most CF NBS false negative cases are due to an IRT concentration below the screening threshold. The accuracy of IRT results is dependent on the quality of the dried bloodspot (DBS) sample. The aim of this study was to determine the cause of false negative cases in CF NBS and their relationship to DBS quality. DESIGN: Longitudinal birth cohort. SETTING: Wales 1996-2016. PATIENTS: Children with CF. INTERVENTIONS: Identification of all CF patients with triangulation of multiple data sources to detect false negative cases. MAIN OUTCOME MEASURES: False negative cases. RESULTS: Over 20 years, 673 952 infants were screened and 239 were diagnosed with CF (incidence 1:2819). The sensitivity of the programme was 0.958, and positive predictive value was 0.476. Eighteen potential false negatives were identified, of whom eight were excluded: four screened outside Wales, two had complex comorbidities, no identified cystic fibrosis transmembrane conductance regulator (CFTR) variants on extended analysis and thus not considered to have CF and two were diagnosed after their 16th birthday. Of the 10 false negatives, 9 had a low DBS IRT and at least one common CFTR variant and thus should have received a sweat test under the programme. DBS cards were available for inspection for five of the nine false negative cases-all were classified as small/insufficient or poor quality. CONCLUSIONS: The majority of false negatives had a low bloodspot IRT, and this was associated with poor quality DBS. The optimal means to improve the sensitivity of our CF NBS programme would be to improve DBS sample quality.


Assuntos
Fibrose Cística/diagnóstico , Teste em Amostras de Sangue Seco/estatística & dados numéricos , Triagem Neonatal/métodos , Tripsinogênio/sangue , Cloretos/análise , Fibrose Cística/sangue , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Teste em Amostras de Sangue Seco/métodos , Reações Falso-Negativas , Humanos , Incidência , Lactente , Recém-Nascido , Íleo Meconial/epidemiologia , Íleo Meconial/etiologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Viés de Seleção , Suor/química , País de Gales/epidemiologia
12.
J Pediatr ; 228: 53-57, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32890579

RESUMO

OBJECTIVE: To quantify the risk that transcutaneous bilirubin (TcB) screening would fail to recommend phototherapy for a neonate who would have qualified for it if total serum bilirubin (TSB) screening were used. STUDY DESIGN: We conducted a quality improvement project where simultaneous TcB and TSB were obtained on neonates ≥35 weeks of gestation during birth hospitalizations in our hospital system. Using our Utah bilirubin management algorithm, we quantified the risk that TcB screening would fail to identify the need for a confirmatory TSB when TSB screening alone would have revealed that phototherapy was indicated. RESULTS: In 3 hospitals, we obtained 727 paired TcB/TSB measurements. Two instances utilized a blood gas radiometer for TSB, and 725 utilized the clinical laboratory-based TSB method. One of the 727 instances had a TcB indicating NO PHOTOTHERAPY, when the simultaneous TSB indicated PHOTOTHERAPY NEEDED. The TSB from that instance was 1 of the 2 from the blood gas radiometer. We estimate the risk of such an error occurring is 1.4 per 1000 TcB measurements (95% CI 0.03-7.6 per 1000). When only the laboratory TSB is used, we estimate the risk of such an error occurring to be 0 per 1000 TcB measurements (95% CI 0.0-5.1 per 1000). CONCLUSIONS: Using TcB for screening at the birth hospital can identify those qualifying for phototherapy, using the Utah guidelines, with 1 of 727 neonates with a blood gas bilirubin and none of 725 with a laboratory-based analysis misidentified as not needing phototherapy when by TSB they did.


Assuntos
Bilirrubina/sangue , Atenção à Saúde/normas , Recém-Nascido Prematuro/sangue , Icterícia Neonatal/sangue , Triagem Neonatal/métodos , Biomarcadores/sangue , Feminino , Humanos , Recém-Nascido , Icterícia Neonatal/diagnóstico , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos
13.
Trop Med Int Health ; 26(1): 23-32, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33151598

RESUMO

OBJECTIVE: Sickle cell disease is an important public health issue that is increasingly recognised as a substantial contributor to morbidity and early childhood mortality in sub-Saharan Africa. We aimed to provide information from large-scale, long-term sickle cell screening efforts in Africa. METHODS: We used nationally representative data from the centralised public health laboratory database in Uganda to examine epidemiological trends in sickle cell screening over a five-year period, comparing age and geographic adjustments to prevalence among different testing cohorts of children aged 0-24 months, and calculating screening coverage within high-burden districts. RESULTS: A total of 324 356 children aged 0-24 months were screened for sickle cell trait and disease from February 2014 to March 2019. A high national burden of sickle cell disease (0.9%) was confirmed among a cohort of samples co-tested with HIV. In the cohort of samples referred specifically for sickle cell testing, the overall prevalence of sickle cell disease was 9.7% and particularly elevated in high-burden districts where focused screening occurred. The majority of children were screened before age 4 months, but the sickle-specific cohort had a larger proportion of affected children tested between age 5-9 months, coincident with onset of disease signs and symptoms. Successful screening coverage of sickle cell disease births was achieved in several high-burden districts. CONCLUSIONS: Examination and analysis of national sickle cell screening trends in Uganda documents the successes of focused screening strategies as an important step towards universal screening. With this evidence and increased healthcare provider knowledge, Uganda can optimise sickle cell diagnosis and management across the country.


Assuntos
Anemia Falciforme/epidemiologia , Triagem Neonatal/métodos , Traço Falciforme/epidemiologia , Anemia Falciforme/diagnóstico , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Traço Falciforme/diagnóstico , Uganda/epidemiologia
14.
Pediatr Pulmonol ; 56(1): 113-119, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33095477

RESUMO

BACKGROUND: The benefits of early cystic fibrosis (CF) detection using newborn screening (NBS) has led to widespread use in NBS programs. Since 2002, a two-stage immunoreactive trypsinogen (IRT/IRT) screening strategy has been used as a CFNBS method in all public maternity units in the City of Buenos Aires, Argentina. However, novel screening strategies may be more efficient. The aim of this study is to prospectively compare two CFNBS strategies: IRT/IRT and IRT/PAP (pancreatitis-associated protein). METHODS: A two-year prospective study was performed. IRT was measured in dried blood samples collected 48-72 h after birth. When an IRT value was abnormal, PAP was determined, and a second visit was scheduled to obtain another sample for IRT before 25 days of life. Newborns with a positive CFNBS were referred for a confirmatory sweat test. RESULTS: There were 69,827 births in the City of Buenos Aires during the period studied; 918 (1.31%) had an abnormal IRT. A total of 207 children (22.5%) failed to return for the second IRT, but only two PAP (0.2%) were not performed. IRT/IRT was more likely to lead to a referral for sweat testing than IRT/PAP (odds ratio 2.3 [95% confidence interval 1.8-2.9], p < .001). Sensitivity and specificity were: 80% and 100% and 86.5% and 82.6% for IRT/IRT and IRT/PAP strategies, respectively. CONCLUSION: The IRT/PAP strategy is more sensitive than IRT/IRT and has similar specificity; it avoids a second visit and unnecessary sweat testing, and it reduces loss to follow-up in our population.


Assuntos
Fibrose Cística/diagnóstico , Triagem Neonatal/métodos , Antígenos de Neoplasias/sangue , Argentina , Biomarcadores Tumorais/sangue , Criança , Regulador de Condutância Transmembrana em Fibrose Cística , Feminino , Humanos , Recém-Nascido , Lectinas Tipo C/sangue , Proteínas Associadas a Pancreatite/metabolismo , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Tripsinogênio/sangue
15.
J Pediatr ; 230: 100-105, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33098840

RESUMO

OBJECTIVE: To determine whether hour of life and mode of delivery affect auditory brainstem response (ABR) results in healthy infants with a gestational age of >35 weeks. STUDY DESIGN: This retrospective cohort study reviewed 31 984 infants tested during a standard birth hospitalization from 2014 to 2016 at Prentice Women's Hospital of Chicago. Per policy, ABRs were performed after 6 and 12 hours of life for vaginally and cesarean-delivered infants, respectively. Testing was repeated before discharge for infants who were referred once. For those infants who referred again, a third ABR was offered at no cost to families 10-14 days after discharge starting in 2016. RESULTS: ABR pass rates consistently and significantly increased with advancing hour of life at testing, starting at 10-11 hours of life for vaginally born infants and 30-32 hours for cesarean-born infants. This steady, incremental increase in the pass rate was maintained overall until the vaginal and cesarean groups reached plateaus at 42-44 and 48-52 hours of life, respectively. In 2016 and beyond, a third hearing screen after discharge lowered the referral rate to just 0.77%. CONCLUSIONS: This study of the results of ABR tests in over 30 000 well newborns demonstrates that delaying hearing screening until 10-11 hours for vaginally born infants and 30-32 hours for cesarean-born infants results in a statistically significant improvement in hearing pass rates.


Assuntos
Cesárea/estatística & dados numéricos , Potenciais Evocados Auditivos do Tronco Encefálico , Testes Auditivos/estatística & dados numéricos , Testes Auditivos/métodos , Humanos , Recém-Nascido , Triagem Neonatal/efeitos adversos , Triagem Neonatal/métodos , Estudos Retrospectivos , Fatores de Tempo
17.
J Paediatr Child Health ; 57(1): 12-14, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33078471

RESUMO

The coronavirus disease 2019 (COVID-19) cases was on an increasing trend, including in Malaysia. The Malaysian Ministry of Health had implemented a range of measures, such as the use of masks and social distancing, to reduce the risk of transmission. Traditionally, newborns are evaluated for neonatal jaundice using visual assessment, a capillary heel prick and serum bilirubin (SB) sampling in primary health-care clinics. This approach requires the physical presence of both parents and their newborns in the primary health-care clinics, causing crowding and increasing the risk of COVID-19 infections. To alleviate crowding, we implemented the transcutaneous bilirubin drive-through (DT) service, which is an established, non-invasive, painless and rapid method to determine the bilirubin levels. Throughout the screening, both parents and baby will be confined to their car. A total of 1842 babies were screened in our DT setting from April to July 2020. Of the total babies, 298 (16.1%) required venesection for SB measurement and 85 required admission for phototherapy. None with severe jaundice were missed since the implementation of this service. The average test duration per neonate was less than 5 min, while conventional venous bilirubin laboratory testing required an average of 1.5 h per neonate. The cost of the SB laboratory test and consumables was approximately USD 5 per test, with an estimated cost savings of USD 7720. DT screening may be introduced in health-care settings to reduce crowding and eliminate the need of painful blood sampling in newborns.


Assuntos
Assistência Ambulatorial/métodos , Bilirrubina/sangue , COVID-19/prevenção & controle , Controle de Infecções/métodos , Icterícia Neonatal/diagnóstico , Triagem Neonatal/métodos , Assistência Ambulatorial/organização & administração , Biomarcadores/sangue , COVID-19/epidemiologia , Feminino , Humanos , Recém-Nascido , Controle de Infecções/organização & administração , Icterícia Neonatal/sangue , Malásia/epidemiologia , Masculino , Triagem Neonatal/organização & administração , Pandemias
18.
Nucleic Acids Res ; 49(D1): D1207-D1217, 2021 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-33264411

RESUMO

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.


Assuntos
Ontologias Biológicas , Biologia Computacional/métodos , Bases de Dados Factuais , Doença/genética , Genoma , Fenótipo , Software , Animais , Modelos Animais de Doenças , Genótipo , Humanos , Recém-Nascido , Cooperação Internacional , Internet , Triagem Neonatal/métodos , Farmacogenética/métodos , Terminologia como Assunto
19.
Public Health Genomics ; 23(5-6): 184-189, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33302283

RESUMO

Genetic factors significantly contribute to the burden of hearing impairment (HI) in Ghana as there is a high carrier frequency (1.5%) of the connexin 26 gene founder variant GJB2-R143W in the healthy Ghanaian population. GJB2-R143W mutation accounts for nearly 26% of causes in families segregating congenital non-syndromic HI. With HI associated with high genetic fitness, this indicates that Ghana will likely sustain an increase in the number of individuals living with inheritable HI. There is a universal newborn hearing screening (UNHS) program in Ghana. However, this program does not include genetic testing. Adding genetic testing of GJB2-R143W mutation for the population, prenatal and neonatal stages may lead to guiding genetic counseling for individual and couples, early detection of HI for at-risk infants, and improvement of medical management, including speech therapy and audiologic intervention, as well as provision of the needed social service to enhance parenting and education for children with HI. Based on published research on the genetics of HI in Ghana, we recommend that the UNHS program should include genetic screening for the GJB2-R143W gene variant for newborns who did not pass the initial UNHS tests. This will require an upgrade and resourcing of public health infrastructures to implement the rapid and cost-effective GJB2-R143W testing, followed by appropriate genetic and anticipatory guidance for medical care.


Assuntos
Conexina 26/genética , Testes Genéticos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva/diagnóstico , Triagem Neonatal/métodos , Criança , Pré-Escolar , Feminino , Efeito Fundador , Gana/epidemiologia , Política de Saúde , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Saúde Pública
20.
JAMA Netw Open ; 3(12): e2027561, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33263763

RESUMO

Importance: Congenital heart disease (CHD) is the most common congenital malformation in humans worldwide. Circulating cardiovascular biomarkers could potentially improve the early detection of CHD, even in asymptomatic newborns. Objectives: To assess the performance of a dried blood spot (DBS) test to measure the cardiovascular biomarker amino terminal fragment of the prohormone brain-type natriuretic peptide (NT-proBNP) levels in newborns and to compare DBS with standard EDTA analysis in control newborns during the first week of life. Design, Setting, and Participants: This diagnostic study was conducted in a single regional pediatric service in southern Sweden. Healthy, term neonates born between July 1, 2018, and May 31, 2019, were prospectively enrolled and compared against retrospectively identified newborns with CHD born between September 1, 2003, and September 30, 2019. Neonates who required inpatient treatment beyond the standard postnatal care were excluded. Exposure: New DBS test for NT-proBNP quantification in newborns that used 3 µL of blood vs the current screening standard. Main Outcomes and Measures: Performance of the new test and when combined with pulse oximetry screening was measured by receiver operating characteristic curve analysis. Performance of the new test and EDTA screening was compared using Pearson linear correlation analysis. Results: The DBS samples of 115 neonates (81 control newborns and 34 newborns with CHD, of whom 63 were boys [55%] and the mean [SD] gestational age was 39.6 [1.4] weeks) were analyzed. The new NT-proBNP test alone identified 71% (n = 24 of 34) of all CHD cases and 68% (n = 13 of 19) of critical CHD cases as soon as 2 days after birth. Detection of any CHD type improved to 82% (n = 28 of 34 newborns) and detection of critical CHD improved to 89% (n = 17 of 19 newborns) when combined pulse oximetry screening and NT-proBNP test results were used. Performance of the NT-proBNP test was excellent when control newborns were matched to newborns with CHD born between July 1, 2018, and May 31, 2019 (area under the curve, 0.96; SE, 0.027; 95% CI, 0.908-1.0; asymptotic P < .05). Conclusions and Relevance: This study found that NT-proBNP assay using minimal DBS samples appears to be timely and accurate in detecting CHD in newborns and to discriminate well between healthy newborns and newborns with various types of CHD. This finding warrants further studies in larger cohorts and highlights the potential of NT-proBNP to improve neonatal CHD screening.


Assuntos
Teste em Amostras de Sangue Seco/métodos , Cardiopatias Congênitas/diagnóstico , Peptídeo Natriurético Encefálico/sangue , Triagem Neonatal/métodos , Fragmentos de Peptídeos/sangue , Biomarcadores/sangue , Diagnóstico Precoce , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Estudos Prospectivos , Curva ROC , Estudos Retrospectivos , Suécia
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