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1.
MMWR Morb Mortal Wkly Rep ; 69(36): 1269-1272, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32915167

RESUMO

Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. Depending on the genotype, alpha-thalassemia results in moderate to profound anemia, hemolysis, growth delays, splenomegaly, and increased risk for thromboembolic events; certain patients might require chronic transfusions. Although alpha-thalassemia is not a core condition of the United States Recommended Uniform Screening Panel* for state newborn screening programs, methodologies used by some newborn screening programs to detect sickle cell disease, which is a core panel condition, also detect a quantitative marker of alpha-thalassemia, hemoglobin (Hb) Bart's, an abnormal type of hemoglobin. The percentage of Hb Bart's detected correlates with alpha-thalassemia severity. The Association of Public Health Laboratories' Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs' alpha-thalassemia screening methodologies and reporting and follow-up practices. Survey findings indicated that 41 of 44 responding programs (93%) report some form of alpha-thalassemia results and 57% used a two-method screening protocol. However, the percentage of Hb Bart's used for thalassemia classification, the types of alpha-thalassemia reported, and the recipients of this information varied widely. These survey findings highlight the opportunity for newborn screening programs to revisit their policies as they reevaluate their practices in light of the recently released guideline from the Clinical and Laboratory Standards Institute (CLSI) on Newborn Screening for Hemoglobinopathies (1). Although deferring to local programs for policies, the report used a cutoff of 25% Hb Bart's in its decision tree, a value many programs do not use. Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia.


Assuntos
Triagem Neonatal/métodos , Talassemia alfa/diagnóstico , Feminino , Pesquisas sobre Serviços de Saúde , Humanos , Recém-Nascido , Masculino , Estados Unidos/epidemiologia , Talassemia alfa/epidemiologia
2.
Breastfeed Med ; 15(8): 492-494, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32644841

RESUMO

Aim: The objective of our study was to determine whether the SARS-CoV-2-positive mothers transmit the virus to their hand-expressed colostrum. Methods: This is an observational prospective study that included pregnant women who tested positive for SARS-CoV-2 by PCR test on a nasopharyngeal swab at the moment of childbirth and who wanted to breastfeed their newborns. A colostrum sample was obtained from the mothers by manual self-extraction. To collect the samples, the mothers wore surgical masks, washed their hands with an 85% alcohol-based gel, and washed their breast with gauze that was saturated with soap and water. Results: We obtained seven colostrum samples from different mothers in the first hours postdelivery. SARS-CoV-2 was not detected in any of the colostrum samples obtained in our study. Conclusion: In our study, breast milk was not a source of SARS-CoV-2 transmission. Hand expression (assuring that a mask is used and that appropriate hygienic measures are used for the hands and the breast), when direct breastfeeding is not possible, appears to be a safe way of feeding newborns of mothers with COVID-19.


Assuntos
Betacoronavirus/isolamento & purificação , Aleitamento Materno/métodos , Extração de Leite/métodos , Colostro/virologia , Infecções por Coronavirus , Leite Humano/virologia , Pandemias , Pneumonia Viral , Complicações Infecciosas na Gravidez , Adulto , Técnicas de Laboratório Clínico/métodos , Controle de Doenças Transmissíveis/métodos , Controle de Doenças Transmissíveis/normas , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/transmissão , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Masculino , Triagem Neonatal/métodos , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/transmissão , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Espanha/epidemiologia
3.
Ann Biol Clin (Paris) ; 78(4): 383-397, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32666924

RESUMO

The SFBC-CNBH-CNRHP "Neonatal bilirubin" working group performed a biological and clinical study on bilirubin use in neonates for reliable diagnosis and appropriate management of neonatal jaundice. A brief report of a national survey on analytical and biological practices in France is shown. The guidelines of the French Society of Neonatology (SFN) founded the decision of phototherapy set up upon an accurate lab measurement of total serum bilirubin. An abacus is proposed with defined thresholds, as a function of neonate lifetime in hours. However, several studies evidenced poor comparability of results obtained with the different available methods. This situation is partly due to the lack of reference materials, especially for high bilirubin concentrations. Clinical consequences might be observed. We present in this paper the results of a national harmonization study to progress on this issue. Beyond the analytical aspects, the clinical consequences of harmonization defects were investigated. Finally, guidelines for clinical laboratories are proposed, to be locally adapted.


Assuntos
Testes Hematológicos/normas , Hiperbilirrubinemia Neonatal/diagnóstico , Icterícia Neonatal/diagnóstico , Triagem Neonatal/normas , Guias de Prática Clínica como Assunto , Bilirrubina/sangue , França , Testes Hematológicos/métodos , Humanos , Hiperbilirrubinemia Neonatal/sangue , Hiperbilirrubinemia Neonatal/terapia , Recém-Nascido , Icterícia Neonatal/sangue , Icterícia Neonatal/terapia , Laboratórios/normas , Ensaio de Proficiência Laboratorial/normas , Triagem Neonatal/métodos , Fototerapia/métodos , Fototerapia/normas , Padrões de Referência
4.
Neurology ; 95(5): e591-e600, 2020 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-32616675

RESUMO

OBJECTIVE: To quantify benchmark treatment outcomes that may be enabled by newborn screening surveillance for X-linked adrenoleukodystrophy (ALD), we report neurocognitive, neuropsychiatric, and MRI change for boys who underwent hematopoietic stem cell transplant (HSCT) at initial stages of demyelination, prior to neurocognitive signs of disease. METHODS: Retrospective chart review identified 36 patients whose cerebral ALD was detected and treated early, with lesion severity less than 5 on the ALD-specific MRI scoring system. Median age at transplant was 7.3 years (range, 4.0-16.1). Progression of radiologic disease on MRI in the 2 years following HSCT was examined relative to the severity of the initial lesion for 33 patients, and longitudinal neurocognitive and neuropsychiatric outcomes were studied for 30 patients. RESULTS: Patients whose pretransplant lesion extended beyond the splenium of the corpus callosum and adjacent periventricular white matter (MRI severity score >2) demonstrated lower posttransplant neurocognitive scores, more neuropsychiatric symptoms, and more disease progression on MRI than patients with a less severe lesion. Changes from baseline neurocognitive functioning were greater at 2 years posttransplant as compared to 1 year. There was greater variance and risk of lesion progression as pretransplant MRI severity increased. CONCLUSION: To realize the full benefits of newborn screening, clinicians must detect very small demyelinating lesions during surveillance and intervene quickly. Novel interventions that reduce risks inherent in allogeneic transplantation are needed. Trial endpoints should include direct neurocognitive assessment and extend at least 2 years posttreatment to provide the greatest sensitivity to detect neurocognitive morbidity.


Assuntos
Adrenoleucodistrofia/patologia , Adrenoleucodistrofia/terapia , Benchmarking , Transplante de Células-Tronco Hematopoéticas/métodos , Adolescente , Adrenoleucodistrofia/diagnóstico , Criança , Pré-Escolar , Diagnóstico Precoce , Humanos , Recém-Nascido , Imagem por Ressonância Magnética , Masculino , Triagem Neonatal/métodos , Resultado do Tratamento
6.
Chest ; 158(1): e5-e7, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32654740
8.
Lancet Haematol ; 7(7): e534-e540, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32589979

RESUMO

BACKGROUND: Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care programme. Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed. We aimed to test the feasibility of implementing a sickle cell disease screening programme using innovative point-of-care test devices into existing immunisation programmes in primary health-care settings. METHODS: Building on a routine immunisation programme and using existing facilities and staff, we did a prospective feasibility study at five primary health-care centres within Gwagwalada Area Council, Abuja, Nigeria. We systematically screened for sickle cell disease consecutive newborn babies and infants younger than 9 months who presented to immunisation clinics at these five centres, using an ELISA-based point-of care test (HemoTypeSC). A subgroup of consecutive babies who presented to immunisation clinics at the primary health-care centres, whose mothers gave consent, were tested by the HemoTypeSC point-of-care test alongside a different immunoassay-based point-of-care test (SickleSCAN) and the gold standard test, high-performance liquid chromatography (HPLC). FINDINGS: Between July 14, 2017, and Sept 3, 2019, 3603 newborn babies and infants who presented for immunisation were screened for sickle cell disease at five primary health-care centres using the ELISA-based point-of-care test. We identified 51 (1%) children with sickle cell anaemia (HbSS), four (<1%) heterozygous for HbS and HbC (HbSC), 740 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA and HbC (HbAC), and 2774 (77%) with normal haemoglobin (HbAA). Of the 55 babies and infants with confirmed sickle cell disease, 41 (75%) were enrolled into a programme for free folic acid and penicillin, of whom 36 (88%) completed three visits over 9 months (median follow-up 226 days [IQR 198-357]). The head-to-head comparison between the two point-of-care tests and HPLC showed concordance between the three testing methods in screening 313 newborn babies, with a specificity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC, and a sensitivity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC. INTERPRETATION: Our pilot study shows that the integration of newborn screening into existing primary health-care immunisation programmes is feasible and can rapidly be implemented with limited resources. Point-of-care tests are reliable and accurate in newborn screening for sickle cell disease. This feasibility study bodes well for the care of patients with sickle cell disease in resource-poor countries. FUNDING: Doris Duke Charitable Foundation, Imperial College London Wellcome Trust Centre for Global Health Research, and Richard and Susan Kiphart Family Foundation.


Assuntos
Anemia Falciforme/diagnóstico , Prestação Integrada de Cuidados de Saúde/organização & administração , Triagem Neonatal , Testes Imediatos/organização & administração , Estudos de Viabilidade , Feminino , Humanos , Programas de Imunização/organização & administração , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Triagem Neonatal/organização & administração , Nigéria , Projetos Piloto , Estudos Prospectivos
9.
Zhonghua Er Ke Za Zhi ; 58(6): 476-481, 2020 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-32521959

RESUMO

Objective: To evaluate and improve the performance of the newborn screening program for primary carnitine deficiency (PCD) based on tandem mass spectrometry and to investigate the incidence of PCD and molecular characteristics of SLC22A5 gene in Guangzhou. Methods: A total of 200 180 neonates born in Guangzhou from 2015 to 2019 were enrolled into the newborn screening program for PCD by tandem mass spectrometry at Guangzhou Newborn Screening Center. The positive results of screening for PCD was defined as free carnitine (C0) less than 10 µmol/L with decreased acylcarnitine species in dried blood spots of three to seven days after birth. Screen-positive newborns and their mothers were recalled for another blood spot sample. The diagnosis was confirmed based on decreased levels of C0 and acylcarnitine species in recalled blood spots and genetic analysis in SLC22A5 gene sequencing. The utility of using the sum of propionylcarnitine and palmitoylcarnitine (C3+C16) as a biomarker for acylcarnitine species in newborn screening was retrospectively evaluated. The levels of C0 and (C3+C16) at first screening were compared between newborns with PCD and newborns born to mothers with PCD by independent t test. The variant spectrum and known pathogenic variants carrier rate of SLC22A5 in 2 395 healthy children in Guangzhou Women and Children's Medical Center through whole exon sequencing were analyzed. Results: Among 200 180 neonates, 239 (0.12%) cases were screen-positive for PCD. A total of 37 patients including 15 newborns and 22 mothers had confirmed PCD. The incidence of PCD was 1/13 345 in newborns and 1/9 099 in mothers, respectively. The positive predictive value of this program was 15.5%. Taking cutoff values of C0<8.5 µmol/L or C0 8.5~9.9 µmol/L with (C3+C16)<2 µmol/L, the number of screen-positive cases would be reduced from 810 to 224 without additional false negative case, when compared with cutoff value C0<10 µmol/L only. Both levels of C0 and (C3+C16) at first screening were not significant difference between newborns with PCD and newborns born to mothers with PCD ((6.2±2.4) vs. (5.0±1.8) µmol/L, (1.4±0.4) vs. (1.2±0.5) µmol/L, t=3.826, 0.326; P=0.058, 0.572). Seven PCD mothers experienced moderate fatigue and dizziness in the morning. One of them presented with cardiomyopathy in pregnancy. Genetic analysis of the SLC22A5 gene showed that p.S467C, p.F17L, p.R254X were the three most common variants in newborns with PCD. In PCD mothers and healthy children, the p.S467C, p.F17L and R399W were the three most common whereas the severe variant p.R254X was rare. The population carrier rate for pathogenic variants was 1 in 65 and the estimated incidence of PCD was about 1/16 500. Conclusions: Newborn screening can detect PCD both in newborns and mothers. Adding a quantitative biomarker (C3+C16) <2 µmol/L into the newborn screening program can improve the PCD screen performance. The severe variant p.R253X was common in PCD newborns but rare in PCD mothers and healthy children, indicating that the current screening program maybe failed to detect all PCD newborns and under-estimated the incidence rate of PCD in Guangzhou.


Assuntos
Cardiomiopatias/genética , Carnitina/sangue , Carnitina/deficiência , Hiperamonemia/diagnóstico , Doenças Musculares/diagnóstico , Triagem Neonatal/métodos , Membro 5 da Família 22 de Carreadores de Soluto/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/metabolismo , Carnitina/genética , Criança , Feminino , Predisposição Genética para Doença , Humanos , Hiperamonemia/genética , Recém-Nascido , Doenças Musculares/genética , Gravidez , Estudos Retrospectivos , Espectrometria de Massas em Tandem
10.
Medicine (Baltimore) ; 99(26): e20838, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32590776

RESUMO

Congenital hypothyroidism (CH) is one of the most common neonatal endocrine diseases. This retrospective cohort study aimed to identify the potential perinatal risk factors for CH and to differentiate between transient and permanent CH (TCH and PCH, respectively) as well as determine their prevalence in a southeastern Chinese population.This study was based on an 18-year surveillance of a neonatal CH screening program in a large tertiary hospital. A retrospective review of the maternal and neonatal perinatal exposures was conducted.Of the 205,834 newborns screened between 2000 and 2018, 189 were diagnosed with CH (1/1089). Among the 131 CH patients who again underwent thyroid function testing (TFT) after discontinuation of levothyroxine at the age of 3 years, 61 (46.6%) were diagnosed with PCH and 70 (53.4%) were diagnosed with TCH. In the maternal characteristics model, women aged 35 years or older and those who had thyroid disease and/or diabetes mellitus during pregnancy had increased risk of having an offspring with CH (P = .001, .000, and .001, respectively). Significant associations were found with regard to parity and the risk of CH in the offspring (P = .000). In the neonatal characteristics model, infants with female sex, preterm birth, post-term birth, low birth weight, other birth defects, and those born as part of multiple births (P = .011, .034, .001, .000, .000, and .003, respectively) had increased risk of CH. The rate of newborns with other birth defects was higher in the PCH group than that in the TCH group (P = .008), whereas the rate of maternal thyroid disease, newborns with low birth weight, and newborns with preterm birth was higher in the TCH group than that in the PCH group (P = .041, .020, and .013, respectively). The levothyroxine dose (µg/kg/day) at 1 year, 2 years, and 3 years old was significantly lower in the TCH group than that in the PCH group (P = .000, .000, and .000, respectively).Perinatal factors should be considered during the diagnosis and treatment of CH.


Assuntos
Hipotireoidismo Congênito/diagnóstico , China/epidemiologia , Estudos de Coortes , Hipotireoidismo Congênito/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Vigilância da População/métodos , Prevalência , Estudos Retrospectivos , Fatores de Risco , Estatísticas não Paramétricas , Centros de Atenção Terciária/organização & administração , Centros de Atenção Terciária/estatística & dados numéricos , Tireotropina/análise , Tireotropina/sangue
11.
Eur J Endocrinol ; 183(3): 265-273, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32580148

RESUMO

Objective: Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth due to disorders of the thyroid gland (thyroidal CH, CH-T), or the hypothalamus or pituitary (central CH, CH-C). The Dutch Newborn Screening (NBS) strategy is primarily based on determination of thyroxine (T4) concentrations in dried blood spots followed, if necessary, by thyroid-stimulating hormone (TSH) and thyroxine-binding globulin (TBG) measurement enabling detection of both CH-T and CH-C. A calculated T4/TBG ratio serves as an indirect measure for free T4. A T4/TBG ratio ≤ 17 in a second heel puncture is suggestive of CH-C. Design and methods: In the present study, we evaluated 11 years of Dutch CH NBS using a database of referred cases by assessing the contribution of each criterion in the unique stepwise T4-TSH-TBG NBS algorithm. Results: Between 2007 and the end of 2017, 1 963 465 newborns were screened in the Netherlands. Use of the stepwise algorithm led to 3044 referrals and the identification of 612 CH cases, consisting of 496 CH-T, 86 CH-C, and 30 CH of unknown origin diagnoses. We detected 62.8% of CH-C cases by the T4/TBG ratio in the second heel puncture. The positive predictive value (PPV) of the stepwise T4-TSH-TBG NBS algorithm was 21.0%. Conclusion: This evaluation shows that the Dutch stepwise T4-TSH-TBG NBS algorithm with a calculated T4/TBG ratio is of great value for the detection of both CH-T and CH-C in the Netherlands, at the cost of a lower PPV compared to TSH-based NBS strategies.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Triagem Neonatal/métodos , Algoritmos , Bases de Dados Factuais , Feminino , Humanos , Hipotálamo/patologia , Recém-Nascido , Masculino , Países Baixos , Hipófise/patologia , Testes de Função Tireóidea , Glândula Tireoide/patologia
12.
Pediatrics ; 146(1)2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32499387

RESUMO

Seven years after its addition to the US Recommended Uniform Screening Panel, newborn screening for critical congenital heart disease (CCHD) using pulse oximetry became mandatory in the United States. Although CCHD newborn screening reduces morbidity and mortality, there remain important opportunities to improve. An expert panel convened for a 1-day meeting in September 2018, including subject matter experts and representatives from stakeholder organizations. Presentations on CCHD outcomes, variations in approach to screening, and data and quality improvement helped identify improvement opportunities. The expert panel concluded that sufficient evidence exists to recommend modifying the current American Academy of Pediatrics algorithm by (1) requiring an oxygen saturation of at least 95% in both (formerly either) the upper and lower extremities to pass and (2) requiring only 1 repeat screen instead of 2 for cases that neither pass nor fail initially. The panel underscored the importance of improving public health reporting by further specifying the targets of screening and criteria for reporting outcomes (false-negative and false-positive cases). The panel also highlighted the need to ensure sufficient public health funding for CCHD newborn screening and opportunities for education and global implementation. Newborn screening for CCHD using pulse oximetry has led to significant improvements in child health outcomes. However, further important work is required to understand and improve the effectiveness and efficiency of screening.


Assuntos
Algoritmos , Estado Terminal , Cardiopatias Congênitas/diagnóstico , Triagem Neonatal/métodos , Oximetria/normas , Melhoria de Qualidade , Humanos , Recém-Nascido
13.
Pediatrics ; 146(1)2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32591436

RESUMO

Congenital cytomegalovirus (cCMV) is the most common congenital infection and is associated with sensorineural hearing loss, developmental delays, and visual impairment. The clinical presentation of cCMV is variable, and the majority (80%-90%) of newborns will never manifest any clinical symptoms. Given the clinical heterogeneity of cCMV infection, it is challenging to identify which newborns may benefit from testing. Recently, certain states have implemented a targeted screening program in which newborns who fail the newborn hearing screen are tested for cCMV. Clinicians and legislative bodies have been propelled into debates about the ethical and moral permissibility of a targeted cCMV screening approach. Those who oppose this screening approach describe undue burden on patients, families, and the health care system because the majority of newborns who fail the newborn hearing screen and have cCMV will not go on to have any sequelae related to cCMV, including hearing loss. However, those who support this screening approach cite the importance of early detection and ongoing surveillance for hearing loss and developmental delays in this high-risk group of newborns. This debate will be considered by experts in the field.


Assuntos
Infecções por Citomegalovirus/congênito , Diagnóstico Precoce , Perda Auditiva Neurossensorial/diagnóstico , Triagem Neonatal/métodos , Citomegalovirus , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Testes Auditivos/métodos , Humanos , Recém-Nascido
14.
Med Sci (Paris) ; 36(5): 515-520, 2020 May.
Artigo em Francês | MEDLINE | ID: mdl-32452374

RESUMO

The genetic tests for "non-rare thrombophilias" (TNR) were introduced into clinical setting immediately after the identification of genetic variants in the mid-90s to predict and prevent venous thromboembolism (VTE). Although being a rare example of a genetic test of susceptibility for complex diseases that has been integrated in medical routine, it is the most widespread post-natal genetics inquiry in France nowadays. Yet, determining whom to test and how to use the results is still controversial. This article outlines the trajectory of its clinical regulation and illustrates the importance of the context of use to understand its diffusion. This analysis is intended to feed a more general reflection on the issues raised by the clinical integration of genetic surveys for common diseases, particularly with regard to the clinical utility of a test (statistical vs. biological), the subjects to be tested (the case index and/or her/his relatives), and the criteria underlying access to these tests (modalities of medico-economic assessment).


Assuntos
Testes Genéticos , Trombofilia/diagnóstico , Trombofilia/genética , Acesso à Informação/legislação & jurisprudência , Revelação/ética , Revelação/legislação & jurisprudência , França/epidemiologia , Predisposição Genética para Doença , Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/métodos , Acesso aos Serviços de Saúde/ética , Acesso aos Serviços de Saúde/legislação & jurisprudência , História do Século XXI , Humanos , Recém-Nascido , Legislação Médica , Futilidade Médica/ética , Futilidade Médica/legislação & jurisprudência , Triagem Neonatal/ética , Triagem Neonatal/legislação & jurisprudência , Triagem Neonatal/métodos , Padrões de Prática Médica/ética , Padrões de Prática Médica/legislação & jurisprudência , Padrões de Prática Médica/tendências , Valor Preditivo dos Testes , Trombofilia/epidemiologia
15.
Rev Saude Publica ; 54: 44, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32374803

RESUMO

OBJECTIVE: To evaluate Newborn Hearing Screening Program of Hospital Regional de Sobradinho, from January 2016 to December 2017, according to Multiprofessional Committee on Auditory Health parameters and Joint Committee on Infant Hearing (JCIH) recommendations, as well as to describe the prevalence of risk factors for hearing loss within the study population and their impact on the respective program. METHOD: This is a quantitative, cross-sectional and retrospective study that carefully analyzed registration books of screened newborns. It was established the prevalence of "pass" and "fail" in test and retest, retest percentage of attendance and referral for audiological diagnosis. Risk factors for hearing loss were described, as well as their influence on "pass" and "fail" rates. Inferential statistical analysis was performed using chi-square test and Anderson-Darling test, with 5% reliability index. RESULTS: A total of 3,981 newborns were screened; 2,963 (74.4%) presented no risk factors whereas 1,018 (25.6%) did, prematurity being the most frequent (51.6%). In the test, 166 (4.2%) failed and 118 (71.1%) attended the retest. The referral rate for diagnosis was 0.3%. CONCLUSION: Regarding the percentage of referral for diagnosis, the program reached indexes recommended by the Joint Committee on Infant Hearing and Multiprofessional Committee on Auditory Health. The most prevalent risk factor within the population was prematurity.


Assuntos
Testes Auditivos/métodos , Triagem Neonatal/métodos , Avaliação de Programas e Projetos de Saúde , Brasil/epidemiologia , Estudos Transversais , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Testes Auditivos/normas , Testes Auditivos/estatística & dados numéricos , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Registros Médicos , Triagem Neonatal/normas , Prevalência , Estudos Retrospectivos , Fatores de Risco
16.
Medicina (B Aires) ; 80(3): 197-202, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32442933

RESUMO

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder due to a deficiency of enzymes involved in cortisol biosynthesis. In more than 90% of cases, CAH is secondary to deleterious mutations in the CYP21A2 gene leading to 21-hydroxilase deficiency (21OHD). The CYP21A2 gene is located on the short arm of chromosome 6 (6p21·3) and encodes the cytochrome P450C21 enzyme. Neonatal screening programs detect the classic forms of CAH-21OHD quantifying 17OH-progesterone in dried blood spots (DBS). This test is very sensitive, but it has a low specificity, requiring a second sample to confirm the result. In these cases, a second-tier test in the same sample may be useful. Our aim was to evaluate a DNA extraction method from DBS and assess the performance of such DNA in the molecular analysis of the CYP21A2 gene mutations. Twelve individuals, who presumably had CAH based on the initial neonatal screening results, were analyzed using DNA extracted from freshly collected blood on EDTA and DBS. The CYP21A2 gene was analyzed by automated sequencing of all exons and intron boundaries and MLPA analysis in DBS. Molecular analysis results from both extraction methods were compared. In this study, we show that DNA extracted from neonatal screening DBS is a useful tool to define CYP21A2 gene mutations in 21-OHD diagnostic confirmation for the newborn screening program and that its results are comparable to traditional genotyping.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Teste em Amostras de Sangue Seco/métodos , Mutação , Triagem Neonatal/métodos , Esteroide 21-Hidroxilase/genética , 17-alfa-Hidroxiprogesterona/análise , Alelos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase , Valores de Referência , Reprodutibilidade dos Testes , Espectrofotometria
17.
J Infect Chemother ; 26(8): 790-794, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32273174

RESUMO

OBJECTIVES: This prospective cohort study aimed to evaluate the efficacy of the universal neonatal urine screening, followed by diagnosis, workup and antiviral therapy for symptomatic congenital cytomegalovirus (CMV) infection to reduce neurological impairments and sequelae. METHODS: Neonates born in three facilities underwent the universal urine screening of PCR analyses for CMV-DNA. Neonates with symptomatic congenital CMV infection (cCMV) received oral valganciclovir (VGCV) of 32 mg/kg/day for six weeks or six months, and were evaluated for neurological outcomes including developmental quotient (DQ) and hearing function at around 18 months of corrected age. RESULTS: cCMV was diagnosed in 56 (0.48%) of 11,736 neonates, consisting of 23 neonates with symptomatic and 33 with asymptomatic cCMV. The incidence of cCMV in the general perinatal medical center (0.69%) was higher than that in the primary maternity hospital (0.23%, p<0.01%). Twenty of the 23 infants with symptomatic cCMV received VGCV therapy, and 19 underwent neurological assessment. Eight neonates (42%) had severe sequelae of DQ < 70, bilateral hearing dysfunction, and/or epilepsy. Four neonates (21%) had mild sequelae of DQ 70-79 or unilateral hearing dysfunction only, and seven (37%) showed normal development without any impairment. CONCLUSIONS: This study on a large scale demonstrated that a series of universal neonatal urine screening, diagnosis, workup, and VGCV therapy for neonates with symptomatic cCMV may decrease neurological impairments, because 58% of the treated infants had normal development or mild sequelae. The universal urine screening likely identifies subclinical symptomatic cCMV. Mothers with fetuses of cCMV seem to be selectively transferred to perinatal medical centers before deliveries.


Assuntos
Infecções por Citomegalovirus/epidemiologia , Infecções por Citomegalovirus/urina , Citomegalovirus/isolamento & purificação , Triagem Neonatal/métodos , Antivirais/administração & dosagem , Estudos de Coortes , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/tratamento farmacológico , DNA Viral/urina , Humanos , Recém-Nascido , Estudos Prospectivos , Resultado do Tratamento , Urina/virologia , Valganciclovir/administração & dosagem
18.
Transfusion ; 60(5): 1069-1077, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32315090

RESUMO

BACKGROUND: Phlebotomy is among the main determinants of anemia of prematurity. Blood sparing policies endorsed umbilical cord blood (here called placental) as an alternative source for laboratory testing. Little is known on the suitability of placental blood to evaluate neonatal hemostasis of newborn infants. We aimed to compare the hemostatic profile of paired placental and infant venous blood, by means of prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, antithrombin, protein C, thromboelastography (TEG) and thrombin generation assay (TGA). STUDY DESIGN: This was an observational single-center study. METHODS: We collected at birth venous citrated blood from both placental and infant venous source and performed PT, APTT, fibrinogen, antithrombin, protein C, TEG (reaction time-R; kinetics-K alpha angle-α, maximum amplitude-MA and lysis at 30 minutes-LY30), and TGA (endogenous thrombin potential-ETP). RESULTS: We enrolled 60 neonates with a median gestational age (range) of 37 weeks (28+1 -41) and birth-weight 2417 g (950-4170). Based on TEG and TGA, placental blood showed a procoagulant imbalance as indicated by lower median R (4.0 vs. 6.1 min; p < 0.001) and K (1.3 vs. 2.2 min; p < 0.001); higher α-angle (69.7 vs. 57.4°; p < 0.001) and ETP (1260 vs. 1078; p = 0.002) than those observed for infant venous blood. PT and APTT did not differ significantly between the two groups. CONCLUSIONS: While placental and neonatal blood samples are equally suitable to measure the standard coagulation tests PT and APTT, placental blood leads to a procoagulant imbalance when testing is performed with TEG or TGA. These effects should be considered when interpreting results stemming from investigation of neonatal hemostasis.


Assuntos
Transtornos da Coagulação Sanguínea/diagnóstico , Hemostasia/fisiologia , Doenças do Recém-Nascido/diagnóstico , Triagem Neonatal/métodos , Placenta/irrigação sanguínea , Transtornos da Coagulação Sanguínea/sangue , Testes de Coagulação Sanguínea , Feminino , Sangue Fetal/fisiologia , Fibrinogênio/análise , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/sangue , Masculino , Tempo de Tromboplastina Parcial , Parto/sangue , Flebotomia/métodos , Flebotomia/normas , Gravidez , Tempo de Protrombina , Reprodutibilidade dos Testes , Trombina/análise
20.
Endocrinol. diabetes nutr. (Ed. impr.) ; 67(3): 172-178, mar. 2020. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-188145

RESUMO

Introducción: La patología tiroidea es un problema frecuente en las mujeres embarazadas. Su etiología suele ser autoinmune siendo la tiroiditis de Hashimoto y la enfermedad de Graves las entidades principales. A pesar de las posibles alteraciones hormonales y del paso transplacentario de anticuerpos estimulantes, la realización de un cribado neonatal específico no ha demostrado su utilidad en el neonato. Pacientes y métodos: Estudio prospectivo (noviembre de 2013-diciembre de 2016) de los hijos de madre con patología tiroidea autoinmune nacidos en un hospital universitario nivel III. Los recién nacidos se seleccionaron en maternidad. Se excluyeron los casos de asfixia perinatal. Los datos se recogieron de las historias clínicas de madres y recién nacidos. Resultados: Se incluyeron 191 recién nacidos. El 90% de las madres estaban diagnosticadas de hipotiroidismo autoinmune, de cuyos hijos solo un 5,8% tuvo alguna alteración analítica tratándose de leves ascensos de tirotropina, con normalización al mes de vida, no correlacionándose con los niveles de anti-TPO. Se diagnosticó una hipertirotropinemia transitoria que precisó tratamiento durante el primer año de vida. El 36,8% de los hijos de madre con Graves tuvo algún control analítico alterado en los primeros 7 días de vida, no diagnosticándose ningún caso de hipertiroidismo y solo una hipertirotropinemia transitoria. Conclusiones: La experiencia de nuestro centro en el manejo del cribado neonatal tiroideo muestra un elevado número de controles analíticos con un escaso rendimiento diagnóstico. No encontramos relación entre niveles de anticuerpos anti-TPO y disfunción tiroidea. Apoyamos las recomendaciones de mantener el cribado neonatal universal como única exploración en los hijos de madre hipotiroidea


Introduction: Thyroid dysfunction is a common problem in pregnant women. It is usually of an autoimmune origin, with Hashimotós thyroiditis and Graveś disease being the most common conditions. Although hormonal changes and transplacental antibody transfer may occur, specific neonatal screening has not been shown to be useful. Patients and method: A prospective study of newborns of women with autoimmune thyroid disease born at a level III university hospital (November 2013-December 2016). Neonates were selected during their stay at the maternity. Babies with perinatal asphyxia were excluded. Data were collected from the clinical histories of mothers and newborns. Results: A total of 191 neonates were included. Ninety percent of mothers had been diagnosed with autoimmune hypothyroidism. Only 5.8% of newborns had some laboratory disorder, consisting of slightly increased thyroid-stimulating hormone levels, which returned to normal at the age of one month and did not correlate to thyroid peroxidase antibody levels. Transient hyperthyrotropinemia was diagnosed in one newborn and required thyroxin treatment during the first year of life. Among newborns from mothers with Graveś disease, 36.8% had some abnormal laboratory value during the first 7 days of life, but there were no cases of hyperthyroidism and only one of transient hyperthyrotropinemia. Conclusions: Experience at our hospital in screening of newborns from hypothyroid mothers reveals a high number of laboratory controls with a poor diagnostic yield. No relationship was found between thyroid peroxidase antibody levels and thyroid dysfunction. We support the recommendations to continue testing serum thyroid-stimulating hormone and FT4 levels at 48h of life in newborns of mothers with autoimmune hypothyroidism


Assuntos
Humanos , Masculino , Feminino , Gravidez , Recém-Nascido , Adulto , Tireoidite Autoimune/etiologia , Hipotireoidismo/complicações , Complicações na Gravidez , Estudos Prospectivos , Triagem Neonatal/métodos , Tireoidite Autoimune/diagnóstico , Iodeto Peroxidase/análise , Idade Gestacional , Hipertireoidismo/diagnóstico , Técnicas Imunoenzimáticas , Doença de Graves/complicações
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