Rastreramento da sífilis no pré - natal: oportunidades perdidas em uma maternidade pública na cidade do Recife, Brasil / Syphilis Screening during prenatal development: missed opportunities in a public maternity hospital in Recife, Brazil

De acordo com as normas do Programa de Humanização no Pré-Natal e Nascimento, do Ministério da Saúde, a gestante deve realizar dois exames laboratoriais para detecção da sífilis. Objetivo: Avaliar oportunidades perdidas no rastreamento de sífilis gestacional e identificar fatores associados à não realização do teste Venereal Disease Research Laboratory (VDRL) no pré-natal. Métodos: Estudo de corte transversal realizado em maternidade do Sistema Único de Saúde da cidade do Recife, no Nordeste do Brasil. Foram estudadas 460 mulheres admitidas por término da gravidez e/ou abortamento, entre setembro e outubro de 2013, que realizaram ao menos uma consulta de pré-natal. Foram realizadas entrevistas e consulta ao cartão de pré-natal e prontuários. As mulheres que não realizaram pelo menos um VDLR no pré-natal (categoria de referência) foram comparadas com aquelas que realizaram. Nas informações colhidas nos 408 cartões da gestante, foi utilizada a regressão logística para identificar fatores associados com a não realização do rastreio. Resultados: Uma parte correspondente a 17,90% das mulheres não realizou o VDRL. Na análise multivariada, apresentaram maior chance de não realizar o VDRL as mulheres que: enfrentaram dificuldades para realizar o exame; realizaram a última consulta antes do último trimestre da gravidez; passaram por menos de seis consultas; realizaram pré-natal em unidade que não realizava agendamento das consultas subsequentes; tinham 19 anos ou menos de idade; tinham três ou mais gravidezes. Conclusão: Os resultados mostram que, apesar da elevada cobertura da atenção pré-natal, persiste uma baixa efetividade das ações de prevenção da sífilis congênita.

According to the norms issued by the Ministry of Health for the Prenatal and Birth Humanization Program, pregnant women should undergo two tests for syphilis detection. Objective: To evaluate missed opportunities for screening gestational syphilis and to identify factors associated with the missing application of the Venereal Disease Research Laboratory (VDRL) test during prenatal development. Methods: This cross-sectional study was undertaken in the maternity ward of a Unified Public Health System (SUS) hospital in the city of Recife in northeastern Brazil. We studied 460 women admitted for termination of pregnancy and/or abortion, between September and October 2013, who had at least one prenatal consultation. We conducted interviews and checked patients' prenatal care records and medical records. Women who did not take at least one VDRL test during prenatal development (reference category) were compared with those who did. Logistic regression was performed on the data collected from the 408 pregnancy records analyzed in order to identify factors associated with a failure to undergo syphilis screening. Results: 17.90% of the women in the sample did not take the VDRL test. In multivariate analysis, women who fit the following factors presented a greater chance of not having taken the VDRL test: facing difficulties in taking the test; attendance of the last prenatal consultation before the last trimester of pregnancy; attending less than six consultations; receiving prenatal care in hospital units which did not schedule subsequent exams; being 19 years of age or younger; having had three or more pregnancies. Conclusion: Results show that despite the high availability of prenatal care, actions aimed at preventing congenital syphilis still present low effectiveness.

[Compliance with current standards for the early detection of neonatal hearing loss]. / Cumplimiento de la normatividad vigente para la detección temprana de la hipoacusia neonatal.

OBJECTIVE: Assessing compliance with the section "Assessment of hearing" stipulated in the Technical Standard to Detect Alteration in children aged less than 10 years-old in Bogota. METHODS: This was a cross-sectional study which involved reviewing the medical records of all children born between July 1st and December 31st 2010 in two healthcare institutions in Bogota. Records were selected in which any of the following risk factors appeared: neonatal hyperbilirubinaemia involving phototherapy, neonatal exposure to ototoxic substances and/or <1.500 gr low birth weight. It was also ascertained whether children had been referred to an auditory evoked potential test as the prescribed screening test for neonatal hearing, as stipulated in mandatory Colombian technical standards for detecting abnormal growth and developmental in children aged less than ten years-old. RESULTS: Neither of the two institutions was making the aforementioned referral test. DISCUSSION: The results indicated significant difficulties in adherence to the protocol for the early detection of hearing loss regarding pertinent/current neonatal Colombian regulations.

Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.

OBJECTIVE: Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. SUBJECTS AND METHODS: Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. RESULTS: The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. CONCLUSIONS: The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

Intervalos de referencia para tirotropina sérica durante los primeros 14 días de vida / Reference intervals for serum thyrotropin during the first 14 days of life

Introducción. La detección precoz del hipotiroidismo congénito evita la morbilidad física con retardo mental. En un esfuerzo para incrementarla especificidad del programa de pesquisa, nuestro objetivo fue definir intervalos de referencia para tirotropina sérica en recién nacidos (RN) de entre 2 y 14 días de vida.Población y métodos. Todos los recién nacidos (RN) de la pesquisa neonatal entre los años 2001 y 2007. Se determinó tirotropina sérica por electroquimioluminiscencia.Se excluyeron: niños con hipotiroidismo congénito confirmado, los fallecidos antes del mes, los menores de 1500 g,las muestras de otra institución, con TSH < 0,01 μU/ml y las tomadas con más de 14 días de vida.Herramientas estadísticas: pruebas t de Student, medidas de centralidad y dispersión, y transformacioneslogarítmicas.Resultados. Población estudiada: 6772 RN (total 7869), el 50,48 por ciento fueron varones. La relación varón/ mujer fue similar durante los 14 días. La edad promedio al testeo fue 5,85 días (más sobre menos 2,58) en el 75 por ciento de los RN, mientras que para TSH la media fue 4,42 μU/ml (más sobre menos 4,17). Se encontró relación inversa entre edad y TSH (día 2 una media de 5,82 μU/ml y al día 14 de 2,58 μU/ml).Conclusión. Se encuentra evidencia estadística de relación negativa entre TSH y edad del RN. Los intervalos de referencia desarrollados para TSH contribuyen a una mejor evaluacióndel estado tiroideo en el RN y ayudan a definir una conducta terapéutica individual apropiada.(AU)

Retinopathy of prematurity as a major cause of severe visual impairment and blindness in children in schools for the blind in Guadalajara city, Mexico.

AIM: To determine the causes of blindness in students attending schools for the blind in Guadalajara city, Mexico and to assess the availability of screening for retinopathy of prematurity (ROP) in local neonatal intensive care units. METHODS: Information on causes of blindness was obtained by interview with parents and teachers, review of records and examination. Causes of visual loss in children with a distance visual acuity of <6/60 (ie, severely visually impaired or blind) were determined and classified according to the WHO's classification system for children. RESULTS: Of 153 children in the two participating schools, 144 were severely visual impaired or blind. Their ages ranged from 4 months to 15 years and 58% were female. ROP was the most common cause of visual loss (34.7%), followed by optic nerve lesions (17.4%) and glaucoma (14.6%). 25/59 (42.3%) children aged 0-4 years were blind from ROP compared with 6/32 (18.8%) children aged 10-15 years. 78% of children blind from ROP had psychomotor delay and less than half (46%) had not received treatment for ROP. All five privately funded neonatal intensive care units in the city regularly screen for ROP compared with only four of the 12 units in the public sector. CONCLUSIONS: ROP is the leading cause of blindness in children in Mexico despite national guidelines being in place. Health policies promoting primary prevention through improved neonatal care need to be implemented. Advocacy is required so that the time ophthalmologists spend screening and treating ROP is included in their job description and hence salaried.

[Neonatal screening by tandem mass spectrometry: an update]. / Tamizaje neonatal por espectrometría de masas en tándem: actualización.

Tandem mass spectrometry (MS/MS) has made it possible to expand neonatal screening programs in different countries. This technology permits multiple and rapid diagnosis of diverse inborn errors of metabolism. However, its use in different programs around the world currently varies widely. There are different criteria for determining whether to include a specific disease in such programs, with some cases employing a more restrictive approach than others, based on the traditional screening principles enunciated by Wilson and Jungner, which will have to be reevaluated in light of this new technology. This article presents an update on the use of MS/MS in different regions of the world in terms of the diseases screened for, and the criteria for including new health problems in neonatal screening programs.

Mortality of children with sickle cell disease: a population study.

OBJECTIVE: To describe the deaths of children with sickle cell disease (SCD) in Minas Gerais, Brazil, and followed up at the Fundação Hemominas. METHODS: Cohort of children diagnosed by the Neonatal Screening Program in Minas Gerais (March/1998 - February/2005). Deaths were identified by searching for children who did not attend scheduled consultations at hemocenters. Clinical and epidemiological data were abstracted from death certificates, the newborn screening database, individual medical records, and from interviews with families. RESULTS: During the period, 1,833,030 newborns were screened; 1,396 had SCD (1:1,300). There were 78 deaths: 63 with SS genotype, 12 with SC genotype, and three with Sbeta+thalassemia genotype. Fifty-six children (71.8%) died before 2 years of age; 59 died in hospitals and 18 at home or during transportation. Causes of death according to certificates (n = 78): infections, 38.5%; acute splenic sequestration, 16.6%; other causes, 9%; did not receive medical care, 15.4%; and not identified on certificates, 20.5%. According to interviews (n = 52) acute splenic sequestration was responsible for one third of deaths, in contrast with 14% recorded on death certificates. Survival probabilities at 5y (SEM) for children with SS, SC, and Sbeta+thalassemia were 89.4 (1.4), 97.7 (0.7), and 94.7% (3.0), respectively (SS vs. SC, p < 0.0001). CONCLUSIONS: Even with a carefully controlled newborn screening program, the probability of SS children dying was still found to be high. Causes not identified on death certificates may indicate difficulties recognizing SCD and its complications. Educational campaigns directed at health professionals and SCD patients' families should be boosted in order to decrease SCD mortality.

[Effectiveness study of the universal newborn hearing screening]. / Estudo da efetividade de um programa de triagem auditiva neonatal universal.

This article discusses the insufficiency of family participation in a program of Universal Newborn Hearing Screening. As it is a premature detection of hearing alterations, with the possibility of reduction of damages caused by these, it becomes essential the family participation during all the diagnosis process. The aim of the text is to understand the absence of the mothers of infants born between May 2002 and June 2004 at Center of Integral Attention to the Health of the Woman (Unicamp) when returning to a second hearing evaluation. Through the characterization of social-demographic profiles of the mothers, some aspects were related to the non-returning at the screener service and three mothers were selected to interview. It was concluded that three traces from the mother's profiles are detached among mothers who returned less times: to have more than one child; to have frequency of only one to three prenatal consultations; and not having a partner. The basic allegation for the nonreturning was that the loss of hearing could be identified through observation at home. Besides being constituted by social factors, the absences of the mothers reflect cultural practices. It was considered necessary the creation of a net of health services that guide the mothers of infants about alterations in the infantile development.

La importancia de una ley a tiempo: Presentación de un caso de deficiencia de biotinidasa no diagnosticado por pesquisa neonatal / The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening

En agosto de 2008, la Provincia de Buenos Aires no había adherido a la Ley Nacional 26279, que establece la obligatoriedad de la pesquisa neonatal para la deficiencia de biotinidasa, entre otras enfermedades. En esa fecha, nace en la Provinciade Buenos Aires una niña que derivan desde una terapia intensiva pediátrica al Hospital Nacional de Pediatría Dr. Prof. J. P. Garrahan, a los 58 días de vida, por alteración del sensorio, acidosis metabólica, hiperlacticoacidemia, alopecia, conjuntivitis y erupción cutánea eritematosa escaldada. Por estaclínica (de 13 días de evolución) se mide la actividad plasmática de biotinidasa, que resultó baja. Se inicia tratamiento con biotina y revierten rápidamente las alteraciones bioquímicas que presentaba. Si se hubiera hecho la pesquisa neonatal, estaniña no hubiera estado expuesta a riesgo de muerte por la enfermedad y se hubiese asegurado (por el inicio presintomático del tratamiento), un desarrollo normal, ya que las lesiones neurológicas no siempre retrogradan o no lo hacen ad integrum.(AU)

Comparación del estado clínico-funcional en niños con fibrosis quística detectados por pesquisa neonatal o por síntomas clínicos / Comparing the clinical-functional state in children with cystic fibrosis detected by neonatal screening or by clinical symptoms

Introducción. La pesquisa neonatal para fibrosis quística (FQ) ha demostrado que en los pacientes diagnosticados y tratados precozmente se asocia con mejores resultados clínicos y funcionales. Objetivo. Comparar el estado clínico-funcional en niños con FQ detectados por pesquisa neonatalo por síntomas clínicos. Población, material y métodos. Estudio transversal. Se compararon dos grupos apareados por edad, sexo y genotipo. Un grupo detectado por pesquisa neonatal (Grupo P) y otro por síntomas (Grupo S), confirmados con prueba del sudor. Se evaluaron: edades al diagnóstico y al ingreso al centro, puntaje z peso/edad (z P/E) en la primer visita y z de índice de masa corporal (z IMC) y de talla/edad (z T/E) al último control, puntaje de Shwachman-Brasfield (S/B), volumen espiratorio forzado en el 1er segundo (VEF1), primer aislamiento de Pseudomonas aeruginosa (Pa) y número de hospitalizaciones. Resultados. De 250 pacientes en seguimiento, se incluyeron 21 pacientes en cada grupo. La edad (media) de ambos fue 4,4 años. La edad al diagnóstico fue más temprana en el grupo P que en el grupo S (p= 0,002, IC 95 por ciento: -1,11/-0,32). El z P/E diagnóstico, z IMC, z T/E, puntaje S/B y VEF1 fueron mejores en el grupo P (p< 0,001; 0,3; 0,01; 0,02; 0,1 respectivamente). La edad promedio del primer aislamiento de Pa y la media de hospitalizaciones fue menor en el grupo P (p= 0,34,IC95 por ciento: -1,45/0,51, p= 0,04, IC95 por ciento: -3,16/-0,07; respectivamente). Conclusiones. Los niños con FQ detectados a través de programas de pesquisa neonatal presentan un mejor estado clínico y funcional.(AU)

Introduction. Newborn Screening for Cystic Fibrosis(CF) has demonstrated better clinical and functional results in patients diagnosed and treated prematurely. Objective. To compare clinical and functional state in children with CF detected by newborn screening or by symptoms. Patients and methods. Cross-sectional study. We compared two groups paired by age, sex and genotype. A group detected by newborn screening (Group N) and other by symptoms (Group S), both confirmed with sweat test. We evaluated: age at diagnosis and enter to the center, z score weight/age (z W/A) at first visit and z score for body mass index (BMI) and height/age (z H/A) in last control, score of Shwachman-Brasfield (S/B), forced expiratory volume in one second (FEV1), first isolation of Pseudomonas aeruginosa (Pa) and number of hospitalizations. Results. We included 21 patients in each of the groups from an universe of 250 patients treated in our center. The mean of both groups was 4.4 years. The age at diagnosis was lower in the group N than in the group S (p= 0.002, IC95 por ciento:-1.11/-0.32); z W/A at diagnosis; z IMC; z H/A, score S/B and FEV1 were better in group N (p< 0.001, 0.3, 0.01, 0.02, 0.1, respectively). The average age of first isolation of Pa and the average of hospitalizations was lower in group N (p= 0.34, IC95 por ciento: -1.45/0.51, p= 0.04, IC95 por ciento: -3.16/-0.07). Conclusions. Children with CF detected by neonatal screening programs had better clinical and functional outcome.(AU)

Hiperplasia suprarrenal congénita perdedora de sal en varones durante el período neonatal. ¿Es posible adelantarse a la emergencia metabólica? / Congenital adrenal hyperplasia salt-wasting form in males during the neonatal period. Can we anticipate to metabolic emergency?

La hiperplasia suprarrenal congénita se produce por deficiencia de una de las cinco enzimas necesarias para la síntesis de cortisol por la cortezasuprarrenal. En más del 90 por ciento de los casos la enzima afectada es la 21-hidroxilasa. De estos, el 75 por ciento tiene deficiencia de aldosterona con pérdida de sal y crisis metabólica con riesgo para la vida. Los varones enfermos no presentan signosaparentes en los genitales externos y se detectan al producirse la crisis adrenal. Describimos la devastadora presentación clínica perdedorade sal en dos varones afectados, en el período sin pesquisa, y las ventajas de la detección por pesquisa, en una niña que presentó la forma virilizante simple.(AU)

Policy issues for expanding newborn screening programs: the cystic fibrosis newborn screening experience in the United States.

OBJECTIVE: To describe the screening approaches and implementation strategies for cystic fibrosis newborn screening in the 12 programs that were offered in 11 states in 2002. STUDY DESIGN: Telephone interviews conducted in the spring of 2003 with program representatives in the 11 states. Screening approaches were defined in four overlapping categories: state mandated screening, state-wide offering, hospital based screening, and screening with informed consent. RESULTS: Screening was state mandated in seven states but was routinely offered to most infants in nine states. The primary care provider or hospital determined if screening was done in three states (four programs). Informed consent was explicitly documented in two states. In five programs, immunoreactive trypsinogen exclusively was used to identify at-risk infants. In seven programs, a second tier DNA test was also used, but these programs each had distinct strategies. In only two programs where DNA testing was performed and normal sweat tests indicated carrier status, were results routinely provided to parents "in person" at a CF center. CONCLUSION: The diversity of approaches for screening approaches and strategies has advantages for future policy decisions, provided that data about the clinical and psychosocial impact of screening from these programs are collected and disseminated. As additional states determine that the resources are available, programs can be designed with a more favorable benefit/risk balance as a result of the successes and challenges faced by other states.

Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study.

OBJECTIVES: Life-threatening clinical complications can occur in the first years of life in people with homozygous sickle cell disease. There is consensus that a clinical care programme comanaged by a specialist clinic should follow early-life disease identification. In a setting without widespread neonatal screening for this disease, we predict the percentage of affected births that enrol in specialist clinics during childhood, and the percentage that enrol early enough to benefit from penicillin prophylaxis (which is offered until five years of age). SETTING: A retrospective study of enrolment between 1973 and 1999 at three clinics in Jamaica, the country's only referral centres for sickle cell disease. RESULTS: Among enrolees not screened at birth, observed enrolment by age five was 10.1% (95% confidence interval [CI] 5.7-16.7%) among 1974 births, which is predicted to rise to 35.7% (95% CI 35.0-36.4%) among 1999 births. Observed enrolment by 18 years of age was 45.9% (95% CI 35.7-58.2%) among 1974 births, which is predicted to peak at 61.9% (95% CI 60.5-63.2%) among 1984 births, and fall to 48.9% (95% CI 40.9-56.9%) among 1999 births. Median age at enrolment was 10.5 years (95% CI 10.0-11.3). CONCLUSIONS: Based on 1999 estimates, almost 65% of children affected by homozygous sickle cell disease not identified at birth will not benefit from important early-life clinical intervention, and half will not enrol for specialised care by their 18th birthday. Among patients that enrol, half do so in adolescence when management is less focused on preventive care.

Does early discharge with nurse home visits affect adequacy of newborn metabolic screening?

OBJECTIVE: To examine the impact of early discharge on newborn metabolic screening. STUDY DESIGN: Metabolic screening results were obtained from the Alabama State Lab for all infants born at our hospital between 8/1/97, and 1/31/99, and were matched with an existing database of early discharge infants. An early newborn discharge was defined as a discharge between 24 and 47 hours of age. Metabolic screening tests included phenylketonuria (PKU), hypothyroidism, and congenital adrenal hyperplasia (CAH). Early discharge and traditional stay infants were compared to determine the percentage of newborns screened and the timing of the first adequate specimen. RESULTS: The state laboratory received specimens from 3860 infants; 1324 were on early discharge newborns and 2536 infants in the traditional stay group. At least one filter paper test (PKU, hypothyroidism, and CAH) was collected on 99.2% of early discharge infants and 96.0% of traditional stay infants (P<.0001). Early discharge infants had a higher rate of initial filter paper specimens being inadequate (22.9%) compared with traditional stay infants (14.3%, P<.0001) but had a higher rate of repeat specimens when the initial specimen was inadequate (85.0% early discharge vs 75.3% traditional stay, P=.002). The early discharge group was more likely to have an adequate specimen within the first 9 days of life (1001, 98.8% early discharge vs 2016, 96.7% traditional stay, P=.0005). CONCLUSIONS: In this well established early discharge program with nurse home visits, newborn metabolic screening is not compromised by early discharge.

Infant hearing loss: the necessity for early identification.

There has been controversy in the health professions about the necessity for newborn infant hearing screening. It is well accepted that patient history or a birth that places the infant in the high-risk registry (HHR) can identify 50% of all infants born with permanent bilateral hearing loss. Two major factors which have been cited as reasons for not screening the well-baby nursery have been poor cost effectiveness and the lack of documentation as to the benefits derived from early identification and intervention. Recent technological developments and published data are presented which indicate that economical well-baby hearing screening can be done in any setting, and that the language acquisition of the infant is permanently affected if the intervention is not done in the first six months after birth.

A comprehensive screening program in South Brazil.

We present the experience and figures about a screening program in South Brazil carried on in Porto Alegre, capital of the Southern Brazilian State. We present the tests performed routinely in our laboratory, the prevalence of some diseases and tests for infectious diseases to be added in the most comprehensive regional program in our country.