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.

Neonatal screening program for G6PD deficiency in India: Need and feasibility.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder affecting approximately 400 million people worldwide. In India, 390,000 children are born annually with this disorder causing significant morbidity and mortality in childhood. A National Neonatal Screening program for presumptive screening of all neonates using modified Formazan ring test method could be introduced. The test requires blood sample obtained using simple heel prick in the first 48 hours of life, and can be carried out using basic laboratory equipment and reagents. The screening program could be introduced in all institutional deliveries at tertiary hospitals in the major metropolitan cities and then gradually scaled up to cover institutional deliveries over the entire country. After field trials, the program can be expanded to cover home deliveries as well. Increased funding for the health sector under the National Rural Health Mission can provide the required financial support to the program.

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.

Newborn screening for PKU and congenital hypothyroidism in Latvia.

The newborn screening program in Latvia was started in 1980 as pilot study project. Mass screening for phenylketonuria (PKU) in the whole republic was started in 1987, but for congenital hypothyroidism (CH) it begun in 1996. Last two years the Latvian State Medical Genetics Center (SMGC) screened nearly 25,000 newborn dried blood specimens per year. Approximately 25% are repeat and control specimens. Efficiency of the screening program is nearly 97%. Fluorometric method is used for PKU screening, followed by amino acid analysis (HPLC) and analysis of DNA samples for mutations of the PAH gene. Most of the 51 Latvian PKU patients detected from 1980 to 1998 were selected by neonatal screening (38), while the others (13) were diagnosed during genetic counseling. The incidence of PKU in Latvia is 1:8,700 births. CH screening is based on measurement of thyroid stimulating hormone (TSH), using fluoroimmunoassay method, with cut-off value 10 mlU/l, as the primary screening test, and T3 and T4, as confirmatory tests for diagnosis. From 38,684 newborns 37,380 were screened for CH in 1996 and 1997. From these 1,438 (3.8%) newborns were recalled because of initial elevation of TSH level. From these 85 (0.2%) newborns had elevated TSH level during first two weeks of life and were referred to SMGC for repeat testing and follow-up. The diagnosis of CH has been confirmed in 6 babies. The incidence of CH in Latvia is about 1:6,450.

Prevención de los defectos congénitos y trastornos genéticos. Diagnóstico prenatal de defectos congénitos: prevención secundaria y terciaria / Prevention of the congenital defects and genetic disorders. Prenatal diagnosis of congenital defects: secondary and terciary prevention

Los defectos congénitos constituyen en la actualidad una de las principales causas de morbimortalidad perinatal. Esto es debido a la disminución de la mortalidad infantil asociada a infecciones y desnutrición. Una de cada cinco muertes en el primer año de vida en los Estados Unidos de Norteamérica son atribuibles a los defectos congénitos. De persistir la disminución en la mortalidad, tal como se observa en la mayoría de los países de América Latina, los defectos congénitos se convertirán en prioridad en el área de la salud. El diagnóstico prenatal ha incrementado el interés tanto en la comunidad médica como en la sociedad en su conjunto sobre los defectos congénitos. La identificación de factores de riesgo genéticos y ambientales son esenciales para la prevención primaria y secundaria de los mismos y está íntimamente relacionada con el diagnóstico y tratamiento prenatal. Los programas de vigilancia epidemiológica de los defectos congénitos pueden ser utilizados para evaluar la efectividad y eficacia de las acciones de prevención, programas de tamizaje, diagnóstico y tratamiento prenatal.

Alfafetoproteína en suero materno para la detección de embarazos de alto riesgo / Maternal serum alphafetoprotein in the detection of high risk pregnancies

Objetivo: Evaluar la utilidad de la determinación de alfafetoproteína en suero materno (AFPSM) durante el segundo trimestre de la gestación, para identificar embarazos con riesgo aumentado para una gran variedad de padecimientos fetales y de la gestación, especialmente defectos de cierre del tubo neural y de la pared abdominal. Material y Métodos: Se estudiaron 120 mujeres embarazadas a quienes se les practicó una determinación de AFPSM durante el segundo trimestre de la gestación y se investigó la posible relación entre los niveles encontrados y la resolución del embarazo. Resultados: De las 15 pacientes con FPSM elevada, dos tuvieron un hijo con malformaciones congénitas, (trisomía 18 con mielomeningocele y otro con onfalocele). De las dos pacientes con AFPSM baja, una correspondió a un huevo muerto retenido. Respecto a otra patología obstétrica y/o fetal, no se encontraron diferencias significativas entre el grupo de AFPSM normal y anormal. Conclusión: La AFPSM fue útil en la detección de defectos de cierre del tubo neural y de pared abdominal, pero los resultados no son concluyentes para la detección de patología obstétrica

Examen de tamiz neonatal para el diagnóstico de hipotiroidismo congénito: experiencia en el Instituto Nacional de Perinatología / Neonatal screening for diagnosis of congenital hypothyroidism: experience in the Instituto Nacional de Perinatología

Introducción. La finalidad del examen de tamiz neonatal es la detección precoz de las alteraciones congénitas del metabolismo que ocasionan retraso mental; de ellas la más común es el hipotiroidismo congénito (HTC). El objetivo de estudio fue conocer la incidencia del HTC detectado por tamiz neonatal en el Instituto Nacional de Perinatología. Material y métodos. Se revisaron los casos corroborados de HTC en el período de 1990 a 1993, que fueron identificados a través del programa de tamiz neonatal del Instituto. Resultados. En el período de estudio se tamizaron 13,510 recién nacidos (RN), se detectaron 10 casos de HTC, lo que proporcionó una incidencia de 1 caso por cada 1,428 niños tamizados. Se tamizó en promedio el 74.4 por ciento del total de RN vivos. Conclusiones. La incidencia de HTC fue superior a otros estudios realizados en México. Es necesario incrementar la capacitación de RN en el programa de tamiz neonatal