Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.

OBJECTIVE: To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. MATERIALS AND METHODS: Traditional screening tests were performed using a combination of biochemical markers and ultrasound measurements in the first and second trimesters to assess the risk of trisomies 21 (T21), 18 (T18) and 13 (T13). Cell-free DNA (cf-DNA) testing was offered (Harmony test) to pregnant women at high risk (>1/280 for T21 and > 1/150 for T13 and T18) and a normal early morphology scan. In positive cases, prenatal sampling was strongly recommended to confirm the results by gold standard methods (QF-PCR and karyotyping). Newborns' phenotypes were corroborated after birth in all cases. RESULTS: In this prospective study, 8153 pregnant women were enrolled, resulting in 390 at high risk according to traditional screening tests. cfDNA testing was offered to 383 women. Traditional screening tests showed a false negative rate of 9.68% for T21. Traditional test sensitivity for T21 was 90.3%, for a false positive rate of 4.17% and a positive predictive value of 7.6%. The positive and negative predictive value for cfDNA testing was 100%. The approach used avoided invasive procedures in 91.3% of women at high risk. The prevalence of chromosomal abnormalities in the population analyzed was 1 in 164, and 1 in 210 for T21. CONCLUSIONS: Our results show that offering cf-DNA testing to women at high risk in traditional tests (including those with risks >1 in 50) significantly reduces false positives and, therefore, the number of invasive tests. Extending the use of cf-DNA testing to intermediate risk categories may be cost effective.

Revisión bibliográfica sobre la serología sistemática del embarazo normal / Systematic review of serology in normal pregnancy

La prevención de la infección congénita y perinatal es un problema de salud pública que afecta a todo el mundo y que ha dado lugar a la implantación de programas de control en los distintos países. Entre las acciones concretas de control se encuentran los estudios serológicos, que son procedimientos no invasivos que proporcionan información suficiente para adoptar acciones preventivas o terapéuticas y que han demostrado su eficacia en la asistencia preconcepcional y prenatal en la mujer. En esta revisión se expone la evidencia de por qué son unos determinados microorganismos y no otros los que se estudian sistemáticamente, y su finalidad es repasar y actualizar cuáles son las pruebas serológicas que debe realizarse la mujer gestante y en qué momento ha de hacerlo

The prevention of congenital and perinatal infection is a public health problem that affects everyone and that has led to the implementation of control programs in different countries. Among the specific control actions are serological studies that are noninvasive procedures that provide sufficient information to take preventive or therapeutic actions and that have proven effective in preconceptional and prenatal care for women. This review presents the scientific evidence because they are certain miroorganisms and not others that are studied systematically, and its purpose is to review and update on what time and what are the serological tests to be carried out in pregnant women

Paciente con blefaritis crónica resistente a los tratamientos oftalmológicos habituales / Resistance to routine ophthalmological treatments in a patient with chronic blepharitis

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Reconhecendo a sobrecarga e a qualidade de vida de cuidadores familiares de idosos frágeis / Recognizing burden and quality of life of family caregivers of frail elderly

OBJETIVOS: Analisar as correlações entre o grau de dependência funcional de idosos residentes na comunidade, o nível de sobrecarga relacionada ao cuidado e a percepção de qualidade de vida dos cuidadores familiares desses idosos. MÉTODOS: Estudo observacional, descritivo e analítico, com amostragem não probabilística selecionada por conveniência entre dezembro de 2008 e maio de 2009 na área urbana de Curitiba e Colombo, estado do Paraná. As entrevistas foram aplicadas aos cuidadores, empregando-se: inquérito sociodemográfico; avaliação funcional do idoso; avaliação da sobrecarga (Zarit-Burden-Interview) e qualidade de vida (WHOQOL-Bref). Utilizaram-se os coeficientes de Spearman, de Mann-Whitney e Kruskal Wallis para avaliar as correlações entre as escalas e destas com variáveis sociodemográficas. Análise bivariada identificou quais variáveis se correlacionariam à sobrecarga, incluídas as significativas em modelo de regressão linear múltipla. RESULTADOS: Foram entrevistados 45 cuidadores, predominando mulheres (91,11%) com elevada escolaridade, assistindo idosos funcionalmente dependentes (66,77%). Percebeu-se sobrecarga moderada/severa em 75,55% da amostra. Observou-se correlação entre dependência funcional e maior sobrecarga no cuidador (r=-0,281, p=0,013) e pior percepção de qualidade de vida. A regressão linear múltipla identificou forte associação entre sobrecarga relacionada ao cuidado e o domínio psicológico do WHOQOL-bref e o tempo como cuidador (R²=0,58, p<0,001). CONCLUSÃO: Em amostra de cuidadores familiares, foram identificadas correlações significativas entre menor nível de sobrecarga relacionada ao cuidado e melhores percepções de qualidade de vida, bem como associação entre maior grau de dependência do idoso assistido e maior sobrecarga e qualidade de vida menos satisfatórias.

OBJECTIVE: This study aimed to analyze the correlation between the levels of functional dependence of elderly living in the community, the burden related to care and the perception of quality of life in familiar caregivers. METHODS: This is an observational, descriptive and analytical study, using non probabilistic sampling selected by convenience in the period from December 2008 to May 2009, in the urban area of Curitiba and Colombo, state of Paraná, Brazil. Interviews were applied to caregivers, using demographic inquiry, functional evaluation of the aged, burden interview (Zarit-Burden-Interview) and quality of life instrument (WHOQOL-Bref). Spearman, Mann-Whitney and Kruskal Wallis coefficients were used to analyze the correlations between instruments and socio-demographic variables. Bivariate analyses identified which variables correlate with burden, and the most significant were included in a multiple linear regression. RESULTS: Forty-five caregivers were interviewed, mostly women (91.11%) with high educational level attending dependent elderly (66.77%). Moderate/severe burden was perceived in 75.55% of the sample. We found correlation between dependence, more severe burden in caregivers (r=-0.281, p=0.013) and worse perception of quality of life. The multiple linear regression identified strong association between burden related to care and psychological domain from WHOQOL-bref and time as caregiver (R²=0.58, p<0.001). CONCLUSION: In a sample of familiar caregivers, we identified correlations between lower burden related to care and better quality of life perceptions, as well as higher disability and less satisfactory quality of life perceptions.