Maternal thyroid profile in first and second trimester of pregnancy is correlated with gestational diabetes mellitus through machine learning.

There is evidence about a possible relationship between thyroid abnormalities and gestational diabetes mellitus (GDM). However, there is still no conclusive data on this dependence, since no strong correlation has been proved. In this work, we used machine learning to determine whether there is a correlation between maternal thyroid profile in first and second trimester of pregnancy and GDM. Using principal component analysis, it was possible to find an evident correlation between both, which could be used as a complement for a more sensitive GDM diagnosis.

Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy?

OBJECTIVE: Determine cost differences between cell-free DNA (cfDNA) and serum integrated screening (INT) in obese women given the limitations of aneuploidy screening in this population. METHODS: Using a decision-analytic model, we estimated the cost-effectiveness of trisomy 21 screening in class III obese women using cfDNA compared with INT. Primary outcomes of the model were cost, number of unnecessary invasive tests, procedure-related fetal losses, and missed cases of trisomy 21. RESULTS: In base case, the mean cost of cfDNA was $498 greater than INT ($1399 vs $901). cfDNA resulted in lower probabilities of unnecessary invasive testing (2.9% vs 3.5%), procedure-related loss (0.015% vs 0.019%), and missed cases of T21 (0.00013% vs 0.02%). cfDNA cost $87 485 per unnecessary invasive test avoided, $11 million per procedure-related fetal loss avoided, and $2.2 million per missed case of T21 avoided. In sensitivity analysis, when the probability of insufficient fetal fraction is assumed to be >25%, cfDNA is both costlier than INT and results in more unnecessary invasive testing (a dominated strategy). CONCLUSION: When the probability of insufficient fetal fraction more than 25% (a maternal weight of ≥300 lbs), cfDNA is costlier and results in more unnecessary invasive testing than INT.

Seroprevalence of HIV, HTLV, CMV, HBV and rubella virus infections in pregnant adolescents who received care in the city of Belém, Pará, Northern Brazil.

BACKGROUND: Prenatal tests are important for prevention of vertical transmission of various infectious agents. The objective of this study was to describe the prevalence of human immunodeficiency virus (HIV), human T-lymphotropic virus (HTLV), hepatitis B virus (HBV), cytomegalovirus (CMV), rubella virus and vaccination coverage against HBV in pregnant adolescents who received care in the city of Belém, Pará, Brazil. METHODS: A cross-sectional study was performed with 324 pregnant adolescents from 2009 to 2010. After the interview and blood collection, the patients were screened for antibodies and/or antigens against HIV-1/2, HTLV-1/2, CMV, rubella virus and HBV. The epidemiological variables were demonstrated using descriptive statistics with the G, χ2 and Fisher exact tests. RESULTS: The mean age of the participants was 15.8 years, and the majority (65.4%) had less than 6 years of education. The mean age at first intercourse was 14.4 years, and 60.8% reported having a partner aged between 12 and 14 years. The prevalence of HIV infection was 0.3%, and of HTLV infection was 0.6%. Regarding HBV, 0.6% of the participants had acute infection, 9.9% had a previous infection, 16.7% had vaccine immunity and 72.8% were susceptible to infection. The presence of anti-HBs was greater in adolescent between 12 and 14 years old (28.8%) while the anti-HBc was greater in adolescent between 15 and 18 years old (10.3%). Most of the adolescents presented the IgG antibody to CMV (96.3%) and rubella (92.3%). None of the participants had acute rubella infection, and 2.2% had anti-CMV IgM. CONCLUSIONS: This study is the first report of the seroepidemiology of infectious agents in a population of pregnant adolescents in the Northern region of Brazil. Most of the adolescents had low levels of education, were susceptible to HBV infection and had IgG antibodies to CMV and rubella virus. The prevalence of HBV, HIV and HTLV was similar to that reported in other regions of Brazil. However, the presence of these agents in this younger population reinforces the need for good prenatal follow-up and more comprehensive vaccination campaigns against HBV due to the large number of women susceptible to the virus.

Management of syphilis in pregnant womenand their newborns: is it still a problem? / Manejo de sífilis em gestantes e seus recém-nascidos: ainda um problema?

A sífilis congênita (SC) é um agravo prevenível, mas o Brasil ainda apresenta alta prevalência da doença, com consequente morbimortalidade perinatal. Objetivo: Avaliar a abordagem de sífilis em gestantes e seus recém-nascidos encaminhados para centro de referência. Métodos: Estudo transversal, de março de 2012 a abril de 2013. A coleta de dados foi realizada em prontuários de pacientes referenciados com SC, considerando critérios estabelecidos pelo Ministério da Saúde (MS). Os dados foram analisados pelo Statistical Package for the Social Sciences (SPSS) e o estudo foi aprovado pelo Comitê de Ética. Resultados: Um total de 31 recém-nascidos foi encaminhado devido à triagem materna com Venereal Disease Research Laboratory(VDRL) materno positivo durante a gestação, com 4 mulheres adequadamente tratadas. Treze recém-nascidos apresentaram alteração no hemograma e1 apresentou alteração óssea, 28 deles com tratamento adequado. Discussão: Quando se considera adequação de tratamento de acordo com as diretrizes nacionais, poucos casos de sífilis na gestação são considerados adequadamente tratados. Isso impacta na assistência ao recém-nascido, que, muitas vezes,é submetido a propedêutica invasiva e tratamento extenso, embora na maioria das vezes seja assintomático. Conclusão: O seguimento das recomendações para o tratamento da sífilis na gestante tem sido, frequentemente, considerado inadequado, o que dificulta a eliminação da SC.

Congenital syphilis (CS) is a preventable disease, but its prevalence is still high in Brazil, with consequent perinatal morbidity and mortality.Objective: To evaluate the approach of syphilis in pregnant women and their newborns referred to the referral center of Orestes Diniz, in Belo Horizonte.Methods: A cross-sectional study was carried out from March 2012 to April 2013. Data collection was performed on the medical records of patients referred with CS, considering the criteria established by the Ministry of Health. Data were analyzed using SPSS and the study was approved by the Ethics Committee. Results: A total of 31 newborns were referred due to a positive result in maternal testing with Venereal Disease Research Laboratory during pregnancy. However, only four women have been adequately treated in accordance with the Ministry of Health. Thirteen newborns presented alterations inblood cells count, one had bone rarefactions, and 28 presented proper information of treatment. Discussion: When considering the adequacy of treatmenta ccording to the national guidelines, few cases of syphilis during pregnancy can be considered adequately treated. This affects the assistance to the newborn,who is often subjected to invasive investigation and extensive treatment, although most are asymptomatic. Conclusion: The follow-up of recommendations for the treatment of syphilis in pregnant women has often been considered inadequate, making CS difficult to eliminate

Revisão sistemática dos métodos sorológicos utilizados em gestantes nos programas de triagem diagnóstica pré-natal da toxoplasmose / Systematic review of serological methods used in prenatal screening of toxoplasmosis in pregnant women

Informações sobre a melhor estratégia para triagem sorológica da toxoplasmose em gestantes são escassas e poucos estudos mencionam o uso de amostras de sangue capilar. Realizou-se uma revisão sistemática para pesquisar os métodos sorológicos empregados em programas de triagem pré-natal da toxoplasmose no mundo e as características principais destes programas, com busca nas bases de dados PUBMED e LILACS. Foram selecionados artigos referentes a programas de triagem sorológica pré-natal da toxoplasmose que descrevessem a amostra (sangue capilar ou soro) e o teste sorológico utilizado. Foram encontrados 1554 trabalhos no PUBMED e 242 na LILACS, sendo 58 em duplicata. Foram analisados 47 artigos finais. Os testes sorológicos de triagem citados com maior frequência foram os imunoenzimáticos para detecção de IgG (19 ou 40,4%) e IgM (18 ou 38,3%) e, entre os testes confirmatórios, o mais utilizado foi o teste de avidez de IgG (14 ou 29,8%). Todos os estudos analisados utilizaram amostras de soro para a triagem pré-natal da toxoplasmose.

The best strategy for toxoplasmosis serological screening in pregnant women is not completely defined and few studies mention the use of capillary blood samples. A systematic review of the literature was conducted to investigate the serological methods used in prenatal screening programs of toxoplasmosis in the world and the main features of these programs, with search in PubMed and LILACS databases. We selected articles that described their serological prenatal screening programs, with mention of the sample (capillary blood or serum) and of the serological tests used. We found 1554 articles in PubMed database and 242 articles in LILACS, with 58 duplicates. 47 final articles were analyzed. The serological screening tests most frequently cited were immunoassays for the detection of IgG (19, 40.4%) and IgM (18, 38.3%) and between confirmatory tests, the most used was IgG avidity test (14, 29.8%). All analyzed studies used serum samples for toxoplasmosis prenatal screening. There is need for studies assessing and testing different samples in longitudinal studies.

Incorporación del estudio de ADN fetal en sangre materna al cribado de cromosomopatías / Incorporation of the study of fetal DNA in maternal blood to the screening of chromosomal diseases

OBJETIVO: Evaluar la efectividad del cribado combinado de primer trimestre para la detección prenatal de aneuploidías tras 6 años de implantación en nuestro servicio y su repercusión en la disminución de pruebas diagnósticas invasivas. Se propone establecer un protocolo para incorporar el estudio de ADN fetal en sangre materna a partir de las revisiones bibliográficas publicadas. MÉTODO: Se evaluó el riesgo de anomalía cromosómica fetal en 3177 gestaciones mediante cribado combinado de primer trimestre entre enero de 2011 y diciembre de 2014. Se revisaron las amniocentesis realizadas desde que se instauró el cribado combinado en 2008 comparándolas con las de los 5 años anteriores. RESULTADOS: La tasa de detección del cribado para trisomía 21 fue del 94,4% y la tasa de falsos positivos de 6,4%. En el año 2005 estábamos realizando 194 amniocentesis, tras 6 años de implantación del cribado, en el año 2013 se realizaron 35 amniocentesis lo que implica una disminución del 70%. CONCLUSIONES: El cribado combinado de primer trimestre ha demostrado una mayor tasa de detección para trisomía 21 que el cribado de segundo trimestre y/o la edad materna, además de que ha llevado a una importante reducción en el número de pruebas invasivas. En los próximos años la incorporación del estudio de ADN fetal mejorará la detección de aneuploidías, con una drástica disminución de las pruebas invasivas por lo que se hace necesario la implantación de nuevos protocolos.

AIMS: To evaluate the effectiveness of first trimester combined screening in the prenatal detection of aneuploidy after 6 years of implantation in our service and its impact in reducing invasive diagnostic tests. It is proposed to establish a protocol to incorporate the study of fetal DNA in maternal blood from published literature reviews. METHODS: The risk of fetal chromosomal anomalies was assessed in 3177 pregnancies with first trimester combined screening between January 2009 and December 2014. The amniocenteses performed were checked against those of the previous 5 years. RESULTS: The detection rate of screening for trisomy 21 was 94.4% and the false-positive rate was 6.4%. In 2005 there were 194 amniocenteses. In 2013, 5 years after the introduction of screening, 68 amniocenteses were performed, representing a 70% reduction in invasive procedures. CONCLUSIONS: First trimester combined screening has shown a higher detection rate for trisomy 21 that the second trimester screening and/or maternal age, and has substantially reduced the use of invasive prenatal diagnostics procedures. In the coming years, the incorporation of the study of fetal DNA improve the detection of aneuploidys with a drastic reduction of invasive tests so that, the implementation of new protocols is necessary.

Rastreamento de aneuploidias no primeiro trimestre de gestação: evolução da idade materna à avaliação do DNA fetal livre no sangue materno / Screening for aneuploidies in the first trimester of pregnancy: evolution from maternal age to cell-free DNA testing in maternal blood

O rastreamento fetal de aneuploidia apresentou uma evolução fantástica a partir da avaliação individual da idade materna até os dias atuais, na qual evidências sugerem que o teste de avaliação do DNA fetal livre no sangue materno detecta mais de 99% dos casos de trissomia do cromossomo 21 e, aproximadamente, 98% dos casos de trissomia do 18 e 92%, do 13, com taxas de falso-positivo de 0,1; 0,1 e 0,3%, respectivamente. Recentemente, o grupo de trabalho em boas práticas médicas da Federação Internacional de Ginecologia e Obstetrícia recomendou que todas as gestantes, independentemente da idade, deveriam realizar uma avaliação de risco para aneuploidias por meio da translucência nucal, do teste combinado ou do teste de DNA fetal livre no sangue materno. O teste invasivo para diagnóstico de aneuploidia não deveria ser realizado considerando apenas a idade materna como fator de risco. O objetivo desta revisão foi apresentar esta nova ferramenta de rastreio, presente em muitos centros, e descrever as estratégias para implementação de tal tecnologia na prática clínica diária.(AU)

Screening for fetal aneuploidy has a tremendous evolution from maternal age to now where recent evidence suggests that cell-free DNA testing in maternal blood can detect more than 99% of cases of trisomy 21, about 98% of trisomy 18, and 92% of trisomy 13, with respective false-positive rates of 0.1, 0.1, and 0.3%. Recently, the working group on the best practice on maternal fetal medicine of the International Federation of Gynecology and Obstetrics has recommended as a good medical practice that pregnant women, regardless of maternal age, be offered prenatal assessment for aneuploidy through nuchal translucency, combined test, or cell-free DNA testing. The invasive procedure for diagnosis of aneuploidy should be avoided taking into account only the maternal age as a risk factor nowadays. The purpose of this review was to present this new screening tool available in most centers and to describe the strategies for implementation of this technology on the daily clinical practice.(AU)

Maternal serum hormonal factors in the pathogenesis of preeclampsia.

UNLABELLED: The etiology of preeclampsia (PE) remains unknown. There are many different etiopathogenetic theories that have been proposed. One theory is based on immunologic factors that may be regulated by hormones. The primary objective of the present study was to review the main hormones that may be involved in the PE pathophysiology. The current literature has suggested the involvement of many different hormonal systems in the pathogenesis of PE such as cortisol, renin-angiotensin-aldosterone system, arginine vasopressin, epinephrine and norepinephrine, natriuretic atrial peptide, brain natriuretic peptide, and melatonin. These findings suggest the complexity of the pathophysiology of PE, which involves many different hormonal systems. In conclusion, PE is a systemic disease with all of the aforementioned hormones being involved in the mechanism of systemic arterial hypertension. This consequently plays an important role in the circadian characteristics of the maternal blood pressure in PE. TARGET AUDIENCE: Obstetricians and gynecologists, family physicians. LEARNING OBJECTIVES: After completing this CME activity, physicians should be better able to understand the pathogenesis and pathophysiologicprocess involved in this disease, improve the treatment of the disease, educate medical students and residents with a better comprehension of the pathophysiologic process of the disease, stimulate new researches to establish the regulations of these hormones all together in the pathophysiologic process of preeclampsia, and develop new methods for screening and prevention preeclampsia based on maternal serum evaluations of hormonal levels.

Comparação da coleta das amostras de sangue na triagem pré-natal, utilizando o papel de filtro e punção venosana técnica de ELISA para detecção de sífilis / Comparison of the collection of blood samples in prenatal screening, using the filter paperand venipuncture technique ELISA for the detection of syphilis

A sífilis é uma doença infecciosa sistêmica, de evolução crônica e causada pelo Treponema pallidum, um espiroqueta de transmissão sexuale vertical, que pode produzir, respectivamente, as formas adquirida e congênita da doença. No Brasil, segundo o Ministério da Saúde (MS), embora a subnotificação de casos de sífilis seja alta, alguns dados disponíveis indicam a elevada magnitude deste problema infeccioso. Objetivo: comparar a coletadas amostras de sangue no papel de filtro (PF) e no plasma (padrão-ouro) na triagem pré-natal, utilizando anticorpos antitreponêmicos totais (IgG + IgM) no procedimento imunoquímico ELISA, registrado pelo Imunoscreen, da firma MBiolog. Métodos: foram estudadas 1.142 grávidas de quatro municípiosdo Estado de Rio de Janeiro: Itaboraí (N = 131), Itaguaí (N = 597), Niterói (N = 377) e São João de Meriti (N = 37) a partir do mês de novembro de 2008 até fevereiro de 2009. As grávidas foram submetidas a punção venosa e digital para a rotina da triagem pré-natal, sendo a última aplicada em PF. Foram calculados os limites de especificidade, sensibilidade e valores preditivos positivo e negativo para o estudo. Resultados: os resultados da sorologia parasífilis nas amostras do município de Itaboraí apresentaram ELISA positivo em 4,58%, os municípios de Itaguaí, Niterói e São João de Meriti mostraram positividade em 3,18%, 2,65% e 0%, respectivamente. Os procedimentos realizados tiveram uma sensibilidade e especificidade de 100% e os critérios preditivos positivos e negativos para todas as grávidas, estudados nas 1.142 amostras, foram de 100%. Conclusão: os resultados da sorologia para sífilis no sangue seco coletado em PF foram semelhantes aos da coleta por punção venosa, validando esta técnica.

Syphilis is a systemic disease of chronic evolution and caused by Treponema pallidum, a spirochete of sexual and vertical transmission,which can produce, respectively, the form of acquired and congenital disease. In Brazil, according to the Ministry of Health (MoH), although the underreporting of cases of congenital syphilis is high, some available data indicate the high magnitude of this problem that especially affects the weakness of pregnant women. Congenital syphilis causes great social impact, which results in deterioration of quality of life on a important stratum of the population,and indirect costs to the economy of the country, which, added to the direct costs resulting from hospitalizations and procedures for the treatment of its complications, increasing the total costs of care of public health. Objective: to compare the collection of blood samples on filter paper (FP) and plasma(gold standard) in prenatal screening, using anti-treponema total (IgG + IgM) in ELISA immunochemical. Methods: we studied 1,142 pregnant of the following cities: Itaboraí (N = 131), Itaguaí (N = 597), Niterói (N = 377) and St. João de Meriti (N = 37). Blood samples were collected from the finger and venipuncture of pregnant women in stations of collection of these counties, calculating elapsed time from sample collection to delivery of the report to thecouncil. We calculated the limits of sensitivity, specificity, positive predictive value and negative for the study. Results: Itaboraí showed positive ELISA in4.58%, in Itaguai, Niterói and St. João de Meriti showed, respectively, 3.18%, 2.65% and 0%. The procedures performed had a sensitivity and specificity of 100%, and the positive and negative predictive criteria for all pregnant women studied in 1,142 samples were 100%. All positive cases were reported to the Municipality within 10 days of sample collection. Conclusion: we conclude that the implementation of collection of dried blood on filter paper in pregnantwomen screening, was similar to that collected by venipuncture, validating this technology.