RESUMO
PURPOSE: To evaluate the association between central nervous system (CNS) malformations and the C677T-MTHFR mutation in fetal blood. METHODS: A case-control study was conducted to compare the MTHFR-C677T mutation detected in 78 fetuses with CNS malformations and with 100 morphologically normal fetuses. Genomic DNA was extracted and purified from fetal blood using the Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA) according to manufacturer's protocol. The polymerase chain reaction (PCR) was used to assay the thermolabile MTHFR-C677T mutation. The γ² and the Fisher's exact tests were used for descriptive analysis and the Wilcoxon test was used for univariate analysis. Logistic regression analysis was performed to identify which variables were predictors of CNS malformation. RESULTS: Cases and controls were similar regarding maternal characteristics such as age and number of deliveries and abortions. The MTHFR-C677T mutation was detected in 20 cases (25.6%) and in 6 controls in its heterozygous form (OR 10.3; 95%CI 3.3-32.2) and in 6 cases (7.7%) and in 1 control in its homozygous form (OR 12.3; 95%CI 1.3-111.1), and the differences were statistically significant. CONCLUSION: The presence of the MTHFR-C677T mutation in fetal blood was consistent with a higher risk of CNS malformations, both in the heterozygous and homozygous forms.
Assuntos
Sistema Nervoso Central/anormalidades , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mutação , Malformações do Sistema Nervoso/genética , Estudos de Casos e Controles , Feminino , Sangue Fetal , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/sangue , GravidezRESUMO
OBJETIVO: Avaliar a associação entre as malformações do sistema nervoso central (SNC) e a mutação C677T-MTHFR no sangue fetal. MÉTODOS: Foi realizado um estudo caso-controle que comparou a presença da mutação C677T-MTHFR entre 78 fetos com malformações de SNC e 100 fetos morfologicamente normais. O DNA genômico foi extraído e purificado do sangue fetal utilizando o Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA), de acordo com o protocolo do fabricante. A reação em cadeia da polimerase (PCR, na sigla em inglês) foi realizada para a detecção da mutação C677T-MTHFR termolábil. A análise estatística descritiva foi realizada usando o teste exato de Fisher e o γ² e o teste de Wilcoxon foi utilizado para a análise univariada. Uma análise de regressão logística foi realizada para identificar as variáveis preditoras de malformações do SNC fetal. RESULTADOS: Os casos e controles foram similares quanto às características maternas, incluindo idade e paridade. A mutação C677T-MTHFR foi detectada em 20 casos (25,6%) e em 6 controles na forma heterozigota (OR 10,3; IC95% 3,3-32,2) e em 6 casos (7,7%) e em 1 controle na forma homozigota (OR 12,3; IC95% 1,3-111,1), e essas diferenças foram estatisticamente significativas. CONCLUSÃO: A presença da mutação C677T-MTHFR no sangue fetal foi consistente com maior risco de malformações de SNC, tanto na forma heterozigota quando homozigota.
PURPOSE: To evaluate the association between central nervous system (CNS) malformations and the C677T-MTHFR mutation in fetal blood. METHODS: A case-control study was conducted to compare the MTHFR-C677T mutation detected in 78 fetuses with CNS malformations and with 100 morphologically normal fetuses. Genomic DNA was extracted and purified from fetal blood using the Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA) according to manufacturer's protocol. The polymerase chain reaction (PCR) was used to assay the thermolabile MTHFR-C677T mutation. The γ² and the Fisher's exact tests were used for descriptive analysis and the Wilcoxon test was used for univariate analysis. Logistic regression analysis was performed to identify which variables were predictors of CNS malformation. RESULTS: Cases and controls were similar regarding maternal characteristics such as age and number of deliveries and abortions. The MTHFR-C677T mutation was detected in 20 cases (25.6%) and in 6 controls in its heterozygous form (OR 10.3; 95%CI 3.3-32.2) and in 6 cases (7.7%) and in 1 control in its homozygous form (OR 12.3; 95%CI 1.3-111.1), and the differences were statistically significant. CONCLUSION: The presence of the MTHFR-C677T mutation in fetal blood was consistent with a higher risk of CNS malformations, both in the heterozygous and homozygous forms.
Assuntos
Feminino , Humanos , Gravidez , Sistema Nervoso Central/anormalidades , Mutação , /genética , Malformações do Sistema Nervoso/genética , Estudos de Casos e Controles , Sangue Fetal , /sangueRESUMO
OBJECTIVE: To evaluate the demographic characteristics of cases with body stalk anomaly (BSA) and describe the obstetric outcome. METHOD: Retrospective review of a case series of BSA diagnosed from 2000 to 2010. RESULTS: Among the 21 cases, mean gestational age at diagnosis was 22 weeks (range 11-35 weeks). Ten cases elected termination of pregnancy, which was performed at a median gestational age of 24 weeks. One termination of pregnancy at 33 weeks' gestation in a woman with late diagnosis of BSA and a previous uterine scar, required cesarean section during labor because of clinical signs of uterine rupture. Of the remaining 11 cases, four were lost to follow-up, three delivered vaginally, three underwent elective cesarean sections, and one underwent cesarean section because of obstructed labor. Six of seven cases were growth restricted and six of seven were small for gestational age. There were no abnormal karyotypes among the nine cases which underwent cytogenetic studies. CONCLUSION: Continuation of pregnancy in the presence of BSA is associated with greater maternal risks, in the form of labor complications requiring cesarean section. This information should be discussed with couples at the time of diagnosis.
Assuntos
Parede Abdominal/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Feto/anormalidades , Resultado da Gravidez/epidemiologia , Adolescente , Adulto , Cesárea/estatística & dados numéricos , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Complicações do Trabalho de Parto/diagnóstico , Complicações do Trabalho de Parto/epidemiologia , Complicações do Trabalho de Parto/etiologia , Gravidez , Prognóstico , Estudos Retrospectivos , Ruptura Uterina/epidemiologia , Ruptura Uterina/etiologia , Adulto JovemRESUMO
PURPOSE: To evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: Karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: Approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. CONCLUSIONS: There was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Assuntos
Cariótipo Anormal , Aborto Espontâneo/genética , Cromossomos/genética , Infertilidade/genética , Polimorfismo Genético , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Adulto JovemRESUMO
OBJETIVO: avaliar a prevalência de alterações citogenéticas e polimorfismos cromossômicos em casais com fenótipo de subfertilidade em uma população brasileira. MÉTODOS: foram avaliados 1.236 cariótipos de casais com fenótipo de subfertilidade de dois diferentes centros (público e privado). Esses pacientes foram classificados em dois subgrupos: um com duas ou mais perdas gestacionais, consecutivas ou não, e outro com, ao menos, uma perda gestacional ou ausência de concepção. Os cariótipos foram obtidos com bandamento convencional G e C. As anomalias citogenéticas foram agrupadas e as frequências calculadas segundo a classificação dos pacientes. Quando aplicável, os testes estatísticos de Fisher e análise de Odds Ratio foram empregados. RESULTADOS: aproximadamente 25 por cento de todos os casos apresentaram cariótipo anormal, incluindo alterações numéricas e estruturais e também variantes polimórficas. Nos dois diferentes centros, a prevalência de variantes polimórficas diferiu, sendo de 8,9 e 3,8 por cento, respectivamente. CONCLUSÃO: não houve diferença significativa entre a predominância de variantes polimórficas e outras alterações nos indivíduos com ou sem história de perda reprodutiva. Os resultados do presente estudo reforçam a necessidade da adequada divulgação da informação citogenética completa nos resultados de cariótipo, com atenção específica em relação às variantes polimórficas.
PURPOSE: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: approximately 25 percent of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8 percent, respectively. CONCLUSIONS: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Aborto Habitual , Fertilidade , Polimorfismo GenéticoRESUMO
INTRODUCTION: Maternal-fetal alloimmune thrombocytopenia complicates about 0.1% of all pregnancies and is associated with major fetal and neonatal morbidity and mortality, especially spontaneous central nervous system bleeding leading to death and neurological handicaps. Successful prevention and treatment depend on the identification of at-risk possible carriers of anti-platelet antibodies. CASE REPORT: We report a case of a mother with a previous child that developed neonatal hemorrhage; HPA-5b anti-platelet antibodies were detected post-natally. During the next pregnancy, fetal genotyping confirmed the presence of HPA-5b antigen; she was treated with weekly intravenous human immunoglobulin and oral prednisone. Pregnancy evolved without remarkable features and a full-term baby was delivered, with normal platelet counts. CONCLUSION: Fetal alloimmune thrombocytopenia is a potentially lethal condition, but early detection and prevention lead to successful outcome in most cases.
Assuntos
Antígenos de Plaquetas Humanas/imunologia , Isoantígenos/imunologia , Trombocitopenia/imunologia , Antígenos de Plaquetas Humanas/genética , Feminino , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Recém-Nascido , Masculino , Prednisona/administração & dosagem , Gravidez , Trombocitopenia/diagnóstico por imagem , Trombocitopenia/genética , Trombocitopenia/prevenção & controle , Ultrassonografia Pré-NatalRESUMO
CONTEXT AND OBJECTIVE: Previous adverse pregnancy outcomes (recurrent spontaneous abortion, fetal death, preterm birth or early neonatal death) can affect the quality of life of pregnant women. The objective of this study was to compare the quality of life and the prevalence of symptoms of anxiety and depression among pregnant women with and without these antecedents. DESIGN AND SETTING: An analytical cross-sectional study was performed in four settings (two high-risk and two low-risk prenatal clinics) in the city of Campinas, São Paulo, Brazil. METHODS: A total of 240 women were interviewed by a single investigator between the 18th and 24th weeks of gestation: 120 women with prior adverse pregnancy outcomes (group 1) and 120 women with no such history (group 2), matched according to their numbers of living children. Sociodemographic variables were collected and two questionnaires were used: the Short Form-36 quality-of-life questionnaire and the Depression and Anxiety Scale. RESULTS: The women in group 1 had lower scores in all the items on the quality-of-life questionnaire. Depression and anxiety were more frequent in group 1 (P < 0.0001). An inverse correlation was found between the Short Form-36 domains and anxiety and depression. CONCLUSIONS: Women with histories of recurrent spontaneous abortion, fetal death, preterm birth or early neonatal death seem to have poorer quality of life and more symptoms of anxiety and depression during their subsequent pregnancy, compared with those without such antecedents.
Assuntos
Ansiedade/epidemiologia , Depressão/epidemiologia , Acontecimentos que Mudam a Vida , Resultado da Gravidez/psicologia , Qualidade de Vida , Aborto Espontâneo/psicologia , Adulto , Brasil/epidemiologia , Métodos Epidemiológicos , Feminino , Morte Fetal , Humanos , Gravidez , Nascimento Prematuro/psicologia , Fatores SocioeconômicosRESUMO
CONTEXT AND OBJECTIVE: Previous adverse pregnancy outcomes (recurrent spontaneous abortion, fetal death, preterm birth or early neonatal death) can affect the quality of life of pregnant women. The objective of this study was to compare the quality of life and the prevalence of symptoms of anxiety and depression among pregnant women with and without these antecedents. DESIGN AND SETTING: An analytical cross-sectional study was performed in four settings (two high-risk and two low-risk prenatal clinics) in the city of Campinas, São Paulo, Brazil. METHODS: A total of 240 women were interviewed by a single investigator between the 18th and 24th weeks of gestation: 120 women with prior adverse pregnancy outcomes (group 1) and 120 women with no such history (group 2), matched according to their numbers of living children. Sociodemographic variables were collected and two questionnaires were used: the Short Form-36 quality-of-life questionnaire and the Depression and Anxiety Scale. RESULTS: The women in group 1 had lower scores in all the items on the quality-of-life questionnaire. Depression and anxiety were more frequent in group 1 (P < 0.0001). An inverse correlation was found between the Short Form-36 domains and anxiety and depression. CONCLUSIONS: Women with histories of recurrent spontaneous abortion, fetal death, preterm birth or early neonatal death seem to have poorer quality of life and more symptoms of anxiety and depression during their subsequent pregnancy, compared with those without such antecedents.
CONTEXTO E OBJETIVO: O antecedente de resultados gestacionais adversos (aborto espontâneo recorrente, óbito fetal, prematuridade ou óbito neonatal precoce) pode afetar a qualidade de vida das gestantes. O objetivo deste estudo foi comparar a qualidade de vida e a prevalência de sintomas de ansiedade e depressão em gestantes com e sem estes antecedentes. TIPO DE ESTUDO E LOCAL: Um estudo transversal analítico foi realizado em quatro locais (duas clínicas de pré-natal de alto risco e duas de pré-natal de baixo risco), na cidade de Campinas, São Paulo, Brasil. MÉTODOS: Duzentas e quarenta mulheres foram entrevistadas por um único investigador entre 18 e 24 semanas de gestação: 120 tinham antecedentes gestacionais adversos (grupo 1) e 120 não tinham tal história (grupo 2), pareadas por número de filhos vivos. Variáveis sócio-demográficas foram coletadas e dois questionários foram usados: o de qualidade de vida (Questionário Short Form-36) e a Escala de Depressão e Ansiedade. RESULTADOS: As mulheres do grupo 1 obtiveram escores mais baixos em todos os itens do questionário de qualidade de vida. Depressão e ansiedade foram mais frequentes no grupo 1 (P < 0,0001). Foi encontrada uma correlação inversa entre os domínios do Short Form-36 e ansiedade e depressão. CONCLUSÕES: Mulheres com antecedente de aborto espontâneo recorrente, óbito fetal, prematuridade ou óbito neonatal precoce parecem ter pior qualidade de vida e mais sintomas de ansiedade e depressão durante a gestação subsequente quando comparadas com mulheres sem esses antecedentes.
Assuntos
Adulto , Feminino , Humanos , Gravidez , Ansiedade/epidemiologia , Depressão/epidemiologia , Acontecimentos que Mudam a Vida , Resultado da Gravidez/psicologia , Qualidade de Vida , Aborto Espontâneo/psicologia , Brasil/epidemiologia , Métodos Epidemiológicos , Morte Fetal , Nascimento Prematuro/psicologia , Fatores SocioeconômicosRESUMO
INTRODUÇÃO: A trissomia do cromossomo 21 é o distúrbio cromossômico mais frequente em recém-nascidos, responsável por grande parcela dos retardamentos mentais moderados. Apesar de tão frequente, os mecanismos celulares e moleculares envolvidos na não-disjunção meiótica são ainda desconhecidos. Dentre as possíveis causas que podem interferir nessa não-disjunção, tem-se especulado a participação da ingesta de ácido fólico e mutações de genes codificadores das enzimas envolvidas no seu metabolismo. Entre essas enzimas está a 5,10metilenatetraidrofolato redutase (MTHFR), fundamental na metilação do DNA. OBJETIVO: verificar se existe diferença estatisticamente significante na porcentagem de mutação da MTHFR nas posições 677 e 1298 entre mulheres com filhos cromossomicamente normais e nas com filhos portadores da trissomia do cromossomo 21. MATERIAL E MÉTODOS: realizou-se um estudo do tipo caso-controle em 70 mulheres com filhos portadores da trissomia do cromossomo 21 e 88 controles com filhos cromossomicamente normais e sem abortamentos. Estudamos a porcentagem de mutação de ponta C677T e A1298C do gene codificador da MTHFR nesses dois grupos. O risco oferecido par cada variável avaliada foi obtido através de uma estimativa de odds ratio, acompanhada por seu respectivo Intervalo de confiança (IC 95%). Modelos de regressão logística serviram para medir o efeito das variáveis de controle nestes odds ratio. RESULTADOS: A presença de heterozigose conjunta (677 e 1298) foi estatísticamente maior entre as casos (OR de 5,7). CONCLUSÕES: a presença de heterozigose conjunta no gene codificador da MTHFR levou a um maior risco de ocorrência da trissomia do cromossomo 21.