RESUMEN
Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.
Asunto(s)
Aborto Habitual/genética , Factor V/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Longitud del Fragmento de Restricción , Protrombina/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Humanos , EmbarazoRESUMEN
OBJECTIVE: To describe the main perinatal and 1-year outcomes in babies with a prenatal ultrasonographic diagnosis of severe hydrocephalus according to the presence or absence of a neural tube defect (NTD) in a country where abortion is illegal. METHOD: The study population consisted of cases referred to and delivered at Hospital de Clínicas de Porto Alegre, diagnosed between January 1993 and December 2001. The diagnosis of severe hydrocephalus was based on a lateral ventricular atrium diameter > or =15 mm in at least one hemisphere. RESULTS: Sixty cases were ascertained: 28 with NTD (group 1) and 32 without NTD (group 2). The groups were similar in terms of maternal and child variables at birth and hospitalization days during the 1st year of life. The mortality (including intrauterine deaths and deaths of babies with malformations incompatible with life that characterize a very poor prognosis) until 1 year of age was 36% in group 1 and 59% in group 2 (p = 0.077). The rate of cardiac malformations was higher in the group without NTD (p = 0.015). The length of hospital stay after birth (1st admission) was significantly higher in the group with NTD (p = 0.007). CONCLUSIONS: The morbidity was higher in the group with NTD, possibly due to the higher number of surgical interventions in the central nervous system. However, the mortality was higher in the group without NTD, possibly due to the presence of other associated malformations, especially congenital heart disease. Further studies should focus on neurological function and quality of life of the children and their families at the end of the 1st year and after 2 or 6 years of age.
Asunto(s)
Enfermedades Fetales/diagnóstico , Hidrocefalia/complicaciones , Hidrocefalia/diagnóstico , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/diagnóstico , Femenino , Enfermedades Fetales/epidemiología , Estudios de Seguimiento , Humanos , Hidrocefalia/epidemiología , Lactante , Recién Nacido , Defectos del Tubo Neural/epidemiología , Embarazo , Estudios RetrospectivosRESUMEN
The objective of the present study was to evaluate and quantify fetal risks involved in the administration of cancer chemotherapy during gestation, as well as to assess the long-term effects on the exposed children. In this retrospective, cohort study, we reviewed the records of women aged 15 to 45 years with a diagnosis of malignancy or benign tumors with malignant behavior at three reference services in the State of Rio Grande do Sul, Brazil, from 1990 to 1997. All patients with a diagnosis of pregnancy at any time during the course of the disease were selected, regardless of whether or not they received specific medication. Fetal outcomes of 14 pregnancies with chemotherapy exposure were compared to that of 15 control pregnancies in which these drugs were not used. Long-term follow-up of the exposed children was carried out. Fisher's exact test was used to compare the groups. Continuous variables were compared by the Wilcoxon-Mann-Whitney test. We found an increased rate of prematurity (6/8 vs 2/10; RR: 3.75; CI: 1.02-13.8; P = 0.03) in the exposed group. There was a trend to an increased fetal death rate (4/12 vs 0/10; P = 0.07) in the group exposed to chemotherapy. No malformations were detected in any child, which can be related to our small sample size as well as to the fact that most exposures occurred after the first trimester of pregnancy. Other larger, controlled studies are needed to establish the actual risk related to cancer chemotherapy during pregnancy
Asunto(s)
Humanos , Femenino , Embarazo , Recién Nacido , Adolescente , Adulto , Persona de Mediana Edad , Antineoplásicos , Muerte Fetal , Trabajo de Parto Prematuro , Complicaciones Neoplásicas del Embarazo , Anomalías Inducidas por Medicamentos , Aborto Espontáneo , Puntaje de Apgar , Estudios de Cohortes , Estudios de Seguimiento , Edad Gestacional , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Objetivo. Definir uma curva de normalidade dos valores de alfafetoproteína (AFP) no líquido amniótico em gestantes entre 14 e 21 semanas de gravidez no Hospital de Clínicas de Porto Alegre. Materiais e Métodos. Nas 137 mulheres que procuraram o diagnóstico pré-natal e tiveram indicaçao de coleta de líquido amniótico. A alfafetroproteína foi dosada em todas as amostras por enzima imunoensaio. Foram selecionadas 109 gestaçoes normais (sem malformaçoes, cariótipo normal, nao-gemelares) e cujas amostras de líquido amniótico nao eram sanguinolentas. Essas foram divididas quanto à idade gestacional e tiveram calculadas as medianas dos valores de AFP e seus múltiplos. Resultados. As medianas da alfafetoproteína (KUI/ml) para cada idade gestacional foram as seguintes: 14 semanas: 16,32; 15 semanas: 14,36; 16 semanas: 13,43; 17 semanas: 10,93; 18 semanas: 8,22; 19 semanas: 7,35; 20 semanas: 5,62; 21 semanas: 4,47. Conclusao. O estabelecimento de uma curva normal de AFP em nosso serviço permite a utilizaçao deste exame para pacientes em risco de defeitos de fechamento de tubo neural. Permite também que sejam analisadas amostras enviadas para estudos citogenéticos ou metabólicos de maneira a identificar fetos com níveis elevados de AFP que necessitarao de estudos ultrasonográficos mais detalhados pela possibilidade de defeitos morfológicos.