RESUMO
OBJECTIVE: In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease. SUBJECTS AND METHODS: Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol. The participants had psychological evaluations before testing and 1 week after being informed of the result. RESULTS: The average age of the participants in the presymptomatic testing for SCA2 was 39.3 years, 62% were female. The main reasons for taking the test were family planning and risk assessment in their children. Family participation in the process was high and there were several additional sources of social support. Before the test, the subjects did not present high levels of anxiety or depression. On informing the patients of the test results indicators for anxiety and depression significantly decreased, and there were no significant differences according to whether the test result had been positive or negative. Catastrophic events were rare during the first week after the test. CONCLUSIONS: The results indicate a strong interest in presymptomatic diagnosis among individuals at risk for SCA2 in Holguín and a lack of significant psychological drawbacks up to 1 week after information of results.
Assuntos
Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Adaptação Psicológica , Adulto , Progressão da Doença , Emoções , Feminino , Aconselhamento Genético , Humanos , Consentimento Livre e Esclarecido , Entrevistas como Assunto , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Motivação , Equipe de Assistência ao Paciente , Projetos Piloto , Testes Psicológicos , Fatores Socioeconômicos , Ataxias Espinocerebelares/psicologia , Repetições de TrinucleotídeosRESUMO
Folic acid (5 mg) was given daily, for not less than one menstrual period before conception and until the tenth week of pregnancy, to 81 women (FS) with a history of a previous neural tube defect (NTD) birth. There was no NTD recurrence among this group or among the offspring of a further 20 women (PS) whose folic acid supplementation fell short of the full regime. In another 114 women who became pregnant without folic acid supplementation (US), there were four NTD recurrences (3.5 per cent). Our results suggest that folic acid supplementation might be an effective method of primary prevention of neural tube defects.
Assuntos
Ácido Fólico/uso terapêutico , Defeitos do Tubo Neural/prevenção & controle , Gravidez , Administração Oral , Feminino , Ácido Fólico/administração & dosagem , Humanos , Resultado da GravidezRESUMO
Prenatal screening was carried out in Havana City, Cuba, as part of a National Medical Genetics Programme, in order to detect elevated alpha-fetoprotein concentration in maternal serum (MS-AFP). A total of 97,900 pregnant women between 15 and 19 weeks of pregnancy were tested from 1982 to 1985. A double-antibody-sandwich technique was used. 173 malformed fetuses were detected. Confirmation was by ultrasonography, elevated AFP values in a second serum sample and in amniotic fluid and acetylcholinesterase. No termination of a normal pregnancy occurred. The screening of all pregnancies is easy, economical and useful for detecting not only fetuses suffering from open Neural Tube Defects (NTDs) and other severe disorders but also pregnancies at risk of further complications.
Assuntos
Defeitos do Tubo Neural/diagnóstico , Diagnóstico Pré-Natal , alfa-Fetoproteínas/sangue , Acetilcolinesterase/metabolismo , Cuba , Feminino , Humanos , Técnicas Imunoenzimáticas , Programas Nacionais de Saúde , Defeitos do Tubo Neural/enzimologia , Defeitos do Tubo Neural/epidemiologia , Gravidez , UltrassonografiaRESUMO
An evaluation was made of all cases of neural tube defects born in seven gynaecological hospitals and obstetric centres of Havana, between 1970 and 1980. Neural tube defects were recordable from 492 infants out of 319,228 births. The families concerned were briefed in human genetics and informed about the possibility of prenatal diagnosis of anencephaly and bifid spine (spina bifida aperta). Some of them had a record of this defect. Amniocentesis was applied to 30 women with an empirical risk of 1:20, and alphafoetoprotein was analysed in their amniotic fluid. Anencephaly was diagnosed in one case and confirmed by termination of pregnancy. The occurrence of neural tube defects usually is of spontaneous nature, and incidence is relatively high. Therefore efforts are now being made to introduce a scheme of prenatal screening based on alphafoetoprotein assessment in the serum of pregnant women.