Assuntos
Aconselhamento Genético , Diagnóstico Pré-Natal , Talassemia/diagnóstico , Aborto Terapêutico , Adolescente , Adulto , Chipre/etnologia , Saúde da Família , Feminino , Morte Fetal , Humanos , Masculino , Gravidez , Risco , Fatores Socioeconômicos , Talassemia/genética , Talassemia/cirurgia , Reino UnidoRESUMO
The results are described of 200 antenatal diagnostic tests for haemoglobinopathies performed on samples of fetal blood obtained during the second trimester of pregnancy. Haemoglobin A synthesis in the fetus was measured by incorporation of tritiated leucine in vitro and separation of the globin chains on CM23 columns. The range of HbA synthesis detected was 3.5-8.0% in normal fetuses, 2.0-5.0% in fetuses with thalassaemia trait, and less than 1.6% in fetuses with thalassaemia major. There were eight cases in which other haemoglobinopathies were diagnosed. 29% of the pregnancies were terminated because thalassaemia major was diagnosed, and 9.5% of the remaining healthy fetuses were lost for obstetric reasons. Follow up has been possible for 96% of the 124 surviving babies and three misdiagnoses have come to light; one false positive (0.5%) and two false negatives (1%). These figures represent a first effort at antenatal diagnosis for haemoglobinopathies and it is likely that they will improve with the passage of time.
Assuntos
Sangue Fetal/metabolismo , Hemoglobina A/biossíntese , Diagnóstico Pré-Natal , Talassemia/diagnóstico , Cromatografia por Troca Iônica , Erros de Diagnóstico , Feminino , Seguimentos , Humanos , Gravidez , Segundo Trimestre da Gravidez , Reino UnidoRESUMO
In order to gain understanding of some of the problems of genetic counseling for a severe recessive disease in England, a Greek Cypriot extended family including 87 living members and known to be transmitting a beta-thalassaemia gene was investigated for the extent and the sources of their knowledge about thalassaemia. 42% of members tested carried beta-thalassaemia trait: nearly half were already aware of this, but only 10% of the non-carriers were aware of their status. The study illustrated many of the difficulties in conveying accurate counselling to a whole community and the need for active involvement of all health workers, especially general practitioners. This study is also relevant to the approaching possibility of genetic counseling for cystic fibrosis.
Assuntos
Aconselhamento Genético , Modelos Genéticos , Talassemia/prevenção & controle , Chipre/etnologia , Inglaterra , Feminino , Genes Recessivos , Educação em Saúde , Heterozigoto , Homozigoto , Humanos , Masculino , Linhagem , Talassemia/epidemiologia , Talassemia/genéticaRESUMO
The antenatal search for fetal beta-thalassaemia in a twin pregnancy is described. Thalassaemia major was correctly excluded in both fetuses, and some of the problems of identifying patients at risk are outlined as well as those of obtaining fetal blood in the second trimester of pregnancy.
