Genetic screening: ethical issues - Nuffield Council on Bioethics

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26 3.43 Women with epilepsy requiring treatment with drugs are usually offered expert fetal anomaly scanning by ultrasound in the second trimester of pregnancy because of the increased risk of congenital malformation caused by some drugs. 3.44 It is standard practice in the UK to undertake carrier <strong>screening</strong> for haemoglobin disorders of individuals in antenatal clinics (and increasingly in primary care) who are “not of Northern European origin”. Historically the tests used to be part of routine blood investigations, undertaken to detect clinical conditions such as sickle cell disorders. In the process carriers of haemoglobin disorders were identified, but the women were not always informed either that they had undergone a form of genetic <strong>screening</strong> or of the result. Women found to be carriers are now told by a variety of staff including obstetricians, midwives, haematologists and, increasingly, haemoglobinopathy counsellors (usually nurses and health visitors who have undertaken specialist training). 3.45 Most couples at risk of having children with a major thalassaemia, and about 50% of those at risk of sickle cell disease, request diagnostic tests on the fetus and decide on abortion if the results show the fetus is affected. Screening and counselling may therefore lead to a great reduction in births of affected children, but the emotional costs of the decision to terminate should not be ignored (see paragraph 3.32). 3.46 It is likely that by the time this report is published, some pilot <strong>screening</strong> programmes may have been extended into more general use and others will be being evaluated. The table opposite summarises current (September 1993) genetic <strong>screening</strong> programmes in the UK.
27 CURRENT GENETIC SCREENING PROGRAMMES IN THE UK (September 1993) It is likely that by the time this report is published, some pilot <strong>screening</strong> programmes will have extended into more general use and others will be being evaluated. The following table summarises current genetic <strong>screening</strong> programmes in the UK. Age Group Disease Population screened Type of Confirmation Other <strong>screening</strong> test required comments Neonatal Phenylketonuria All newborn infants Indirect Yes Hypothyroidism All newborn infants Indirect Yes Sickle cell disease All newborn in some areas; confined to certain ethnic Indirect Yes Also detects groups in others carriers Cystic fibrosis Some areas only (still at Indirect Yes pilot stage) Duchenne muscular Pilot studies Indirect Yes dystrophy Other rare metabolic Family testing Usually indirect – disorders Later childhood NONE IN THE UK Pre-marital and Cystic fibrosis Pilot projects in general Direct No Detects 85 – 90% pre-pregnancy practice of carriers During pregnancy Rhesus haemolytic All mothers Indirect disease Fetuses have Diabetes mellitus All mothers Indirect expert fetal anomaly scanning Yes Congenital Most fetuses Routine fetal anomaly malformations ultrasound ultrasound Down’s syndrome 1) All mothers in some Serum <strong>screening</strong> Amniocentesis areas tests with chromosome tests on fetus required for confirmation 2) All mothers over Chromosome No 35–37 tests on fetus Neural tube defects (spina bifida and All mothers in many areas Indirect Fetal anomaly anencephaly) ultrasound Haemoglobin All mothers not of North Indirect Detects carriers disorders European origin Cystic fibrosis Pilot studies Direct No Detects 85 - 90% of carriers
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counsellors) in particular among th
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10.20 We recommend that the Departm
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