Prenatal diagnosis and genetic screening : community and service implications / a report of the Royal College of Physicians.

  • Royal College of Physicians of London.
Date:
1989
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Prenatal diagnosis and genetic screening : community and service implications / a report of the Royal College of Physicians. Source: Wellcome Collection.

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    1. A correct diagnosis of the propositus (the family member presenting with the disorder, if there is one). 2. Estimation of genetic risk. This requires preparation of a family tree and laboratory and other investigations, often of other family members. 3. Communication of genetic risks and the options for avoiding them. a The nature and prognosis of the disorder involved, and treatment available, b The chances of an affected infant in each pregnancy and the reasons for the risk given, c Possible ways to avoid the birth of an affected child: techniques, problems, risk of error or complications. Methods for termination of pregnancy. 4. Assisting the person or couple to assimilate and evaluate this information and reach a decision appropriate for themselves. 5. Accessibility for long-term contact: women or couples at risk need counselling and support during and after every pregnancy. 5.6 The genetic counsellor must be a good communicator, prepared to share professional knowledge fully and on an equal footing, and able to simplify complex and unfamiliar concepts in the presence of serious anxiety and sometimes even of disagreement between partners. Time and a calm atmosphere are essential for people to consider and to ask all the questions they want to, in order to reach a satisfactory decision. Time costs money, but in view of the profound consequences for the family and the expensive technology involved in prenatal diagnosis, it is illogical, and may do more harm than good, to embark on testing unless adequate time can be set aside for satisfactory genetic counselling. 5.7 Clinical geneticists and specialists in particular areas such as the haemoglobin disorders already work with associated counsellors. These counsellors, some with a nursing and others with a non-medical training, are selected for their suitability in assisting with the less specialised area of counselling. There is an urgent need to decide on the definition of associated genetic counsellors, and to develop a recog nised training and career structure. In North America, ‘genetics associates’ already have a qualifying examination, job-description and career structure. In the UK, an Association of Genetics Nurses and Social Workers has recently been founded, with the objective of addressing some of these issues. Genetic counselling 5.8 No study reported to date has shown that genetic counselling alters marriage and reproductive patterns. In Cyprus, where premarital screening for thalassaemia is mandatory, behaviour 98% of prospective couples who find they are both carriers still proceed to marry. 5.9 However, there is plenty of evidence that genetic counselling affects repro ductive behaviour. For instance, among couples counselled when prenatal diagnosis is not available, more than half those at high (more than 10%) risk of producing a child with a serious abnormality and up to one-third of those at lower risk (2-10%) stop reproducing [43, 46]. Before prenatal diagnosis was available, couples at risk for thalassaemia behaved in the same way, but now 98% of at-risk couples who are offered prenatal diagnosis use it to achieve a healthy family [33]. 5.10 Prenatal diagnosis is the approach chosen by most informed couples at risk for severe genetic disease. Divorce is not a common solution, and artificial insemination by donor is not popular.