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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    WHO-sponsored recommendations for screening for haemoglobin disorders The basic screen for haemoglobinopathy disorders 1. Red cell indices If the MCH is < 25pg, measure the Hb A 2 For the thalassaemias 2. Haemoglobin electrophoresis For abnormal haemoglobins (includes raised Hb F) 3. Sickle solubility test Specific for Hb S Requirements for a haemoglobin disorder screening programme The requirements for a screening programme for haemoglobin disorder summarised by a WHO expert group [32] and given below, are generally applicable for community genetics services. The requirements for screening for cystic fibrosis will be almost identical. i ‘Special centres for haemoglobin disorders’ should be recognised. They should include specially trained ethnic counsellors. ii Adequate clinical and laboratory facilities should be available for patient management, carrier and prenatal diagnosis, and neonatal diagnosis when indicated. iii All people in risk groups should be informed about the haemoglobin disorders, the existence of risk, the desirability of testing and the possibility of avoiding serious consequences. iv They should be provided with easy access to testing. v Testing should be reliable, the laboratory involved participating in a quality-control system. vi Whether the test result is positive or negative, everyone tested should be issued with a card giving the result and the address of the testing centre. The result, whether positive or negative, should be recorded in a conspicuous place in the person’s primary health care records. vii All carriers should have the result and its meaning explained to them. They should be provided with an information booklet, 1 2 and given the address of a specialist counselling service or support organisation for further help or advice. viii Information and screening during pregnancy is the absolute minimum that should be provided. Wherever screening is routine, a poster 3 should be conspicuously displayed to inform patients of the existence of risk and the fact that testing will be offered, or is routinely carried out. ix Carrier identification and counselling (of single heterozygotes) should, as far as possible, be done prior to pregnancy by the primary health care team. x Information should be provided for primary health care workers such as general practitioners, health visitors, family planning doctors, midwives and nurses, through their training curriculum, meetings and written guidelines. xi Where consanguineous marriage is common, health-workers need information on its genetic implications in order to avoid giving harmful misinformation to families. 1 Cards may be obtained from . . . They should be issued only from the laboratory making the test, and answerable for its interpretation and accuracy. 2 Counselling booklets for people who carry thalassaemia trait are available from the UK Thalassaemia Society, and for carriers of sickle-cell trait, from the Sickle Cell Society. ' Posters alerting people in the appropriate ethnic groups to the existence of the haemoglobin- opathies, suitable for display in antenatal or other NHS clinics, are available from Bloomsbury Health Education Unit, Elizabeth Garrett Anderson Hospital, 144 Euston Rd, London NW1.