Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years
| Autor: | Bernadette Modell, Stephen Gibbons, K. H. Nicolaides, C. H. Rodeck, L. Varnavides, Mary Petrou, R. H. T. Ward, C Slater, John M. Old, A. Fitches, M. Layton |
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| Rok vydání: | 1997 |
| Předmět: |
Pediatrics
medicine.medical_specialty Asia Referral West Indies Ethnic group Prenatal diagnosis Health Services Accessibility Pregnancy Risk Factors Prenatal Diagnosis Epidemiology Medicine Humans Letters Referral and Consultation General Environmental Science Retrospective Studies business.industry Obstetrics Public health Genetic Carrier Screening General Engineering General Medicine Patient Acceptance of Health Care medicine.disease Sickle cell anemia Thalassaemias United Kingdom Europe Hemoglobinopathies Health Care Surveys Africa Utilization Review General Earth and Planetary Sciences Female business Research Article |
| Zdroj: | BMJ (Clinical research ed.). 315(7111) |
| ISSN: | 0959-8138 |
| Popis: | Objectives: To audit services for prenatal diagnosis for haemoglobin disorders in the United Kingdom. Design: Comparison of the annual number of cases recorded in a United Kingdom register of prenatal diagnoses for haemoglobin disorders, with the annual number of pregnancies at risk of these disorders, by ethnic group and regional health authority. The number of pregnancies at risk was estimated using data on ethnic group from the 1991 census and data from the United Kingdom thalassaemia register, which records the number of babies born with thalassaemia. Setting: The three national prenatal diagnosis centres for haemoglobin disorders. Subjects: 2068 cases of prenatal diagnosis for haemoglobin disorders in the United Kingdom from 1974 to 1994. Main outcome measures: Utilisation of prenatal diagnosis by risk, ethnic group, and regional health authority. Proportion of referrals in the first trimester and before the birth of any affected child. Results: National utilisation of prenatal diagnosis for haemoglobin disorders was around 20%. During the past 10 years it has remained steady at about 50% for thalassaemias and risen from 7% to 13% for sickle cell disorders. Utilisation for sickle cell disorders varies regionally from 2% to 20%. Utilisation for thalassaemias varies by ethnic group. It is almost 90% for Cypriots and ranges regionally for British Pakistanis from 0% to over 60%. About 60% of first prenatal diagnoses are done for couples without an affected child. Less than 50% of first referrals are in the first trimester. Conclusions: National utilisation of prenatal diagnosis for haemoglobin disorders is far lower than expected, and there are wide regional variations. A high proportion of referrals are still in the second trimester and after the birth of an affected child. The findings point to serious shortcomings in present antenatal screening practice and in local screening policies and to inadequate counselling resources, especially for British Pakistanis. Key messages This audit for the United Kingdom found that utilisation of prenatal diagnosis for thalassaemias is about half that expected and for sickle cell disorders one third that expected Differences in prevalence of couples at risk or in ethnic group did not account for the wide regional differences observed First trimester prenatal diagnosis is feasible for all couples at risk of haemoglobin disorders, but less than half of those having prenatal diagnosis are first referred in the first trimester To achieve the objective of the service—informed choice for couples at risk—each district health authority needs a policy promoting screening for carriers early in pregnancy and before pregnancy, immediate expert counselling in couples9 own language when appropriate, and fast track referral |
| Databáze: | OpenAIRE |
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