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OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services. [ABSTRACT FROM AUTHOR]

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.

Carcinoembryonic antigen and antibodies to thyroglobulin and to a microsomal fraction of thyroid were measured. Persons examined were normal volunteers, patients with thyroid cancer, and patients with a history of childhood irradiation to the thymus and/or tonsil who were otherwise normal. Elevated antigen and antibodies were most frequently found in the cancer thyroid group. Thyroid cancer patients with no previous history of childhood irradiation were more frequently positive for antigen and antibodies than all other categories studied. Thyroid cancer patients with a previous history of childhood irradiation showed normal frequencies of antigen and antibodies. The results suggest that the antigenic expression and host response to the tumor in patients with thyroid cancer depend on its pathogenesis. Mention is made of similar findings in animal model systems.

A programme of prospective heterozygote detection and counselling, fetal diagnostic testing, and abortion of fetuses affected by thalassaemia major introduced in Britain in 1977 has proved highly acceptable to at-risk couples of Cypriot and East African Asian origin, but less so to couples of Pakistani origin. However, many at-risk couples are still not detected prospectively, the proportion of thalassaemia-major births prevented was only 32% by the end of 1981, and there is little evidence of a further fall since then. The thalassaemia-major birth-rate had fallen by 60% in Cypriots and by 20% in East African Asians, but it had not fallen at all in Pakistanis. Improved approaches to fetal diagnosis of thalassaemia major are becoming available, so a concerted effort is needed to inform all the at-risk ethnic groups of the existence of the problem and the possibility of detection of affected fetuses.