title: Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years.
abstract: OBJECTIVE
  To audit services for prenatal diagnosis for haemoglobin disorders in the United Kingdom.
  
  
  METHODS
  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.
  
  
  METHODS
  The three national prenatal diagnosis centres for haemoglobin disorders.
  
  
  METHODS
  2068 cases of prenatal diagnosis for haemoglobin disorders in the United Kingdom from 1974 to 1994.
  
  
  METHODS
  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.
authors.affiliation: Department of Obstetrics and Gynaecology, University College London Medical School. b.modell@ucl.ac
authors.forename: B
authors.initials: B
authors.lastname: Modell
authors.forename: M
authors.initials: M
authors.lastname: Petrou
authors.forename: M
authors.initials: M
authors.lastname: Layton
authors.forename: L
authors.initials: L
authors.lastname: Varnavides
authors.forename: C
authors.initials: C
authors.lastname: Slater
authors.forename: R H
authors.initials: RH
authors.lastname: Ward
authors.forename: C
authors.initials: C
authors.lastname: Rodeck
authors.forename: K
authors.initials: K
authors.lastname: Nicolaides
authors.forename: S
authors.initials: S
authors.lastname: Gibbons
authors.forename: A
authors.initials: A
authors.lastname: Fitches
authors.forename: J
authors.initials: J
authors.lastname: Old
mesh_terms: D000349:Africa / Q000208:ethnology; D001208:Asia / Q000208:ethnology; D005060:Europe / Q000208:ethnology; D005260:Female; D006580:Genetic Carrier Screening; D019538:Health Care Surveys; D006297:Health Services Accessibility; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000208:ethnology; D006801:Humans; D010342:Patient Acceptance of Health Care; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*; D012017:Referral and Consultation; D012189:Retrospective Studies; D012307:Risk Factors; D006113:United Kingdom / Q000453:epidemiology; D014600:Utilization Review; D014900:West Indies / Q000208:ethnology