Prenatal diagnosis of hemoglobinopathies in Ontario, Canada

Ann N Y Acad Sci. 2005:1054:507-10. doi: 10.1196/annals.1345.052.

Abstract

In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thalassemia (Hb Bart's hydrops fetalis), and/or Hb H disease, and 185 (28%) for various sickling disorders (Hb SS, Hb SC, Hb S/beta-thalassemia). Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario.

MeSH terms

  • Adult
  • Amniocentesis / statistics & numerical data
  • Anemia, Sickle Cell / diagnosis
  • Anemia, Sickle Cell / epidemiology
  • Anemia, Sickle Cell / prevention & control
  • Chorionic Villi Sampling / statistics & numerical data
  • Ethnicity / genetics
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / epidemiology
  • Genetic Carrier Screening
  • Genetic Counseling
  • Gestational Age
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / epidemiology
  • Hemoglobinopathies / prevention & control
  • Humans
  • Incidence
  • Male
  • Ontario / epidemiology
  • Pregnancy
  • Prenatal Diagnosis / statistics & numerical data*
  • Risk
  • Thalassemia / diagnosis
  • Thalassemia / epidemiology
  • Thalassemia / prevention & control