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Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada
Author(s) -
BASRAN RAVEEN K.,
PATTERSON MARGIE,
WALKER LYNDA,
NAKAMURA LISA M.,
ENG BARRY,
CHUI DAVID H.K.,
WAYE JOHN S.
Publication year - 2005
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1345.052
Subject(s) - prenatal diagnosis , medicine , pediatrics , obstetrics , pregnancy , genetics , fetus , biology
A bstract : 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 β‐thalassemia or hemoglobin (Hb) E/β‐thalassemia, 211 (31%) for homozygous α 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/β‐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.