Haematological aspects of antenatal diagnosis for thalassaemia in Britain

Br J Haematol. 1980 Oct;46(2):185-97. doi: 10.1111/j.1365-2141.1980.tb05957.x.

Abstract

The results are described of 200 antenatal diagnostic tests for haemoglobinopathies performed on samples of fetal blood obtained during the second trimester of pregnancy. Haemoglobin A synthesis in the fetus was measured by incorporation of tritiated leucine in vitro and separation of the globin chains on CM23 columns. The range of HbA synthesis detected was 3.5-8.0% in normal fetuses, 2.0-5.0% in fetuses with thalassaemia trait, and less than 1.6% in fetuses with thalassaemia major. There were eight cases in which other haemoglobinopathies were diagnosed. 29% of the pregnancies were terminated because thalassaemia major was diagnosed, and 9.5% of the remaining healthy fetuses were lost for obstetric reasons. Follow up has been possible for 96% of the 124 surviving babies and three misdiagnoses have come to light; one false positive (0.5%) and two false negatives (1%). These figures represent a first effort at antenatal diagnosis for haemoglobinopathies and it is likely that they will improve with the passage of time.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromatography, Ion Exchange
  • Diagnostic Errors
  • Female
  • Fetal Blood / metabolism*
  • Follow-Up Studies
  • Hemoglobin A / biosynthesis*
  • Humans
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Thalassemia / diagnosis*
  • United Kingdom

Substances

  • Hemoglobin A