Evaluation of the use of monoclonal antibodies and nested PCR for noninvasive prenatal diagnosis of hemoglobinopathies in India

Am J Clin Pathol. 2008 Aug;130(2):202-9. doi: 10.1309/1WDCPGTAJJ6A938V.

Abstract

Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal erythroblasts for detecting the beta-globin gene mutations for a noninvasive prenatal diagnosis of hemoglobinopathies. Maternal blood at different periods of gestation was layered on a Percoll density gradient for enrichment of fetal nucleated RBCs (NRBCs). A combination of 3 monoclonal antibodies (CD45-peridinin chlorophyll protein, glycophorin A-phycoerythrin, and anti-hemoglobin F-fluorescein isothiocyanate) was used for flow cytometric sorting of fetal NRBCs from enriched cells. Different nested PCR-based approaches were used for identification of fetal mutations. Owing to heterogeneity of beta-thalassemia mutations in the population of India, we had to screen for 12 mutations and were able to give an accurate diagnosis in 84 (84.0%) of 100 cases when compared with chorionic villus sampling or cordocentesis and DNA analysis.This nested PCR approach enabled amplification of small quantities of DNA from fetal erythroblasts, providing a cost-effective method for noninvasive diagnosis.

Publication types

  • Comparative Study
  • Evaluation Study

MeSH terms

  • Antibodies, Monoclonal*
  • Cost-Benefit Analysis
  • Erythroblasts
  • Female
  • Fetal Blood
  • Genetic Testing
  • Globins / genetics*
  • Hemoglobinopathies / diagnosis*
  • Humans
  • India
  • Minisatellite Repeats
  • Mutation
  • Polymerase Chain Reaction*
  • Pregnancy
  • Prenatal Diagnosis / economics
  • Prenatal Diagnosis / methods*

Substances

  • Antibodies, Monoclonal
  • Globins