Early prenatal diagnosis of thalassemia: the first report of experience in mainland China

Hemoglobin. 2011;35(4):434-8. doi: 10.3109/03630269.2011.571330.

Abstract

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Asian People
  • China
  • Chorionic Villi Sampling / methods*
  • Early Diagnosis*
  • Feasibility Studies
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / ethnology
  • Fetal Diseases / genetics
  • Humans
  • Karyotyping
  • Pregnancy
  • Reproducibility of Results
  • Retrospective Studies
  • Sensitivity and Specificity
  • Thalassemia / diagnosis*
  • Thalassemia / ethnology
  • Thalassemia / genetics
  • Young Adult