Prenatal detection of Hb mutations using transcervical cells

Prenat Diagn. 1997 Jun;17(6):539-43. doi: 10.1002/(sici)1097-0223(199706)17:6<539::aid-pd106>3.0.co;2-8.

Abstract

Prenatal diagnoses were performed on six selected pairs of parents known to be carriers of Hb mutations by testing transcervical cells (TCCs) retrieved, prior to chorionic villus sampling (CVS), by aspiration of the cervical mucus from the pregnant mothers at 10-12 weeks of gestation. A concordance between the results of testing chorionic villus cells and isolated clumps of trophoblastic cellular elements was observed in four of the six cases.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cervix Uteri / cytology*
  • Chorionic Villi Sampling
  • Female
  • Fetal Hemoglobin / genetics*
  • Hemoglobin, Sickle / genetics*
  • Heterozygote
  • Humans
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Thalassemia / genetics*
  • Trophoblasts / cytology*

Substances

  • Hemoglobin, Sickle
  • Fetal Hemoglobin