HLA-G expression in trophoblast cells circulating in maternal peripheral blood during early pregnancy

I J van Wijk, S Griffioen, M L Tjoa, M A Mulders, J M van Vugt, Y W Loke, C B Oudejans

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OBJECTIVE: The aim of this study was to assess the use of circulating trophoblast cells in maternal peripheral blood for noninvasive prenatal diagnosis of numeric chromosomal aberrations.

STUDY DESIGN: A combined procedure for immunocytochemical identification and deoxyribonucleic acid fluorescence in situ hybridization was used after a single enrichment step consisting of density gradient centrifugation. A specific HLA-G monoclonal antibody was used in combination with X and Y chromosome specific probes in deoxyribonucleic acid fluorescence in situ hybridization to confirm fetal identity of cells bearing HLA-G in the case of a male fetus.

RESULTS: We detected fetal trophoblast cells expressing HLA-G in maternal blood starting at 9 weeks' gestation. In addition to fetal sex prediction with X and Y chromosome-specific probes, fetal aneuploidy was confirmed in peripheral blood from a pregnancy complicated by trisomy 21.

CONCLUSION: Although the numbers of fetal cells were extremely low, the proof of concept was demonstrated. Early noninvasive prenatal screening for numeric chromosomal abnormalities with fetal trophoblast cells is feasible.

Original languageEnglish
Pages (from-to)991-7
Number of pages7
JournalAmerican Journal of Obstetrics and Gynecology
Issue number5
Publication statusPublished - Apr 2001


  • Antibodies, Monoclonal
  • Centrifugation, Density Gradient
  • Chromosome Aberrations
  • Female
  • HLA Antigens/biosynthesis
  • HLA-G Antigens
  • Histocompatibility Antigens Class I/biosynthesis
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Pregnancy
  • Pregnancy Trimester, First/immunology
  • Prenatal Diagnosis/methods
  • Sex Determination Analysis
  • Trophoblasts/cytology

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