Cell-free fetal DNA and intact fetal cells in maternal blood circulation: Implications for first and second trimester non-invasive prenatal diagnosis

Farideh Z. Bischoff, Mina K. Sinacori, Diane D. Dang, Deborah Marquez-Do, Cassandra Horne, Dorothy E. Lewis, Jo Leigh Simpson

Research output: Contribution to journalReview article

51 Scopus citations

Abstract

Both intact fetal cells as well as cell-free fetal DNA are present in the maternal circulation and can be recovered for non-invasive prenatal genetic diagnosis. Although methods for enrichment and isolation of rare intact fetal cells have been challenging, diagnosis of fetal chromosomal aneuploidy including trisomy 21 in first- and second-trimester pregnancies has been achieved with a 50-75% detection rate. Similarly, cell-free fetal DNA can be reliably recovered from maternal plasma and assessed by quantitative PCR to detect fetal trisomy 21 and paternally derived single gene mutations. Real-time PCR assays are robust in detecting low-level fetal DNA concentrations, with sensitivity of approximately 95-100% and specificity near 100%. Comparing intact fetal cell versus cell-free fetal DNA methods for non-invasive prenatal screening for fetal chromosomal aneuploidy reveals that the latter is at least four times more sensitive. These preliminary results do not support a relationship between frequency of intact fetal cells and concentration of cell-free fetal DNA. The above results imply that the concentration of fetal DNA in maternal plasma may not be dependent on circulating intact fetal cells but rather be a product of growth and cellular turnover during embryonic or fetal development.

Original languageEnglish (US)
Pages (from-to)493-500
Number of pages8
JournalHuman Reproduction Update
Volume8
Issue number6
DOIs
StatePublished - Nov 2002

Keywords

  • Cell-free fetal DNA in maternal plasma
  • Fetal cells in maternal blood
  • Fetal chromosomal aneuploidy
  • Non-invasive prenatal diagnosis
  • Real-time quantitative PCR

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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