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

Bischoff, FZ, Sinacori, MK, Dang, DD et al. (2002). Cell-free fetal DNA and intact fetal cells in maternal blood circulation: Implications for first and second trimester non-invasive prenatal diagnosis . 8(6), 493-500. 10.1093/humupd/8.6.493



cited authors

  • Bischoff, FZ; Sinacori, MK; Dang, DD; Marquez-Do, D; Horne, C; Lewis, DE; Simpson, JL

fiu authors

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.

publication date

  • November 1, 2002

Digital Object Identifier (DOI)

start page

  • 493

end page

  • 500

volume

  • 8

issue

  • 6