Elevated levels of total (maternal and fetal) β-globin DNA in maternal blood from first trimester pregnancies with trisomy 21 Article

Jorgez, CJ, Dang, DD, Wapner, R et al. (2007). Elevated levels of total (maternal and fetal) β-globin DNA in maternal blood from first trimester pregnancies with trisomy 21 . 22(8), 2267-2272. 10.1093/humrep/dem154



cited authors

  • Jorgez, CJ; Dang, DD; Wapner, R; Farina, A; Simpson, JL; Bischoff, FZ

fiu authors

abstract

  • Background: Elevated levels of circulating fetal DNA have been observed in maternal plasma when a trisomy 21 fetus is confirmed. However, these studies have been limited to pregnancies carrying a male fetus. We sought to quantify total (fetal and maternal) DNA from dried blood spots (DBS) for use as an additional factor in multi-parameter prenatal screening for aneuploidy. Methods: Maternal DBS were obtained from the NICHD-sponsored multi-center cohort (BUN) study. Seventeen confirmed trisomy 21 (mean gestational age 12.23 ± 0.77 weeks) cases were each matched by gestational age to euploid controls (n = 30). DNA was extracted and quantitative PCR was performed to measure four non-chromosome 21 loci, including glyceraldehyde-3-phosphate dehydrogenase (GAPDH) (12p13), β-globin (11p15.5), β-actin (7p15-12) and p53 (17p13.1). Results: β-Globin DNA levels were significantly elevated (P = 0.003) in 13 of 17 trisomy 21 cases (4.08 ± 1.78 Geq/ml × 105) compared with matched controls (2.35 ± 1.84 Geq/ml × 105). Following conversion of β-globin concentrations into multiples of the median (MoM), MoM for trisomy 21 cases was 2.8 compared with 1.0 in euploid cases. No significant differences in levels of circulating GAPDH, β-actin and p53 sequences were detected. Conclusions: This work demonstrates differential levels of circulating β-globin DNA in maternal blood of euploid and trisomy 21 cases. Sequence-specific quantification could provide an additional measure to improve non-invasive methods of prenatal screening to detect trisomy 21 using dried blood. β-Globin in particular is an attractive biomarker that could contribute to enhance multiple serum parameter testing in the first trimester. © The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.

publication date

  • January 1, 2007

Digital Object Identifier (DOI)

start page

  • 2267

end page

  • 2272

volume

  • 22

issue

  • 8