Abstract
Background: Large quantities of cell-free foetal DNA have been detected in amniotic fluid, and it has been proposed that this material may contribute to the pool of cell-free foetal DNA in maternal plasma. Methods: Twelve maternal blood samples were obtained from pregnant women about to undergo an amniocentesis. Cell-free DNA was extracted from the maternal plasma samples and the matched amniotic fluid samples. The amount of cell-free foetal DNA was quantified by real-time PCR assays for the SRY and RHD genes. Results: Amniotic fluid was found to contain vast quantities of cell-free DNA (median concentration = 3,978 copies/ml amniotic fluid). The concentration of cell-free foetal DNA in maternal plasma was much lower (median concentration = 96.6 copies/ml maternal plasma). No significant correlation could, however, be determined between these two pools of cell-free foetal DNA. Conclusions: Our data confirm that amniotic fluid contains prodigious quantities of cell-free foetal DNA, but as no relationship exists between this material and that in the maternal circulation, it is unlikely that the amnion contributes to the presence of cell-free foetal DNA in maternal plasma.
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References
Hahn S, Holzgreve W (2002) Prenatal diagnosis using foetal cells and cell-free foetal DNA in maternal blood: what is currently feasible?. Clin Obstet Gynecol 45:649–56
Chiu RW, Lo YM (2004) The biology and diagnostic applications of foetal DNA and RNA in maternal plasma. Curr Top Dev Biol 61:81–111
Finning KM, Martin PG, Soothill PW, Avent ND (2002) Prediction of foetal D status from maternal plasma: introduction of a new noninvasive foetal RHD genotyping service. Transfusion 42:1079–85
Gautier E, Benachi A, Giovangrandi Y, Ernault P, Olivi M, Gaillon T, Costa JM (2005) Foetal RhD genotyping by maternal serum analysis: a two-year experience. Am J Obstet Gynecol 192:666–669
Leung TN, Zhang J, Lau TK, Chan LY, Lo YM (2001) Increased maternal plasma foetal DNA concentrations in women who eventually develop preeclampsia. Clin Chem 47:137–139
Zhong XY, Holzgreve W, Hahn S (2002) The levels of circulatory cell free foetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens Pregnancy 21:77–83
Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM (1998) Maternal plasma foetal DNA as a marker for preterm labour. Lancet 352:1904–1905
Lo YM, Lau TK, Zhang J, Leung TN, Chang AM, Hjelm NM, Elmes RS, Bianchi DW (1999) Increased foetal DNA concentrations in the plasma of pregnant women carrying foetuses with trisomy 21. Clin Chem 45:1747–51
Zhong XY, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S (2000) Foetal DNA in maternal plasma is elevated in pregnancies with aneuploid foetuses. Prenat Diagn 20:795–798
Hahn S, Holzgreve W (2002) Foetal cells and cell-free foetal DNA in maternal blood: new insights into pre-eclampsia. Hum Reprod Update 8:501–508
Bianchi DW, Lo YM (2001) Foetomaternal cellular and plasma DNA trafficking: the Yin and the Yang. Ann N Y Acad Sci 945:119–131
Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM (1999) Rapid clearance of foetal DNA from maternal plasma. Am J Hum Genet 64:218–224
Gupta AK, Holzgreve W, Huppertz B, Malek A, Schneider H, Hahn S (2004) Detection of foetal DNA and RNA in placenta-derived syncytiotrophoblast microparticles generated in vitro. Clin Chem 50:2187–2190
Flori E, Doray B, Gautier E, Kohler M, Ernault P, Flori J, Costa JM (2004) Circulating cell-free foetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report Hum Reprod 19:723–724
Sekizawa A, Samura O, Zhen DK, Falco V, Farina A, Bianchi DW (2000) Apoptosis in foetal nucleated erythrocytes circulating in maternal blood. Prenat Diagn 20:886–889
Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S (2000) High levels of foetal erythroblasts and foetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios case report. Prenat Diagn 20:838–841
Hoesli I, Danek M, Lin D, Li Y, Hahn S, Holzgreve W (2002) Circulating erythroblasts in maternal blood are not elevated before onset of preterm labor. Obstet Gynecol 100:992–996
Zhong XY, Holzgreve W, Hahn S (2002) Cell-free foetal DNA in the maternal circulation does not stem from the transplacental passage of foetal erythroblasts. Mol Hum Reprod 8:864–870
Bianchi DW, LeShane ES, Cowan JM (2001) Large amounts of cell-free foetal DNA are present in amniotic fluid. Clin Chem 47:1867–1869
Zhong XY, Holzgreve W, Hahn S (2001) Risk free simultaneous prenatal identification of foetal Rhesus D status and sex by multiplex real-time PCR using cell free foetal DNA in maternal plasma. Swiss Med Wkly 131:70–74
Hahn S, Huppertz B, Holzgreve W (2005) Foetal cells and cell free foetal nucleic acids in maternal blood: new tools to study abnormal placentation?. Placenta 26:515–526
Poon LL, Leung TN, Lau TK, Chow KC, Lo YM (2002) Differential DNA methylation between foetus and mother as a strategy for detecting foetal DNA in maternal plasma. Clin Chem 48:35–41
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Zhong, X.Y., Holzgreve, W., Tercanli, S. et al. Cell-free foetal DNA in maternal plasma does not appear to be derived from the rich pool of cell-free foetal DNA in amniotic fluid. Arch Gynecol Obstet 273, 221–226 (2006). https://doi.org/10.1007/s00404-005-0068-0
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DOI: https://doi.org/10.1007/s00404-005-0068-0