BibTex RIS Kaynak Göster

Cell-free fetal DNA and RNA circulating in maternal blood: review, part I

Yıl 2010, Cilt: 1 Sayı: 3, 52 - 60, 05.04.2013

Ali Çetin

https://doi.org/10.12808/bcs.v1i3.11

Öz

Abstract

This review evaluates the scientific and clinical status of the use of circulating cell-free fetal nucleic acid technology for non-invasive prenatal diagnosis, a rapidly developing and dynamic field. After the landmark discovery of cell-free fetal DNA in maternal blood during pregnancy was made more than a decade ago, it was recognized that the cell-free fetal DNA represents only a small fraction of the total cell-free DNA in the maternal circulation during pregnancy. It is known that it can be reliably detected from 5 weeks gestation and is totally cleared within a few hours of birth. The promise of that breakthrough is now being realized as the technology is translated into clinical practice for the non-invasive prenatal diagnosis.

Keywords: Cell-free fetal nucleic acids, DNA, RNA, pregnancy, non-invasive prenatal diagnosis

Özet

Anne kanında serbest dolaşan hücre dışı fetal DNA ve RNA: derleme, bölüm 1

Bu derleme hızlı gelişen ve dinamik bir alan olan non-invaziv prenatal tanı için dolaşımda bulunan hücre dışı fetal nükleik asitlerin kullanımının bilimsel ve klinik durumunu içerir. Gebelikte anne kanında hücre dışı fetal DNA'nın bulunmasının üzerinde on yıldan fazla süre geçtikten sonra, gebelikte anne kanında bulunan serbest DNA'nın küçük bir kısmını oluşturduğu görüldü. Gebeliğin beşinci haftasından sonra ölçülebilmektedir ve doğumdan kısa süre sonra kandan kaybolmaktadır. Bu ilerlemenin sayesinde non-invaziv prenatal tanı için bu teknoloji klinik pratiğe aktarılmaya çalışılmaktadır.

Anahtar sözcükler: Hücre dışı fetal nükleik asitler, DNA, RNA, gebelik, non-invasiv prenatal tanı

Anahtar Kelimeler

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Kaynakça

  • American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007 Dec;110(6):1459-67.
  • Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000 Feb;46(2):301-2.
  • Ariga H, Ohto H, Busch MP, Imamura S, Watson R, Reed W, Lee TH. Kinetics of fetal cellular and cell-free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis. Transfusion. 2001 Dec;41(12):1524-30.Avent ND, Finning KM, Martin PG, Soothill PW. Prenatal determination of fetal blood group status. Vox Sang. 2000;78 Suppl 2:155-62.
  • Bianchi DW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci U S A. 1990 May;87(9):3279-83.
  • Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15.
  • Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):705-8.
  • Bianchi DW. Fetal cells in the mother: from genetic diagnosis to diseases associated with fetal cell microchimerism. Eur J Obstet Gynecol Reprod Biol. 2000 Sep;92(1):103-8.
  • Bianchi DW. Fetal DNA in maternal plasma: the plot thickens and the placental barrier thins. Am J Hum Genet. 1998 Apr;62(4):763-4.
  • Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update. 2005 Jan-Feb;11(1):59-67.
  • Chan LY, Leung TN, Chan KC, Tai HL, Lau TK, Wong EM, Lo YM. Serial analysis of fetal DNA concentrations in maternal plasma in late pregnancy. Clin Chem. 2003 Apr;49(4):678-80.
  • Chen CP, Chern SR, Wang W. Fetal DNA analyzed in plasma from a mother's three consecutive pregnancies to detect paternally inherited aneuploidy. Clin Chem. 2001 May;47(5):937-9.
  • Chen CP, Chern SR, Wang W. Fetal DNA in maternal plasma: the prenatal detection of a paternally inherited fetal aneuploidy. Prenat Diagn. 2000 Apr;20(4):355-7.
  • Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. Epub 2008 Dec 10.
  • Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YM. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem. 2010 Mar;56(3):459-63.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem. 2010 Aug;56(8):1279-86.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71.
  • Giacona MB, Ruben GC, Iczkowski KA, Roos TB, Porter DM, Sorenson GD. Cell- free DNA in human blood plasma: length measurements in patients with pancreatic cancer and healthy controls. Pancreas. 1998 Jul;17(1):89-97.
  • Hall A, Bostanci A, Wright CF. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics. 2010;13(4):246-55. Epub 2010 Apr 15.
  • Hamada H, Arinami T, Kubo T, Hamaguchi H, Iwasaki H. Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum Genet. 1993 Jun;91(5):427-32.
  • Hasselmann DO, Rappl G, Tilgen W, Reinhold U. Extracellular tyrosinase mRNA within apoptotic bodies is protected from degradation in human serum. Clin Chem. 2001 Aug;47(8):1488-9.
  • Jahr S, Hentze H, Englisch S, Hardt D, Fackelmayer FO, Hesch RD, Knippers R. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 2001 Feb 15;61(4):1659-65.
  • Kopreski MS, Benko FA, Kwak LW, Gocke CD. Detection of tumor messenger RNA in the serum of patients with malignant melanoma. Clin Cancer Res. 1999 Aug;5(8):1961-5.
  • Krabchi K, Gros-Louis F, Yan J, Bronsard M, Massé J, Forest JC, Drouin R. Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin Genet. 2001 Aug;60(2):145-50.
  • Leon SA, Shapiro B, Sklaroff DM, Yaros MJ. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977 Mar;37(3):646-50.
  • Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485-7.
  • Lo YM, Hjelm NM, Fidler C, Sargent IL, Murphy MF, Chamberlain PF, Poon PM, Redman CW, Wainscoat JS. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med. 1998a Dec 10;339(24):1734-8.
  • Lo YM, Lo ES, Watson N, Noakes L, Sargent IL, Thilaganathan B, Wainscoat JS. Two-way cell traffic between mother and fetus: biologic and clinical implications. Blood. 1996 Dec 1;88(11):4390-5.
  • Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998b Apr;62(4):768-75.
  • Lurie S, Mamet Y. Red blood cell survival and kinetics during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2000 Dec;93(2):185-92.
  • Nair SP, Peter S, Pillay VV, Remya UM, Krishnaprasad R, Rajammal B. Detection
  • of Y STR markers of male fetal dna in maternal circulation. Indian J Hum Genet.
  • February;13(2):69-72.
  • Ng EK, Tsui NB, Lau TK, Leung TN, Chiu RW, Panesar NS, Lit LC, Chan KW, Lo YM. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4748-53. Epub 2003 Mar 18.
  • Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim PT, Bianchi DW. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet. 2000 Jan;106(1):45-9.
  • Poon LL, Leung TN, Lau TK, Chow KC, Lo YM. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem. 2002 Jan;48(1):35-41.
  • Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem. 2000 Nov;46(11):1832-4.
  • Rijnders RJ, Van Der Luijt RB, Peters ED, Goeree JK, Van Der Schoot CE, Ploos Van Amstel JK, Christiaens GC. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003 Dec 30;23(13):1042-4.
  • Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000 Sep 30;356(9236):1170.
  • Tang NL, Leung TN, Zhang J, Lau TK, Lo YM. Detection of fetal-derived paternally inherited X-chromosome polymorphisms in maternal plasma. Clin Chem. 1999 Nov;45(11):2033-5.
  • Tjoa ML, Cindrova-Davies T, Spasic-Boskovic O, Bianchi DW, Burton GJ. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Am J Pathol. 2006 Aug;169(2):400-4.
  • Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update. 2009 Jan-Feb;15(1):139- 51.

Yıl 2010, Cilt: 1 Sayı: 3, 52 - 60, 05.04.2013

Ali Çetin

https://doi.org/10.12808/bcs.v1i3.11

Öz

Kaynakça

  • American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007 Dec;110(6):1459-67.
  • Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem. 2000 Feb;46(2):301-2.
  • Ariga H, Ohto H, Busch MP, Imamura S, Watson R, Reed W, Lee TH. Kinetics of fetal cellular and cell-free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis. Transfusion. 2001 Dec;41(12):1524-30.Avent ND, Finning KM, Martin PG, Soothill PW. Prenatal determination of fetal blood group status. Vox Sang. 2000;78 Suppl 2:155-62.
  • Bianchi DW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci U S A. 1990 May;87(9):3279-83.
  • Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15.
  • Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):705-8.
  • Bianchi DW. Fetal cells in the mother: from genetic diagnosis to diseases associated with fetal cell microchimerism. Eur J Obstet Gynecol Reprod Biol. 2000 Sep;92(1):103-8.
  • Bianchi DW. Fetal DNA in maternal plasma: the plot thickens and the placental barrier thins. Am J Hum Genet. 1998 Apr;62(4):763-4.
  • Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update. 2005 Jan-Feb;11(1):59-67.
  • Chan LY, Leung TN, Chan KC, Tai HL, Lau TK, Wong EM, Lo YM. Serial analysis of fetal DNA concentrations in maternal plasma in late pregnancy. Clin Chem. 2003 Apr;49(4):678-80.
  • Chen CP, Chern SR, Wang W. Fetal DNA analyzed in plasma from a mother's three consecutive pregnancies to detect paternally inherited aneuploidy. Clin Chem. 2001 May;47(5):937-9.
  • Chen CP, Chern SR, Wang W. Fetal DNA in maternal plasma: the prenatal detection of a paternally inherited fetal aneuploidy. Prenat Diagn. 2000 Apr;20(4):355-7.
  • Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. Epub 2008 Dec 10.
  • Chiu RW, Sun H, Akolekar R, Clouser C, Lee C, McKernan K, Zhou D, Nicolaides KH, Lo YM. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem. 2010 Mar;56(3):459-63.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem. 2010 Aug;56(8):1279-86.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266-71.
  • Giacona MB, Ruben GC, Iczkowski KA, Roos TB, Porter DM, Sorenson GD. Cell- free DNA in human blood plasma: length measurements in patients with pancreatic cancer and healthy controls. Pancreas. 1998 Jul;17(1):89-97.
  • Hall A, Bostanci A, Wright CF. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics. 2010;13(4):246-55. Epub 2010 Apr 15.
  • Hamada H, Arinami T, Kubo T, Hamaguchi H, Iwasaki H. Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum Genet. 1993 Jun;91(5):427-32.
  • Hasselmann DO, Rappl G, Tilgen W, Reinhold U. Extracellular tyrosinase mRNA within apoptotic bodies is protected from degradation in human serum. Clin Chem. 2001 Aug;47(8):1488-9.
  • Jahr S, Hentze H, Englisch S, Hardt D, Fackelmayer FO, Hesch RD, Knippers R. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 2001 Feb 15;61(4):1659-65.
  • Kopreski MS, Benko FA, Kwak LW, Gocke CD. Detection of tumor messenger RNA in the serum of patients with malignant melanoma. Clin Cancer Res. 1999 Aug;5(8):1961-5.
  • Krabchi K, Gros-Louis F, Yan J, Bronsard M, Massé J, Forest JC, Drouin R. Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques. Clin Genet. 2001 Aug;60(2):145-50.
  • Leon SA, Shapiro B, Sklaroff DM, Yaros MJ. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977 Mar;37(3):646-50.
  • Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485-7.
  • Lo YM, Hjelm NM, Fidler C, Sargent IL, Murphy MF, Chamberlain PF, Poon PM, Redman CW, Wainscoat JS. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med. 1998a Dec 10;339(24):1734-8.
  • Lo YM, Lo ES, Watson N, Noakes L, Sargent IL, Thilaganathan B, Wainscoat JS. Two-way cell traffic between mother and fetus: biologic and clinical implications. Blood. 1996 Dec 1;88(11):4390-5.
  • Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998b Apr;62(4):768-75.
  • Lurie S, Mamet Y. Red blood cell survival and kinetics during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2000 Dec;93(2):185-92.
  • Nair SP, Peter S, Pillay VV, Remya UM, Krishnaprasad R, Rajammal B. Detection
  • of Y STR markers of male fetal dna in maternal circulation. Indian J Hum Genet.
  • February;13(2):69-72.
  • Ng EK, Tsui NB, Lau TK, Leung TN, Chiu RW, Panesar NS, Lit LC, Chan KW, Lo YM. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4748-53. Epub 2003 Mar 18.
  • Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim PT, Bianchi DW. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet. 2000 Jan;106(1):45-9.
  • Poon LL, Leung TN, Lau TK, Chow KC, Lo YM. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem. 2002 Jan;48(1):35-41.
  • Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem. 2000 Nov;46(11):1832-4.
  • Rijnders RJ, Van Der Luijt RB, Peters ED, Goeree JK, Van Der Schoot CE, Ploos Van Amstel JK, Christiaens GC. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003 Dec 30;23(13):1042-4.
  • Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet. 2000 Sep 30;356(9236):1170.
  • Tang NL, Leung TN, Zhang J, Lau TK, Lo YM. Detection of fetal-derived paternally inherited X-chromosome polymorphisms in maternal plasma. Clin Chem. 1999 Nov;45(11):2033-5.
  • Tjoa ML, Cindrova-Davies T, Spasic-Boskovic O, Bianchi DW, Burton GJ. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Am J Pathol. 2006 Aug;169(2):400-4.
  • Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update. 2009 Jan-Feb;15(1):139- 51.
Toplam 41 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Clinical Sciences
Yazarlar

Ali Çetin

Yayımlanma Tarihi 5 Nisan 2013
Yayımlandığı Sayı Yıl 2010 Cilt: 1 Sayı: 3

Kaynak Göster

APA Çetin, A. (2013). Cell-free fetal DNA and RNA circulating in maternal blood: review, part I. Basic and Clinical Sciences, 1(3), 52-60. https://doi.org/10.12808/bcs.v1i3.11
AMA Çetin A. Cell-free fetal DNA and RNA circulating in maternal blood: review, part I. Basic and Clinical Sciences. Nisan 2013;1(3):52-60. doi:10.12808/bcs.v1i3.11
Chicago Çetin, Ali. “Cell-Free Fetal DNA and RNA Circulating in Maternal Blood: Review, Part I”. Basic and Clinical Sciences 1, sy. 3 (Nisan 2013): 52-60. https://doi.org/10.12808/bcs.v1i3.11.
EndNote Çetin A (01 Nisan 2013) Cell-free fetal DNA and RNA circulating in maternal blood: review, part I. Basic and Clinical Sciences 1 3 52–60.
IEEE A. Çetin, “Cell-free fetal DNA and RNA circulating in maternal blood: review, part I”, Basic and Clinical Sciences, c. 1, sy. 3, ss. 52–60, 2013, doi: 10.12808/bcs.v1i3.11.
ISNAD Çetin, Ali. “Cell-Free Fetal DNA and RNA Circulating in Maternal Blood: Review, Part I”. Basic and Clinical Sciences 1/3 (Nisan 2013), 52-60. https://doi.org/10.12808/bcs.v1i3.11.
JAMA Çetin A. Cell-free fetal DNA and RNA circulating in maternal blood: review, part I. Basic and Clinical Sciences. 2013;1:52–60.
MLA Çetin, Ali. “Cell-Free Fetal DNA and RNA Circulating in Maternal Blood: Review, Part I”. Basic and Clinical Sciences, c. 1, sy. 3, 2013, ss. 52-60, doi:10.12808/bcs.v1i3.11.
Vancouver Çetin A. Cell-free fetal DNA and RNA circulating in maternal blood: review, part I. Basic and Clinical Sciences. 2013;1(3):52-60.