Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 84-90 , April 2008

Non-invasive prenatal diagnosis: Implications for antenatal diagnosis and management of high-risk pregnancies

  • M.S. Alberry

      Affiliations

    • Department of Fetal Medicine, University of Bristol, Bristol, UK
    • Ain-Shams University Maternity Hospital, Cairo, Egypt
    • Corresponding Author InformationCorresponding author. Department of Fetal Medicine, University of Bristol, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK. Tel.: +44 0117 928 5277.
    • ,
  • P.W. Soothill

      Affiliations

    • Department of Fetal Medicine, University of Bristol, Bristol, UK
    • United Bristol Health Care Trust, Bristol, UK

References 

  1. Williamson C. Molecular biology related to pre-eclampsia. Int Congr Series. 2005;1279:282–289
  2. Lo YM, Corbetta N, Chamberlain PR, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–487
  3. Poon LL, Leung TN, Lau TK, Lo YM. Presence of fetal RNA in maternal plasma. Clin Chem. 2000;46:1832–1834
  4. Ng EK, Tsui NB, Lau TK, et al. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci USA. 2003;100:4748–4753
  5. Rijnders RJ, van der Luijt RB, Peters ED, et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003;23:1042–1044
  6. Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002;42:1079–1085
  7. Chiu RW, Lui WB, Cheung MC, et al. Time profile of appearance and disappearance of circulating placenta-derived mRNA in maternal plasma. Clin Chem. 2006;52:313–316
  8. Lo YM. Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping. Transfusion Clin Biol. 2006;13:50–52
  9. Ishihara N, Matsuo H, Murakoshi H, Laoag-Fernandez JB, Samoto T, Maruo T. Increased apoptosis in the syncytiotrophoblast in human term placentas complicated by either PET or intrauterine growth retardation. Am J Obstet Gynecol. 2002;186(1):158–166
  10. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet. 1999;64:218–224
  11. Alberry M, Maddocks D, Jones M, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblasts. Prenat Diagn. 2007;27(5):415–418
  12. Flori E, Doray B, Gautier E, Kohler M. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto and syncytio-trophoblastic cells. Case report. Hum Reprod. 2004;19(3):723–724
  13. Masuzaki H, Miura K, Yoshiura K, et al. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J Med Genet. 2004;41:289–292
  14. Wataganara T, Gratacos E, Jani J, et al. Persistent elevation of cell-free fetal DNA levels in maternal plasma after selective laser coagulation of chorionic plate anastomoses in severe midgestational twintwin transfusion syndrome. Am J Obstet Gynecol. 2005;192:604–609
  15. Sibai B, Dekker G, Kupferminc M. Pre-eclampsia. Lancet. 2005;365:785–799
  16. Lo YMD, Leung TN, Tein MS, et al. Quantitative abnormalities of fetal DNA in maternal serum in PET. Clin Chem. 1999;45:184–188
  17. Smid M, Vassallo A, Lagona F, et al. Quantitative analysis of fetal DNA in maternal plasma in pathological conditions associated with placental abnormalities. Ann NY Acad Sci. 2001;945:132–137
  18. Shimada K, Murakami K, Shozu M, Segawa T, Sumitani H, Inoue M. Sex-determining region Y levels in maternal plasma: evaluation in abnormal pregnancy. J Obstet Gynaecol Res. 2004;30:148–154
  19. Zhong XY, Laivuori H, Livingston JC, et al. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with PET. Am J Obstet Gynecol. 2001;184:414–419
  20. Sekizawa A, Farina A, Koide K, et al. Beta-globin DNA in maternal plasma as a molecular marker of pre-eclampsia. Prenat Diagn. 2004;24(9):697–700
  21. Leung TN, Zhang J, Lau TK, Chan LY, Lo YM. Increased maternal plasma fetal DNA concentrations in women who eventually develop PET. Clin Chem. 2001;47:137–139
  22. Zhong XY, Holzgreve W, Hahn S. The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of PET. Hypertens Pregnancy. 2002;21:77–83
  23. Levine RJ, Qian C, LeShane ES. Two-stage elevation of cell-free fetal DNA in maternal sera before onset of PET. Am J Obstet Gynecol. 2004;190:707–713
  24. Farina A, Sekizawa A, Sugito Y, et al. Fetal DNA in maternal plasma as a screening variable for PET. A preliminary nonparametric analysis of detection rate in low-risk non-symptomatic patients. Prenat Diagn. 2004;24:83–86
  25. Swinkels DW, de Kok JB, Hendriks JC, Wiegerinck E, Zusterzeel PL, Steegers EA. Hemolysis, elevated liver enzymes and low platelet count (HELLP) syndrome as a complication of PET in pregnant women increases the amount of cell-free fetal and maternal DNA in maternal plasma and serum. Clin Chem. 2002;48:650–653
  26. Farina A, Sekizawa A, Rizzo N, et al. Cell-free fetal DNA (SRY locus) concentration in maternal plasma is directly correlated to the time elapsed from the onset of PET to the collection of blood. Prenat Diagn. 2004;24:293–297
  27. Illanes S, Parra M, Trebilcock J, et al. Increased free fetal DNA (fffDNA) levels in the plasma of pregnant women in early pregnancy are observed in patients who subsequently develop severe placental disease. Ultrasound Obstet Gynecol. 2007 Oct;30(4):431
  28. Godfrey KM, Barker DJ. Fetal nutrition and adult disease. Am J Clin Nutr. 2000;71:1344–1352
  29. Alberry M, Soothill P. Management of FGR. Arch Dis Child Fetal Neonatal Ed. 2007;92(1):62–67
  30. Smid M, Galbiati S, Lojacono A, et al. Correlation of fetal DNA levels in maternal plasma with Doppler status in pathological pregnancies. Prenat Diagn. 2006;26:785–790
  31. Caramelli E, Rizzo N, Concu M, et al. Cell-free fetal DNA concentration in plasma of patients with abnormal uterine artery Doppler waveform and intrauterine growth restriction-a pilot study. Prenat Diagn. 2003;23:367–371
  32. Sekizawa A, Jimbo M, Saito H, et al. Cell free fetal DNA in the plasma of pregnant women with severe FGR. Am J Obstet Gynecol. 2003;188:480–484
  33. Smith GC, Shah I, White IR, Pell JP, Crossley JA, Dobbie R. Maternal and biochemical predictors of spontaneous preterm labour among nulliparous women: a systematic analysis in relation to the degree of prematurity. Int J Epidemiol. 2006;35:1169–1177
  34. Goffinet F. Primary predictors of preterm labour. BJOG. 2005;112(1):38–47
  35. Hassan SS, Romero R, Berry SM, et al. Patients with an ultrasonographic cervical length ≤15mm have nearly a 50% risk of early spontaneous preterm delivery. Am J Obstet Gynecol. 2000;182:1458–1467
  36. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM. Maternal plasma fetal DNA as a marker for preterm labour. Lancet. 1998;352(9144):1904–1905
  37. Farina A, LeShane ES, Romero R, et al. High levels of fetal cell-free DNA in maternal serum: a risk factor for spontaneous preterm delivery. Am J Obstet Gynecol. 2005;193:421–425
  38. Sekizawa A, Jimbo M, Saito H, et al. Increased cell-free fetal DNA in plasma of two women with invasive placenta. Clin Chem. 2002;48:353–354
  39. Lazar L, Nagy B, Ban Z, Nagy GR, Papp Z. Presence of cell-free fetal DNA in plasma of women with ectopic pregnancies. Clin Chem. 2006;52(8):1599–1601
  40. Yin A, Ng EH, Zhang X, He Y, Wu J, Leung KY. Correlation of maternal plasma total cell-free DNA and fetal DNA levels with short term outcome of first-trimester vaginal bleeding. Hum Reprod. 2007;22(6):1736–1743
  41. Sekizawa A, Sugito Y, Iwasaki M, et al. Cell-free fetal DNA is increased in plasma of women with hyperemesis gravidarum. Clin Chem. 2001;47:2164–2165
  42. Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S. High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat Diagn. 2000;20:838–841
  43. Smid M, Galbiati S, Vassallo A, et al. Fetal DNA in maternal plasma in twin pregnancies. Clin Chem. 2003 Sep;49(9):1526–1528
  44. Ng EK, Leung TN, Tsui NB, et al. The concentration of circulating corticotrophin releasing hormone mRNA in maternal plasma is increased in PET. Clin Chem. 2003;49:727–731
  45. Purwosunu Y, Sekizawa A, Koide K, et al. Cell-free mRNA concentrations of plasminogen activator inhibitor-1 and tissue-type plasminogen activator are increased in the plasma of pregnant women with PET. Clin Chem. 2007;53(3):399–404
  46. Farina A, Sekizawa A, Purwosunu Y, et al. Quantitative distribution of a panel of circulating mRNA in PET versus controls. Prenat Diagn. 2006;26:1115–1120
  47. Zhong XY, Gebhardt S, Hillermann R, Tofa KC, Holzgreve W, Hahn S. Parallel assessment of circulatory fetal DNA and corticotropin-releasing hormone mRNA in early- and late-onset PET. Clin Chem. 2005;51:1730–1733
  48. Grancha S, Estellés A, Gilabert J, Chirivella M, España F, Aznar J. Decreased expression of PAI-2 mRNA and protein in pregnancies complicated with intrauterine fetal growth retardation. Thromb Haemost. 1996;76(5):761–767
  49. Zhong XY, Holzgreve W, Hoesli I, Hahn S. Circulatory corticotropin-releasing hormone mRNA concentrations are increased in women with preterm delivery but not in those who respond to tocolytic treatment. Clin Chem. 2005;51(3):635–636
  50. Tjoa ML, Oudejans CB, Van Vugt JM, Blankenstein MA, Van WI. Markers for presymptomatic prediction of PET and intrauterine growth restriction. Hypertens Pregnancy. 2004;23(2):171–189
  51. Diesch CH, Holzgreve W, Hahn S, Zhong XY. Comparison of activin A and cell-free fetal DNA levels in maternal plasma from patients at high risk for PET. Prenat Diagn. 2006;26(13):1267–1270
  52. Lindqvist P, Grennert L, Marsal K. Epidermal growth factor in maternal urine: a predictor of intrauterine growth restriction?. Early Hum Dev. 1999;56:143–150
  53. Smith GC, Shah I, Crossley JA, et al. Pregnancy-associated plasma protein A and alpha-fetoprotein and prediction of adverse perinatal outcome. Obstet Gynaecol. 2006;107(1):161–166
  54. Bartha JL, Illanes S, González-Bugatto F, Abdel-Fattah SA, Mizejewski GJ, Soothill PW. Maternal serum transformed alpha-fetoprotein levels in women with intrauterine growth retardation. Fetal Diagn Ther. 2007;22(4):294–298
  55. Audiberta F, Benchimola Y, Benattarb C, Champagnea C, Frydmana R. Prediction of PET or intrauterine growth restriction by second trimester serum screening and uterine Doppler velocimetry. Fetal Diagn Ther. 2005;20:48–53
  56. Honest H, Bachmann LM, Gupta JK, Kleijnen J, Khan KS. Accuracy of cervicovaginal fetal fibronectin test in predicting risk of spontaneous preterm labour: systematic review. BMJ. 2002;325:301–310
  57. Goldenberg RL, Iams JD, Mercer BM, et al. The Preterm Prediction Study: the value of new vs standard risk factors in predicting early and all spontaneous preterm labours. Am J Public Health. 1998;88:233–238
  58. Kurkinen-Raty M, Ruokonen A, Vuopala S, et al. Combination of cervical interleukin-6 and -8, phosphorylated insulin-like growth factor-binding protein-1 and transvaginal cervical ultrasonography in assessment of the risk of preterm labour. BJOG. 2001;108(8):875–881
  59. Ramsey PS, Tamura T, Goldenberg RL, et al. The preterm prediction study: elevated cervical ferritin levels at 22 to 24weeks of gestation are associated with spontaneous preterm delivery in asymptomatic women. Am J Obstet Gynecol. 2002;186(3):458–463
  60. Zhong XY, Holzgreve W, Hahn S. Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts. Mol Hum Reprod. 2002;8:864–870
  61. Lau TW, Leung TN, Chan LY, et al. Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem. 2002;48:2141–2146
  62. Estellés A, Gilabert J, Keeton M, et al. Altered expression of plasminogen activator inhibitor type 1 in placentas from pregnant women with preeclampsia and/or intrauterine fetal growth retardation. Blood. 1994 Jul 1;84(1):143–150
  63. Goldenberg RL, Klebanoff M, Carey JC, et al. Vaginal fetal fibronectin measurements from 8 to 22weeks' gestation and subsequent spontaneous preterm birth. Am J Obstet Gynecol. 2000;183:469–475
  64. Heath VC, Daskalakis G, Zagaliki A, Carvalho M, Nicolaides KH. Cervicovaginal fibronectin and cervical length at 23weeks of gestation: relative risk of early preterm delivery. Br J Obstet Gynaecol. 2000;107:1276–1281
  65. Nageotte MP, Casal D, Senyei AE. Fetal fibronectin in patients at increased risk for premature birth. Am J Obstet Gynecol. 1994;170:20–25
  66. Burrus DR, Ernest JM, Veille JC. Fetal fibronectin, interleukin-6, and C-reactive protein are useful in establishing prognostic subcategories of idiopathic preterm labor. Am J Obstet Gynecol. 1995;173:1258–1262
  67. Nageotte MP, Hollenbach KA, Vanderwahl BA, Hutch KM. Oncofetal fibronectin in patients at increased risk for preterm delivery. Am J Obstet Gynecol. 1992;166:274
  68. Peaceman AM, Andrews WW, Thorp JM, et al. Fetal fibronectin as a predictor of preterm birth in patients with symptoms: a multicenter trial. Am J Obstet Gynecol. 1997;177:13–18
  69. Iams JD, Casal D, McGregor JA, et al. Fetal fibronectin improves the accuracy of diagnosis of preterm labor. Am J Obstet Gynecol. 1995;173:141–145

PII: S1744-165X(07)00152-7

doi: 10.1016/j.siny.2007.12.006

Seminars in Fetal & Neonatal Medicine
Volume 13, Issue 2 , Pages 84-90 , April 2008

Article Tools

* Image Usage & Resolution