Zusammenfassung
In den letzten Jahren hat durch den raschen und gezielten Einsatz von innovativen molekularbiologischen Methoden wie der Polymerasekettenreaktion (PCR) und der Fluoresenz-in-situ-Hybridisierung (FISH) ein rasanter Fortschritt in der Pränataldiagnostik stattgefunden. Mittels dieser Methoden ist es möglich geworden, Chromosomenstörungen und monogene Erkrankungen auch in einzelnen Zellen zu eruieren, eine Prozedur, die eine Präimplantationsdiagnostik ermöglicht. Auch sind große Fortschritte in der nichtinvasiven und somit risikofreien Diagnostik von fetalen genetischen Merkmalen erzielt worden, vor allem durch die PCR-Untersuchung von zellfreier fetaler DNS im mütterlichen Plasma, womit jetzt die ersten kommerziellen klinischen Tests für das Erfassen des fetalen Rhesusstatus in Schwangerschaften mit einer Rhesuskonstellation angeboten werden.
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Literatur
Anker P, Stroun M (2000) Circulating DNA in plasma or serum. Medicina (B Aires)60: 699–702
Chen XQ, Stroun M, Magnenat JL et al. (1996) Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat Med 2: 1033–1035
Chiu RW, Murphy MF, Fidler C, Zee BC, Wainscoat JS, Lo YM (2001) Determination of RhD zygosity: comparison of a double amplification refractory mutation system approach and a multiplex real-time quantitative PCR approach. Clin Chem 47: 667–672
Cruz F de la, Shifrin H, Elias S et al. (1998) Low false-positive rate of aneuploidy detection using fetal cells isolated from maternal blood. Fetal Diagn Ther 13: 380
Cruz F de la, Shifrin H, Elias S et al. (1995) Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am J Obstet Gynecol 173: 1354–1355
Di Naro E, Ghezzi F, Vitucci A et al. (2000) Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradient. Mol Hum Reprod 6: 571–574
Eiben B, Trawicki W, Hammans W, Goebel R, Epplen JT (1998) A prospective comparative study on fluorescence in situ hybridization (FISH) of uncultured amniocytes and standard karyotype analysis. Prenat Diagn 18: 901–906
Hahn S, Sant R, Holzgreve W (1998) Fetal cells in maternal blood: current and future perspectives. Mol Hum Reprod 4: 515–521
Hahn S, Zhong XY, Troeger C, Burgemeister R, Gloning K, Holzgreve W (2000) Current applications of single-cell PCR. Cell Mol Life Sci 57: 96–105
Handyside AH, Pattinson JK, Penketh RJ, Delhanty JD, Winston RM, Tuddenham EG (1989) Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet 1: 347–349
Hardy K, Martin KL, Leese HJ, Winston RM, Handyside AH (1990) Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 5: 708–714
Heid CA, Stevens J, Livak KJ, Williams PM (1996) Real time quantitative PCR. Genome Res 6: 986–994
Holzgreve W (1997) Will ultrasound-screening and ultrasound-guided procedures be replaced by non-invasive techniques for the diagnosis of fetal chromosome anomalies?. Ultrasound Obstet Gynecol 9: 217–219
Holzgreve W, Garritsen HS, Ganshirt-Ahlert D (1992) Fetal cells in the maternal circulation. J Reprod Med 37: 410–418
Holzgreve W, Ghezzi F, Di Naro E, Ganshirt D, Maymon E, Hahn S (1998) Disturbed feto-maternal cell traffic in preeclampsia. Obstet Gynecol 91: 669–672
Holzgreve W, Hahn S (1999) Novel molecular biological approaches for the diagnosis of preeclampsia. Clin Chem 45: 451–452
Holzgreve W, Hahn S (2001) Prenatal diagnosis using fetal cells and free fetal DNA in maternal blood. Clin Perinatol 28: 353–365
Holzgreve W, Li JC, Steinborn A, Kulz T et al. (2001) Elevation in erythroblast count in maternal blood before the onset of preeclampsia. Am J Obstet Gynecol 184: 165–168
Hulett HR, Bonner WA, Barrett J, Herzenberg LA (1969) Cell sorting: automated separation of mammalian cells as a function of intracellular fluorescence. Science 166: 747–749
Kan YW, Dozy AM (1978) Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet 2: 910–912
Klinger K, Landes G, Shook D et al. (1992) Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51: 55–65
Leung TN, Zhang J, Lau TK, Chan LY, Lo YM (2001) Increased maternal plasma fetal DNA concentrations in women who eventually develop preeclampsia. Clin Chem 47: 137–139
Lo YM (1999) Fetal RhD genotyping from maternal plasma. Ann Med 31: 308–312
Lo YM, Corbetta N, Chamberlain PF et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485–487
Lo YM, Lau TK, Zhang J et al. (1999) Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 45: 1747–1751
Lo YM, Tein MS, Lau TK et al. (1998) Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62: 768–775
Mann K, Fox SP, Abbs SJ et al. (2001) Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 358: 1057–1061
Mouro I, Colin Y, Cherif-Zahar B, Cartron JP, Le Van Kim C (1993) Molecular genetic basis of the human Rhesus blood group system. Nat Genet 5: 62–65
Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H (1986) Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol 51: 263–273
Newton CR, Graham A, Heptinstall LE et al. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2503–2516
Oosterwijk JC, Knepfle CF, Mesker WE et al. (1998) Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood. Am J Hum Genet 63: 1783–1792
Perutz MF, Lehmann H (1968) Molecular pathology of human haemoglobin. Nature 219: 902–909
Radbruch A, Mechtold B, Thiel A, Miltenyi S, Pfluger E (1994) High-gradient magnetic cell sorting. Methods Cell Biol 42: 387–403
Ried T, Schrock E, Ning Y, Wienberg J (1998) Chromosome painting: a useful art. Hum Mol Genet 7: 1619–1626
Sänger F, Donelson JE, Coulson AR, Kossel H, Fischer D (1973) Use of DNA polymerase I primed by a synthetic oligonucleotide to determine a nucleotide sequence in phage fl DNA. Proc Natl Acad Sci USA 70: 1209–1213
Schrock E, du Manoir S, Veldman TJ et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273: 494–497
Schrock E, Veldman T, Padilla-Nash H et al. (1997) Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101: 255–262
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–517
Surbek DV, Tercanli S, Holzgreve W (2000) Transabdominal first trimester embryofetoscopy as a potential approach to early in utero stem cell transplantation and gene therapy. Ultrasound Obstet Gynecol 15: 302–307
Troeger C, Zhong XY, Burgemeister R et al. (1999) Approximately half of the erythroblasts in maternal blood are of fetal origin. Mol Hum Reprod 5: 1162–1165
Valenti C, Schutta EJ, Kehaty T (1968) Prenatal diagnosis of Down’s syndrome. Lancet 2: 220
Veldman T, Vignon C, Schrock E, Rowley JD, Ried T (1997) Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Nat Genet 15: 406–410
Verma L, Macdonald F, Leedham P, McConachie M, Dhanjal S, Hulten M (1998) Rapid and simple prenatal DNA diagnosis of Down’s syndrome. Lancet 352: 9–12
Wells D, Delhanty JD (2001) Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol Med 7: 23–30
Zhong XY, Burk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S (2000) Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn 20: 795–798
Zhong XY, Hahn S, Holzgreve W (2001 a) Prenatal identification of fetal genetic traits. Lancet 357: 310–311
Zhong XY, Holzgreve W, Hahn S (2001 b) Circulatory fetal and maternal DNA in pregnancies at risk and those affected by preeclampsia. Ann N Y Acad Sci 945: 138–140
Zimmermann B, Holzgreve W, Wenzel F, Hahn S (2002) Novel real-time quantitative PCR test for trisomy 21. Clin Chem 48: 362–363
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Hahn, S., Holzgreve, W. (2004). Pränatale Diagnostik: Molekularbiologische Methoden. In: Schneider, H., Husslein, P., Schneider, KT.M. (eds) Die Geburtshilfe. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18574-8_11
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