Summary
Since 1997 we are able to detect and quantify fetal dna in the blood of pregnant women. This pcr based technique has found a number of useful applications in current prenatal practice. In this way invasive tests with their inherent risks of iatrogenic pregnancy loss or excess blood group sensitisation can be avoided in more than half of the cases. The test also allows to restrict the administration of the scarce rhesus D immunoglobulin to those women who effectively carry an Rh D positive fetus.
Samenvatting
Sinds 1997 zijn we in staat om uit het bloed van de zwangere dna-sequenties te herkennen en te kwantificeren die specifiek zijn voor de foetus. Deze op pcr gebaseerde techniek heeft inmiddels in de praktijk van de prenatale diagnostiek en de erytrocyten-genotypering toepassingen gevonden. Invasieve tests als vlokkentests of vruchtwaterpuncties met de risico's op iatrogeen verlies van zwangerschap of boostering van sensibilisatie kunnen zo in globaal de helft van de situaties vermeden worden. Ook laat de test toe het schaarse anti-D-immunoglobuline in de zwangerschap te reserveren voor die zwangeren die daadwerkelijk een risico op immunisatie hebben, ongeacht of ze wel of niet levende kinderen hebben.
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Literatuur
Lo YM, Zhang J, Leung TN, et al. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64:218-24.
Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update 2005;11(1):59-67.
Birch L, English CA, O'Donoghue K, et al. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem 2005;51:312-20.
Rijnders RJP, Christiaens GCML, Bossers B, et al. Clinical applications of cell-free fetal DNA from maternal plasma. Obstet Gynecol 2004;103:157-64.
Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new non-invasive fetal RHD genotyping service. Transfusion 2002;42:1079-85.
Schoot CE van der, Tax GHM, Rijnders RJP, et al. Prenatal typing of Rh and Kell blood group system antigens: the edge of a watershed. Transfus Med Rev 2003;17:31-44.
Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for non-invasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
Alizadeh M, Bernard M, Danic B, et al. Quantitative assessment of hematopoietic chimerism after bone marrow transplantation by real-time quantitative polymerase chain reaction. Blood 2002;99:4618-25.
Rijnders RJP, Schoot CE van der, Bossers B, et al. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynec 2001;98(3):374-8.
Rijnders RJP, Luijt R van der, Peters EDJ, et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn 2003;23:1042-4.
Rijnders RJP, Christiaens GCML, Bossers B, Schoot CE van der. Het adrenogenitaal syndroom: klinische aspecten en neonatale screening. Ned Tijdschr Geneeskd 2002;146(36):1713-4.
Rijnders RJP, Christiaens GCML, Haas M de, Schoot CE van der. Foetaal DNA in maternaal bloed. Ned Tijdschr Geneeskd 2004;148(4):170-4.
González-González MC, García-Hoyos M, Trujillo MJ, et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn 2002;22:946-8.
Li Y, Holzgreve W, Page-Christiaens GCML, et al. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma – case report. Prenat Diagn 2004;24:896-8.
Amicucci P, Genneralli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000;46:301-2.
González-González MC, Trujillo MJ, Rodrígues de Alba M, et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn 2003;23:232-4.
Li Y, Di Naro E, Vitucci A, et al. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005;293(7):843-9.
Faas BH, Beuling EA, Christiaens GC, et al. Detection of fetal RHD-specific sequences in maternal plasma. Lancet 1998;352: 1196.
Lo YM. Fetal RhD genotyping from maternal plasma. Ann Med 1999;31:308-12.
Rouillac C, Puillandre P, Colin Y, et al. Fetal RhD typing using DNA from maternal plasma: a prediagnosis study on 182 cases. Vox Sang 2000;78:26.
Zhong XY, Holzgreve W, Hahn S. Detection of fetal Rhesus D and sex using fetal DNA from maternal plasma by multiplex polymerase chain reaction. Brit J Obstet Gynaecol 2000;107: 766-9.
Avent ND, Finning KM, Martin PG, Soothill PW. Prenatal determination of fetal blood group status. Vox Sang 2000;78 (suppl 2):155-62.
Zhong XY, Holzgreve W, Hahn S. Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma. Swiss Med Wkly 2001;131:70-4.
Zhong XY, Wang Y, Chen S, et al. Circulating fetal DNA in maternal plasma is increased in pregnancies at high altitude and is further enhanced by preeclampsia. Clin Chem 2004; 50:2403-5.
Cotter AM, Martin CM, O'Leary JJ, Daly SF. Increased fetal DNA in the maternal circulation in early pregnancy is associated with an increased risk of preeclampsia. Am J Obstet Gynecol 2004;191:515-20.
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Mw.dr. G.C.M.L. Page-Christiaens, afdeling Verloskunde, Universitair Medisch Centrum Utrecht. Dr. C.E. van der Schoot en dr. M. de Haas, Sanquin Research, locatie clb, en Landsteiner Laboratorium, Academisch Medisch Centrum, Amsterdam. Dr. R.J.P. Rijnders, Jeroen Bosch Ziekenhuis, locatie gzg, 's-Hertogenbosch.
Correspondentieadres: Mw.dr. G.C.M.L. Page-Christiaens, umcu, locatie wkz, KE.04.123.1, Postbus 85090, 3508 AB Utrecht
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Page-Christiaens, G.C.M.L., van der Schoot, C.E., Rijnders, R.J.P. et al. Nieuwe technieken in de obstetrie: detectie van foetaal dna in maternaal bloed. KIND 73, 118–122 (2005). https://doi.org/10.1007/BF03061558
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DOI: https://doi.org/10.1007/BF03061558