Zusammenfassung
Pränatale Medizin statt nur Pränatale Diagnostik war schon 1987 der Titel des von uns herausgegebenen Buches Im Springer-Verlag, da sich bereits damals die wachsenden Möglichkeiten der vorgeburtlichen Therapie abzeichneten und auch aus ethischen Gründen eine reine Konzentration auf die Diagnostik oft unkorrigierbarer Anomalien nicht das eigentliche Ziel der Pränatalen Medizin ist. Kaum ein Gebiet der Medizin hat in den letzten Jahren eine raschere Entwickelung erlebt als dieses Gebiet, weil dabei Immer zwei große Fortschrittsbereiche zusammenkamen und noch heute kommen: die Genetik mit ihren raschen Entwicklungen im Labor einerseits und die Bildgebung mit ihren daraus resultierenden Möglichkeiten gezielter Eingriffe in utero andererseits.
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Literatur
Amicucci P, Gennarelli M, Novell! G et al. (2000) Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem Feb;46(2):301–2
Anker P, Mulcahy H, Chen XQ et al. (1999) Detection of circulating tumour DNA in the blood (plasma/serum) of cancer patients. Cancer Metastasis Rev 18(1 ):65–73
Babochkina T, Mergenthaler S, De Napoli G et al. (2005) Numerous erythroblasts in maternal blood are impervious to fluorescent in situ hybridization analysis, a feature related to a dense compact nucleus with apoptotic character. Haematologica Jun;90(6):740–5
Bianchi DW, Flint AF, Pizzimenti MF et al. (1990) Isolation of fötal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sei USA, May;87(9):3279–83
Bianchi DW, Simpson JL, Jackson LG et al. (2002) Fötal gender and aneuploidy detection using fötal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fötal Cell Isolation Study Prenat Diagn, Jul;22(7):609–15
Bitzer J, Tschudin S, Holzgreve W (2007) Kommunikative Fertigkeiten bei der pränatalen Beratung schwangerer Frauen. Praxis, 96, 629–636
Brambati B, Oldrini A, Aladerum SA (1983) Methods of chorionic villi sampling in first trimester fetal diagnosis. In: Albertini A, Rosignani PG (ed) Progress in perinatal medicine Esperta Medica, 275, Amsterdam
Bussel JB, Zabusky MR, Berkowitz RL et al. (1997) Fetal Alloimmune thrombocytopenia. New Engl J Med, 337, 22–6
Canadian Collaborative CVS Amniocentesis Clinical Trial Group (1989) Multicentre randomised clinical trial of cho-rion villus sampling and amniocentesis. First report. Lancet, 1,1–6
Chaudhuri JP, Zang KD (1976) Mitosis of maternal lymphocytes in the presence of fötal cells: possible implication in prenatal diagnosis from fötal blood samples. Hum Genet, Dec 15;34(3):307–10
Chiu RW, Chan KC, Gao Y et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sei USA, Dec 23; 105(51 ):20458–63
Daffos F, Capella-Pavlovsky M, Forestier F (1983) Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Prenat Diagn, 3, 271–277
Dargent D, Liaras J (1975) The fötal sex. Its prenatal diagnosis by the search of »fluorescent corpuscle« lymphocytes circulating in the maternal blood. Nouv Presse Med, Sep 27;4(31):2270
Ekelund CK, Jorgensen FS, Petersen OB et al. (2008) Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study. BMJ, 337
Fan HC, Blumenfeld YJ, Chitkara U et al. (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sei USA, Oct 21 ;105(42):16266–71
Flake AW, Puck JM, Almieda-Porada G et al (1996) Successful in utero correction of X-Iinked recessive severe combined immuno-deficiency (X-SCID): fetal intraperitoneal transplantation of CD 34 enriched paternal bone marrow cells (EPPBMC). N Engl J Med, 335,1806–10
Flake AW, Zanjani ED (1999) In utero hemopoietic stem cell transplantation: Ontogenic opportunities and biologic barriers. Blood, 94, 2179–91
Fayoux P, Hosana G, Devisme L et al. (2010) Neonatal tracheal changes following in utero fetoscopic balloon tra-cheal occlusion in severe congenital diaphragmatic hernia. J Pediatr Surg, 45,4, 687–92
Ganshirt-Ahlert D, Burschyk M, Garritsen HS et al. (1992) Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood. Am J Obstet Gynecol, May;166(5):1350–5
Gasiorek-Wiens A, Tercanli S, Kozlowski P et al. (2009) German Speaking Down Syndrome Screening Group. Screening for trisomy 21 by fetal nuchal translucency and nasal bone length. 18,6, 645–648, xxxx.
Gembruch U, Holzgreve W (2001) The fetus with nonimmune hydrops fetal is. In: Harrison MR, Evans MI, AdzickNS, Holzgreve W (ed) The unborn patient. The art and science of fetal therapy. 3rd edn. WB Saunders, Philadelphia, 525–582
Golbus MS, Loughman WD, Epstein CJ et al. (1979) Prenatal genetic diagnosis in 3000 amniocenteses. N Engl J Med 300,157
Hahn S, Huppertz B, Holzgreve W (2005) Fetal cells and cell free fetal nucleic acids in maternal blood: new tools to study abnormal placentation? Placenta, Aug;26(7):515–26
Hahnemann H (1974) Early prenalal diagnosis. A study of biopsy techniques and cell culturing from extraembryo-nic membranes. Clin Genet 6, 294–306
Hansmann M, Knoerr K(1978) Amniocentese in der Frühschwangerschaft-Technik, Probleme. In: Saling E, Dudenhausen J (Hrsg) Perinatale Medizin, Bd 7, 305, Thieme, Stuttgart New York
Harrison MR, Evans M, Adzick S et al. (2001) The Unborn Patient. The Art and Science of Fetal Therapy. WB Saunders Co, Philadelphia, Third Edition
Hartog M, Lapaire O, Holzgreve W (2010) Die Rolle der feto-matemale Transfusion für Präeklampsie. Gynäkol Prax 34, 283–90
Holzgreve W, Hansmann M (1954) Erfahrungen mit der »Free Hand Needle«-Technik bei 3215 Amniozentesen im zweiten Trimenon zur pränatalen Diagnostik. Gynäkologe, 17, 77–82,1984.12. Westin, B: Lancet; 2, 872
Holzgreve W, Golbus MS (1984) Prenatal Diagnosis of OrnithineTranscarbamylase Deficiency Utilizing Fetal Liver.Am J Hum Genet, 36, 320–328
Holzgreve W (1987) Pränatale Medizin. Springer-Verlag, Berlin, Heidelberg
Holzgreve W, Miny P (1990) Transabdominale und transzervikale Chorionbiopsien. Indikationen, Techniken und bisherige Ergebnisse. Gynäkologe, 23, 261–265
Holzgreve W, Miny P, Gerlach B et al. (1990) Benefits of placental biopsies for rapid karyotyping in the second and third trimester (late chorionic villus sampling) in high-risk pregnancies. Am J Obst Gynecol 162,1188–1192
Holzgreve W, Miny P (1999) Genetic Aspects of Fetal Disease. Sem Perinatol, 13, 260–77
Holzgreve W, Miny P, Evans I (1999) Genitourinary malformations. In: James DK, Steer PJ, Weiner CP et al. (ed) High Risk Pregnancy. Management options. 2nd edn. WB Saunders, Philadelphia, 427–442
Holzgreve W, Li JJ, Steinborn A et al. (2001) Elevation in erythroblast count in maternal blood before the onset of preeclampsia. Am J Obstet Gynecol Jan;184(2):165–8
Holzgreve W, Hahn S (2001) Prenatal Diangosis Using Fetal Cells and Free Fetal DNA in Maternal Blood. Clinics in Perinatology 28, 2, 353–65
Holzgreve W, Miny P, Hahn S (2004) Individuelle Risikospezifizierung für Chromosomenanomalien in der Frühschwangerschaft. Die neuen gemeinsamen Empfehlungen für das Erstrimesterscreening. Gynäkologe 2,12–14
Holzgreve W (2006) Ethik in der pränatalen Medizin – geht sie voran oder läuft sie hinterher? Therapeutische Umschau 63,681–2
Kohl T, Tchatcheva K, Weinbach J et al. (2010) Partial amniotic carbon dioxide insufflation (PACi) during minimally invasive fetoscopic surgery: early clinical experience in humans. Surg Endosc 24, 2,432–44
Knoerr K, Jonatha W, Knoerr-Gaertner H (1973) Die genetische Risikoschwangerschaft. Geburtshilfe Frauenheilkd 33,617,82
Li Y, Page-Christiaens GC, Gille JJ et al. (2007) Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn Jan;27(1):11–7
Li Y, Finning K, Daniels G et al. (2008) Noninvasive genotyping fetal Kell blood group (KEL1) using cell-free fetal DNA in maternal plasma by MALDI-TOF mass spectrometry. Prenat Diagn Mar;28(3):203–8
Li Y, Altarescu G, Renbaum P et al. (2009) Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies. Reprod Biomed Online Nov;19(5):714–20
Lo YM, Corbetta N, Chamberlain PF et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet Aug 16;350(9076):485–7
Lo YM, Lun FM, Chan KC et al. (2007) Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sei U S A Aug 7;104(32):13116–21
Lo YM, Tsui NB, Chiu RW et al. (2007) Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. NatMed Feb;13(2):218–23
Lo YM (2008) Fötal nucleic acids in maternal plasma. Ann N Y Acad Sei Aug;1137:140–3
Lo YM, Chiu RW (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem Mar;54(3):461–6
Lun FM, Tsui NB, Chan KC et al. (2008) Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sei U S A Dec 16;105(50):19920–5
Mandel P, Metais P (1948) Les acides nucleiques du plasma sanguin chez I'homme. CR Acad Sei Paris (142):241–3
Miltenyi S, Müller W, Weichel W et al. (1990) High gradient magnetic cell separation with MACS. Cytometry 11(2):231–8
Moise KJR (2001) The fetus with immune hydrops. In: Harrison MR, Evans Ml, Adzick NS, Holzgreve W (ed)The unborn patient. The art and science of fetal therapy. 3rd edn. WB Saunders, Philadelphia, 513–523
Mujezinovic F, Alfirevic Z (2007) Sampling of systematic review. Obstet Gynecol 110, 687–94
Murken JD, Stengel-Rutkowski S (Hrsg) (1979) Pränatale Diagnostik. Enke, Stuttgart
Nicolaides KH, Soothill PW, Rodeck CH et al. (1986) Rh disease: intravascular fetal blood transfusion by cordocentesis. Fetal Ther 1,185–92
Paek B, Strauss A, Hasbargen i et al. (1999) Invasive fetale Therapie. Gynäkologe 32, 866–78
Rauskolb R (1982) Die Punktion der Amnionhöhle. Diagnostik 15,176
Rhoads GG, Jackson LG, Schlesselmann SE et al. (1989) The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 320, 609–617
Schoeberlein A, Schatt S, Troeger C et al. (2004) Engraftment kinetics of human cord blood and murine fetal liver stem cells following in utero transplantation into immunodefident mice. Stem Cells Dev 13, 6,677–84
Schoeberlein A, Holzgreve W, Dudler L et al. (2005) Tissue-specific engraftment after in utero transplantation of allogeneic mesenchymal stem cells into sheep fetuses. Am J Obstet Gynecol 192,4,1044–52
Snijders RJM, Noble P, Sebire N et al. (1998) UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Lancet 351,343–343
Sohn C, Holzgreve W (1995) Ultraschall in Gynäkologie und Geburtshilfe. Thieme, Stuttgart
Steele MW, Breg WR (1966) Chromosome analysis of human amniotic fluid cells. Lancet 1, 383
Stroun M, Anker P, Lyautey J et al. (1987) Isolation and characterization of DNA from the plasma of cancer patients.Eur J Cancer Clin Oncol Jun;23(6):707–12
Tan EM, Schur PH, Carr RI et al. (1966) Deoxybonucleic acid (DNA) and antibodies to DNA in the serum of patients with systemic lupus erythematosus. J Clin Invest Nov;45(11):1732–40
Tang M, Lee M, Mohsenian F et al. (2009) Identification of RNA-SNP markers for noninvasive prenatal diagnosis (NIPD) of T18 and T13 American Journal of Obstetrics and Gynecology -The Pregnancy Meeting, Society for Maternal-Fetal Medicine: 2009 29th Annual Meeting 2008 December 2008, ;Volume 199, Issue 6, Supplement 1, (Society for Maternal-Fetal Medicine: 2009 29th Annual Meeting):Page S163
Troeger C, Zhong XY, Burgemeister R et al. (1999) Approximately half of the erythroblasts in maternal blood are of fötal origin. Mol Hum Reprod Dec;5(12):1162–5
Valenti C, Schutta EJ, Kehaty T (1968) Prenatal diagnosis of Down syndrome. Lancet 2, 220
Verp MS, Gerbie AB (1981) Amniocentesis for prenatal diagnosis. Clin Obstet Gynecol 24,1007
Zimmermann B, Holzgreve W, Zhong XY et al. (2002) Inability to clonally expand fetal progenitors from maternal blood. Fetal DiagnTher Mar-Apr;17(2):97–100
Zhong XY, Hahn S, Holzgreve W (2001) Prenatal identification of fetal genetic traits. Lancet Jan 27;357(9252):310–1
Zhong XY, Holzgreve W, Hahn S (2001) 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 Feb 10;131(5–6-):70–4
Zhong XY, Holzgreve W, Hahn S (2001) Circulatory fetal and maternal DNA in pregnancies at risk and those affected by preeclampsia. Ann N Y Acad Sei Sep;945:138–40
Zhong XY, Holzgreve W, Hoesli I et al. (2005) Circulatory corticotropin-releasing hormone mRNA concentrations are increased in women with preterm delivery but not in those who respond to tocolytic treatment. Clin ChemMar;51(3):635–6
Zhong XY, Holzgreve W, Hahn S (2002) The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens Pregnancy 21 (1 ):77–83
Zhong XY, Laivuori H, Livingston JC (2001) Elevation of both maternal and fetal extracellular circulating deoxyri-bonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol Feb;184(3):414–9
Zhong XY, Holzgreve W, Hahn S (2006) Direct quantification of fetal cells in maternal blood by real-time PCR. Prenat Diagn Sep;26(9): 850–4
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Holzgreve, W., Zhong, X.Y. (2011). Pränatale Medizin – Entwicklung von der invasiven zur nichtinvasiven Diagnostik und von der Diagnose zur Therapie. In: 125 Jahre Deutsche Gesellschaft für Gynäkologie und Geburtshilfe. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15012-8_16
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