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Invasive Pränataldiagnostik

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Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

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Zusammenfassung

Vor mehr als 40 Jahren erschienen die ersten Berichte über eine erfolgreiche Chromosomendiagnostik aus angezüchteten Fruchtwasserzellen. Seit Beginn der siebziger Jahre wurde die pränatale Chromosomendiagnostik in zahlreichen Labors als Routineverfahren etabliert und stellt auch heute noch den Hauptanteil der durchgeführten pränatalen Analysen dar (Kap. 27, Genetik). Dabei ist die Amniozentese im II. Trimenon das weltweit am häufigsten eingesetzte Punktionsverfahren. Üblicherweise liegen die Ergebnisse erst nach der 16. SSW vor, sodass die Chorionzottenbiopsie (″chorionic villous sampling″, CVS) als alternative Punktionsart für das I. Trimenon entwickelt wurde.

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Literatur

  • Agarwal K, Alfirevic Z (2011) Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies – a systematic review. Ultrasound Obstet Gynecol Nov 28. doi: 10.1002/uog.10152. [Epub ahead of print]

    Article  CAS  Google Scholar 

  • Alfirevic Z, Pilu G (2009) Antibiotic prophylaxis for amniocentesis. Prenat Diagn 29:1094

    Article  Google Scholar 

  • Alfirevic Z, Sundberg K, Brigham S (2003) Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev CD003252:

    Google Scholar 

  • Athanasiadis AP, Pantazis K, Goulis DG, Chatzigeorgiou K, Vaitsi V, Assimakopoulos E, Tzevelekis F, Tsalikis T, Bontis JN (2009) Comparison between 20G und 22G needle for second trimester amniocentesis in terms of technical aspects and short-term complications. Prenat Diagn 29:761–765

    Article  Google Scholar 

  • Brambati B, Tului L (2005) Chorionic villus sampling and amniocentesis. Curr Opin Obstet Gynecol 17:197–201

    Article  Google Scholar 

  • Caughey AB, Hopkins LM, Norton ME (2006) Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 108:612–616

    Article  Google Scholar 

  • Cederholm M, Haglund B, Axelsson O (2005) Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG 112:394–402

    Article  Google Scholar 

  • Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D’Alton ME (2006) Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 108:1067–1072

    Article  Google Scholar 

  • Fassihi H, McGrath JA (2010) Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin 28:231–237 (viii)

    Article  CAS  Google Scholar 

  • Ferrazzi E (2010) Antibiotic prophylaxis before second-trimester genetic amniocentesis. Prenat Diagn 30:189–190

    Article  Google Scholar 

  • Geipel A, Daiss T, Katalinic A, Germer U, Kohl T, Krapp M, Gembruch U, Berg C (2007) Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center. Ultraschall Med 28:67–70

    Article  CAS  Google Scholar 

  • Ghidini A, Sepulveda W, Lockwood CJ, Romero R (1993) Complications of fetal blood sampling. Am J Obstet Gynecol :1339–1344

    Article  CAS  Google Scholar 

  • Giorlandino C, Cignini P, Cini M, Brizzi C, Carcioppolo O, Milite V, Coco C, Gentili P, Mangiafico L, Mesoraca A, Bizzoco D, Gabrielli I, Mobili L (2009) Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial. Prenat Diagn 29:606–612

    Article  CAS  Google Scholar 

  • Gramellini D, Fieni S, Casilla G, Raboni S, Nardelli GB (2007) Mid-trimester amniocentesis and antibiotic prophylaxis. Prenat Diagn 27:956–959

    Article  Google Scholar 

  • Grobman WA, Auger M, Shulman LP, Elias S (2009) The association between chorionic villus sampling and preeclampsia. Prenat Diagn 29:800–803

    Article  Google Scholar 

  • Hagen A, Entezami M, Gasiorek-Wiens A, Albig M, Becker R, Knoll U, Stumm M, Wegner RD (2011) The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age. Ultraschall Med 32:302–306

    Article  CAS  Google Scholar 

  • Jenkins TM, Wapner RJ (2000) The challenge of prenatal diagnosis in twin pregnancies. Curr Opin Obstet Gynecol 12:87–92

    Article  CAS  Google Scholar 

  • Karasahin E, Alanbay I, Ercan M, Yenen MC, Dede M, Baser I (2009) Simple, cheap, practical and efficient amniocentesis training model made with materials found in every obstetrics clinic. Prenat Diagn 29:1069–1070

    Article  Google Scholar 

  • Kasperski SB, Brennan AM, Corteville JE, Finkel RS, Golden J, Johnson MP, Wilson RD (2008) Utility of fetal muscle biopsy for diagnosis of nemaline myopathy. Fetal Diagn Ther 24:400–404

    Article  Google Scholar 

  • Khalil A, Akolekar R, Pandya P, Syngelaki A, Nicolaides K (2010) Chorionic villus sampling at 11 to 13 weeks of gestation and hypertensive disorders in pregnancy. Obstet Gynecol 116:374–380

    Article  Google Scholar 

  • Kong CW, Leung TN, Leung TY, Chan LW, Sahota DS, Fung TY, Lau TK (2006) Risk factors for procedure-related fetal losses after mid-trimester genetic amniocentesis. Prenat Diagn 26:925–930

    Article  Google Scholar 

  • Kozlowski P, Knippel A, Stressig R (2008) Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20460 cases. Ultraschall Med 29:165–172

    Article  CAS  Google Scholar 

  • Kulkarni ML, Vengalath S (1995) Prenatal diagnosis of genetic disorders. Indian Pediatr 32:1229–1238

    CAS  PubMed  Google Scholar 

  • Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF (2000) Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenat Diagn 20:765–768

    Article  CAS  Google Scholar 

  • Liao C, Wei J, Li Q, Li L, Li J, Li D (2006) Efficacy and safety of cordocentesis for prenatal diagnosis. Int J Gynaecol Obstet 93:13–17

    Article  Google Scholar 

  • Lichtenbelt KD, Alizadeh BZ, Scheffer PG, Stoutenbeek P, Schielen PC, Page-Christiaens LC, Schuring-Blom GH (2011) Trends in the utilization of invasive prenatal diagnosis in The Netherlands during. Prenat Diagn 31:765–772

    Article  Google Scholar 

  • Lo YM (2009) Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 116:152–157

    Article  CAS  Google Scholar 

  • Luu M, Cantatore-Francis JL, Glick SA (2010) Prenatal diagnosis of genodermatoses: current scope and future capabilities. Int J Dermatol 49:353–61

    Article  Google Scholar 

  • Mandelbrot L, Jasseron C, Ekoukou D, Batallan A, Bongain A, Pannier E, Blanche S, Tubiana R, Rouzioux C, Warszawski J (2009) ANRS French Perinatal Cohort (EPF). Amniocentesis and mother-to-child human immunodeficiency virus transmission in the Agence Nationale de Recherches sur le SIDA et les Hépatites Virales French Perinatal Cohort. Am J Obstet Gynecol 200:160.e1–160.e9

    Article  Google Scholar 

  • Müngen E, Tütüncü L, Muhcu M, Yergök YZ (2006) Pregnancy outcome following second-trimester amniocentesis: a case-control study. Am J Perinatol 23:25–30

    Article  Google Scholar 

  • Mujezinovic F, Alfirevic Z (2007) Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 110:687–694

    Article  Google Scholar 

  • Muller F, Thibaud D, Poloce F, Gelineau MC, Bernard M, Brochet C, Millet C, Rèal JY, Dommergues M (2002) Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers. Prenat Diagn 22:1036–1039

    Article  Google Scholar 

  • Murotsuki J, Uehara S, Okamura K, Yajima A, Oura T, Miyabayashi S (1994) Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency. Am J Perinatol 11:160–162

    Article  CAS  Google Scholar 

  • Nadel AS, Likhite ML (2009) Impact of first-trimester aneuploidy screening in a high-risk population. Fetal Diagn Ther 26:29–34

    Article  Google Scholar 

  • Nevo Y, Shomrat R, Yaron Y, Orr-Urtreger A, Harel S, Legum C (1999) Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy. Prenat Diagn 19:921–926

    Article  CAS  Google Scholar 

  • Nicolaides K, Brizot Mde L, Patel F, Snijders R (1994) Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10–13 weeks’ gestation. Lancet 344:435–439

    Article  CAS  Google Scholar 

  • Nicolini U, Spelzini F (2001) Invasive assessment of fetal renal abnormalities: urinalysis, fetal blood sampling and biopsy. Prenat Diagn 21:964–969

    Article  CAS  Google Scholar 

  • Nizard J (2010) Amniocentesis: technique and education. Curr Opin Obstet Gynecol 22:152–154

    Article  Google Scholar 

  • Nizard J, Duyme M, Ville Y (2002) Teaching ultrasound-guided invasive procedures in fetal medicine: learning curves with and without an electronic guidance system. Ultrasound Obstet Gynecol 19:274–277

    Article  CAS  Google Scholar 

  • Odibo AO, Dicke JM, Gray DL, Oberle B, Stamilio DM, Macones GA, Crane JP (2008) Evaluating the rate and risk factors for fetal loss after chorionic villus sampling. Obstet Gynecol b 112:813–819

    Article  Google Scholar 

  • Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP (2008) Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center’s 16-year experience. Obstet Gynecol a 111:589–595

    Article  Google Scholar 

  • Odibo AO, Singla A, Gray DL, Dicke JM, Oberle B, Crane J (2010) Is chorionic villus sampling associated with hypertensive disorders of pregnancy? Prenat Diagn 30:9–13

    PubMed  Google Scholar 

  • Papantoniou N, Daskalakis G, Anastasakis E, Marinopoulos S, Mesogitis S, Antsaklis A (2008) Increasing the noninvasive management of rhesus isoimmunization. Int J Gynaecol Obstet 101:281–284

    Article  Google Scholar 

  • Papantoniou NE, Daskalakis GJ, Tziotis JG, Kitmirides SJ, Mesogitis SA, Antsaklis AJ (2001) Risk factors predisposing to fetal loss following a second trimester amniocentesis. BJOG 108:1053–1056

    CAS  PubMed  Google Scholar 

  • Philip J, Silver RK, Wilson RD, Thom EA, Zachary JM, Mohide P, Mahoney MJ, Simpson JL, Platt LD, Pergament E, Hershey D, Filkins K, Johnson A, Shulman LP, Bang J, MacGregor S, Smith JR, Shaw D, Wapner RJ, Jackson LD, NICHD EATA Trial Group (2004) Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol 103:1164–1173

    Article  CAS  Google Scholar 

  • Quintero R, Hale-Burnett E, Bornick PW, Gilbert-Barness E (2007) Fetal laryngoscopy and lung biopsy in a case of bilateral lethal congenital cystic adenomatoid malformation of the lung. Fetal Pediatr Pathol 26:229–234

    Article  Google Scholar 

  • Rochon M, Stone J (2003) Invasive procedures in multiple gestations. Curr Opin Obstet Gynecol 15:167–175

    Article  Google Scholar 

  • Royal College of Obstetricians and Gynaecologists (2010) Amniocentesis and chorion villous sampling, Green-top Guideline No 8

    Google Scholar 

  • Shimizu A, Akiyama M, Ishiko A, Yoshiike T, Suzumori K, Shimizu H (2005) Prenatal exclusion of harlequin ichthyosis potential pitfalls in the timing of the fetal skin biopsy. Br J Dermatol 153:811–814

    Article  CAS  Google Scholar 

  • Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27:1–7

    Article  Google Scholar 

  • Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B (1986) Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1:1287–1293

    Article  CAS  Google Scholar 

  • Tabor A, Vestergaard CH, Lidegaard (2009) Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 34:19–24

    Article  CAS  Google Scholar 

  • Tangshewinsirikul C, Wanapirak C, Piyamongkol W, Sirichotiyakul S, Tongsong T (2011) Effect of cord puncture site in cordocentesis at mid-pregnancy on pregnancy outcomes. Prenat Diagn 10:1002–2790

    Google Scholar 

  • The Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group (1998) Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 351:242–247

    Article  Google Scholar 

  • Tongprasert F, Srisupundit K, Luewan S, Phadungkiatwattana Pranpanus S, Tongson T (2010) Midpregnancy cordocentesis training of maternal-fetal medicine fellows. Ultrasound Obstet Gynecol 36:65–68

    Article  CAS  Google Scholar 

  • Tongsong T, Wanapirak C, Kunavikatikul C, Sirichotiyakul S, Piyamongkol W, Chanprapaph P (2000) Cordocentesis at 16–24 weeks of gestation: experience of 1,320 cases. Prenat Diagn 20:224–228

    Article  CAS  Google Scholar 

  • Tongsong T, Wanapirak C, Sirivatanapa P, Piyamongkol W, Sirichotiyakul S, Yampochai A (1998) Amniocentesis-related fetal loss: a cohort study. Obstet Gynecol 92:64–67

    Article  CAS  Google Scholar 

  • Vestergaard C, Lidegaard , Tabor A (2009) Invasive prenatal diagnostic practice in Denmark 1996 to 2006. Acta Obstet Gynecol Scand 88:362–365

    Article  Google Scholar 

  • Ville Y, Cooper M, Revel A, Frydman R, Nicolaides KH (1995) Development of a training model for ultrasound-guided invasive procedures in fetal medicine. Ultrasound Obstet Gynecol 5:180–183

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Abt. für Geburtshilfe und Pränatale Medizin, Universitätsklinikum Bonn, Zentrum für Geburtshilfe und Frauenheilkunde, Sigmund-Freud-Straße 25, 53127, Bonn, Deutschland

    Annegret Geipel Prof. Dr. med.

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  1. Annegret Geipel Prof. Dr. med.
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Editors and Affiliations

  1. Frauenheilkunde, Universitätsklinikum Bonn Zentrum für Geburtshilfe und, Bonn, Germany

    Ulrich Gembruch

  2. Klinik für Geburtshilfe und Pränatalmedizin, Universitätsklinikum Hamburg Eppendorf, Hamburg, Germany

    Kurt Hecher

  3. Praxis f. Frauenhlkd. u. Pränataldiag., Salzburg, Austria

    Horst Steiner

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Geipel, A. (2013). Invasive Pränataldiagnostik. In: Gembruch, U., Hecher, K., Steiner, H. (eds) Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29633-8_26

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  • DOI: https://doi.org/10.1007/978-3-642-29633-8_26

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