nach oben

Erschienen in:

2018 | Pränatale und perinatale Diagnostik | OriginalPaper | Buchkapitel

27. Invasive Pränataldiagnostik

verfasst von : Prof. Dr. med. A. Geipel

Erschienen in: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie

Verlag: Springer Berlin Heidelberg

Einloggen, um Zugang zu erhalten

Zusammenfassung

Die pränatale Chromosomendiagnostik ist in zahlreichen Labors als Routineverfahren etabliert. Zur Durchführung der pränatalen Analysen ist ein invasives Verfahren erforderlich. Die Amniozentese im II. Trimester stellt das weltweit am häufigsten eingesetzte Punktionsverfahren dar. Der optimale Zeitpunkt für die Durchführung der Amniozentese liegt nach 15+0 SSW. Die Chorionzottenbiopsie (CVS) steht als alternative Punktionsart für das I. Trimester zur Verfügung. Die eingriffsbedingen Verlustraten nach transabdominaler CVS und Amniozentese im II. Trimester sind mit ca. 0,2 % vergleichbar. Mit zunehmender Verbreitung und Akzeptanz der sonographischen und biochemischen Diagnostik sowie des Screenings mittels zellfreier DNA-Tests ist allerdings in vielen Ländern ein Trend zu einem Rückgang an invasiven Eingriffen insgesamt zu beobachten.

Agarwal K, Alfirevic Z (2012) Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies – a systematic review. Ultrasound Obstet Gynecol 40: 128–134

Akolekar R, Beta J, Picciarelli G, Ogilvie C, D’Antonio F (2015) Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 45: 16–26

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

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

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

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

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

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

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

Corrado F, Cannata ML, La Galia T, Magliarditi M, Imbruglia L, D’anna R, Carlo Stella N (2012) Pregnancy outcome following mid-trimester amniocentesis. J Obstet Gynaecol 32: 117–119

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

Enzensberger C, Pulvermacher C, Degenhardt J, Kawacki A, Germer U, Gembruch U, Krapp M, Weichert J, Axt-Fliedner R (2012) Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling. Ultraschall Med 33: E75–79

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

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

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

Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH (2015) Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 45: 249–266

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

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

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

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

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

Kähler C, Gembruch U, Heling KS, Henrich W, Schramm T (2013) DEGUM guidelines for amniocentesis and chorionic villus sampling. Ultraschall Med 34: 435–440

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

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

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

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

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

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

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

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

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 2000–2009. Prenat Diagn 31: 765–772

Luu M, Cantatore-Francis JL, Glick SA (2010) Prenatal diagnosis of genodermatoses: current scope and future capabilities. Int J Dermatol 49: 353–361

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

Manegold-Brauer G, Berg C, Flöck A, Rüland A, Gembruch U, Geipel A (2015) Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Arch Gynecol Obstet 292: 543–548

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

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

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

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

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

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

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

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

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

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

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

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

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

Pitukkijronnakorn S, Promsonthi P, Panburana P, Udomsubpayakul U, Chittacharoen A (2011) Fetal loss associated with second trimester amniocentesis. Arch Gynecol Obstet 284: 793–797

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

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

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

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

SMFM (Society for Maternal-Fetal Medicine), Berry SM, Stone J, Norton ME, Johnson D, Berghella V (2013) Fetal blood sampling. Am J Obstet Gynecol 209: 170–180

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

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

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

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 9: 861–864

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

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

Towner D, Currier RJ, Lorey FW, Cunningham GC, Greve LC (2007) Miscarriage risk from amniocentesis performed for abnormal maternal serum screening. Am J Obstet Gynecol;196: 608.e1–5

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

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

Warsof SL, Larion S, Abuhamad AZ (2015) Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn 35: 972–979

Titel: Invasive Pränataldiagnostik
verfasst von: Prof. Dr. med. A. Geipel
Verlag: Springer Berlin Heidelberg
Buch: Ultraschalldiagnostik in Geburtshilfe und Gynäkologie
Print ISBN: 978-3-662-53661-2

Electronic ISBN: 978-3-662-53662-9

Copyright-Jahr: 2018
DOI: https://doi.org/10.1007/978-3-662-53662-9_27

Neu im Fachgebiet Gynäkologie und Geburtshilfe

17.04.2024 | Postoperative nausea and vomiting | Nachrichten

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

27. Invasive Pränataldiagnostik

Zusammenfassung

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hochrisiko-Eingriffe für postoperative Übelkeit

Adjuvante Brustkrebstherapie: Doppelt hält besser

Manche Gestagene können das Risiko für Meningeome erhöhen

Stillende Frauen haben geringeres kardiovaskuläres Risiko

Update Gynäkologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Zusammenfassung

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hochrisiko-Eingriffe für postoperative Übelkeit

Adjuvante Brustkrebstherapie: Doppelt hält besser

Manche Gestagene können das Risiko für Meningeome erhöhen

Stillende Frauen haben geringeres kardiovaskuläres Risiko

Update Gynäkologie