Hebamme 2018; 31(05): 304-313
DOI: 10.1055/a-0729-5280
Schwangerschaft
Fortbildung
© Georg Thieme Verlag KG Stuttgart · New York

Aktuelle Pränataldiagnostik: ein Überblick

Friderike Fornoff
Further Information

Publication History

Publication Date:
31 October 2018 (online)

Neue Erkenntnisse im Bereich der medizinischen Forschung führen auch in der Pränataldiagnostik zu immer mehr Möglichkeiten. Mehr Wissen über das Ungeborene kann zur Gesundheit von Kind und Mutter beitragen. Aber nicht immer. Gelingt es nicht, das Wissen richtig zu deuten, so führt mehr Wissen zu mehr Unsicherheit. Dies kann eine Schwangerschaft nachhaltig belasten oder zu unnötigen Interventionen bei Mutter und Kind führen. Pränataldiagnostik ist daher sowohl fachlich als auch ethisch hoch komplex. Wer Paare in der Schwangerschaft betreut und berät, sollte die nachfolgend vorgestellten pränataldiagnostischen Verfahren kennen, einordnen und erklären können.

 
  • Literatur

  • 1 Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017; Sep 4 9: CD003252 .
  • 2 Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol. 2007; Sep; 110 (03) : 687-94 . Review. Erratum in: Obstet Gynecol. 2008 Mar;111(3):779
  • 3 Mastroiacovo P, Botto LD, Cavalcanti DP, Lalatta F, Selicorni A, Tozzi AE, Baronciani D, Cigolotti AC, Giordano S, Petroni F. , et al. Limb anomalies following chorionic villus sampling: a registry based case-control study. Am J Med Genet. 1992; Dec 1 ; 44 (06) : 856-64 . Review.
  • 4 Dolk H, Bertrand F, Lechat MF. Chorionic villus sampling and limb abnormalities. The EUROCAT Working Group. Lancet. 1992; Apr 4; 339 (8797): 876-7 .
  • 5 Jackson LG, Zachary JM, Fowler SE, Desnick RJ, Golbus MS, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Black S. , et al. A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med. 1992; Aug 27 ; 327 (09) : 594-8 .
  • 6 Brambati B, Terzian E, Tognoni G. Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods. Prenat Diagn. 1991; May ; 11 (05) : 285-93 .
  • 7 Silver RK, MacGregor SN, Muhlbach LH, Kambich MP, Ragin A. A comparison of pregnancy loss between transcervical and transabdominal chorionic villus sampling. Obstet Gynecol. 1994; May ; 83 ( 5 Pt 1 ): 657-60 .
  • 8 Chueh JT, Goldberg JD, Wohlferd MM, Golbus MS. Comparison of transcervical and transabdominal chorionic villus sampling loss rates in nine thousand cases from a single center. Am J Obstet Gynecol. 1995; Oct ; 173 (04) : 1277-82 .
  • 9 Canadian Early and Mid-trimester Amniocentesis Trial (CEMAT) Group. . Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 1998; 351: 242-247
  • 10 Nicolaides K, Brizot Mde L, Patel F. et al. Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10 – 13 weeks’ ge- station. Lancet 1994; 344: 435-439
  • 11 Tabor A, Alfirevic Z. Update on Procedure-Related Risks for Prenatal Di- agnosis Techniques. Fetal Diagn Ther 2010; 27: 1-7
  • 12 Royal College of Obstetricians and Gynaecologists. Amniocentesis and Chorion Villous Sampling, Green-top Guideline No. 8. ; 2010
  • 13 Tongsong T, Wanapirak C, Kunavikatikul C, Sirirchotiyakul S, Piyamongkol W, Chanprapaph P. Fetal loss rate associated with cordocentesis at midgestation. Am J Obstet Gynecol. 2001; Mar ; 184 (04) : 719-23 .
  • 14 Lo YMD. , Corbetta N et. al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-7 .
  • 15 Lo YMD, Chan KCA. , et.al. Maternal plasma DNA sequencing reveals the genom- wide genetic and mutational profile of the fetus. Sci Transl Med 2010; 2: 61ra91
  • 16 Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat Diagn.2011 Jan; 31 (01) : 90-102 . doi: 10.1002 / pd.2642.
  • 17 Poon LC, Syngelaki A, Akolekar R, Lai J, Nicolaides KH. Combined screening for preeclampsia and small for gestational age at 11-13 weeks. Fetal Diagn Ther. 2013; 33 (01) : 16-27 . doi: 10.1159 / 000341712. Epub 2012 Sep 13.
  • 18 Bujold E, Roberge S, Lacasse Y, Bureau M, Audibert F, Marcoux S, Forest JC, Giguère Y. Prevention of preeclampsia and intrauterine growth restriction with aspirin started in early pregnancy: a meta-analysis. Obstet Gynecol. 2010; Aug ; 116 ( 2 Pt 1 ): 402-14 .
  • 19 Rolnik DL, Wright D, Poon LC, O’Gorman N, Syngelaki A, de Paco Matallana C, Akolekar R, Cicero S, Janga D, Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum-Gavish K, Meiri H, Gizurarson S, Maclagan K, Nicolaides KH. Aspirin versus Placebo in Pregnancies at High Risk for Preterm Preeclampsia. N Engl J Med. 2017; Aug 17 ; 377 (07) : 613-622 . doi: 10.1056 / NEJMoa1704559. Epub 2017 Jun 28.
  • 20 Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol. 1981; Sep ; 58 (03) : 282-5 .
  • 21 Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998; Aug 1 ; 352 ( 9125 ): 343-6 .
  • 22 Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005; Mar ; 25 (03) : 221-6 .
  • 23 Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008; Jun ; 31 (06) : 618-24 .
  • 24 Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017; Sep ; 50 (03) : 302-314 .