Skip to main content

Prenatal Diagnosis — An Introduction

  • Chapter
Diagnostic Cytogenetics

Part of the book series: Springer Lab Manual ((SLM))

  • 817 Accesses

Abstract

Nowadays, a broad spectrum of prenatal tests are available for pregnant women to assure the well-being of the unborn child. The various methods fall into two groups: the non-invasive and the invasive procedures. Here only the latter, namely amniocentesis, chorionic villi sampling and fetal blood sampling, should be considered. Tissue sampling is performed under sonographic control by specialized gynecologists who provide the specimen for genetic analysis. Importantly, all invasive techniques carry a significant procedure-related risk for an abortion.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

eBook
USD 16.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  • Bauer-Hansmann D, Golbus MS (1993) Prenatal diagnosis. In: Stevenson RE, Hall JG, Goddman RM (eds) Human malformations and related anomalies Vol I, Oxford University Press, New York, Oxford.

    Google Scholar 

  • Canadian collaborative CVS-amniocentesis clinical trial group (1989) Multicentre randomised clinical trial of chorionic villi sampling and amniocentesis. Lancet I: 1–6.

    Google Scholar 

  • Daffos F (1991) Fetal blood sampling. In Harrison MR, Golbus MS, Filly RA (eds), The unborn patient. Saunders, Philadelphia.

    Google Scholar 

  • DeLozier-Blanchet CD, Pellegrini B, Hahnemann JM, Pampallona S, Vejerslev LO (1997) The impact of CPM on fetal growth and development. Data from EUCROMIC (Abstract). 1st post EUCROMIC satellite meeting on prenatal diagnosis. Genova.

    Google Scholar 

  • Hahnemann JM, Vejerslev LO (1997) European collaborative research on mosaicism in CVS (EUCROMIC): fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet 70: 179–187.

    Article  PubMed  CAS  Google Scholar 

  • Hsu LYF, Perlis TE (1984) United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Pren Diagn 4: 97–130.

    Article  Google Scholar 

  • Kennerknecht I, Barbi G, Wolf M, Djalali M, Grab D, Terinde R, Vogel W (1993) Cytogenetic diagnosis after chorionic villus sampling are less reliable in very-high-and very-low-risk pregnancies. Pren Diagn 13: 929–944.

    Article  CAS  Google Scholar 

  • Kulier AM, Modell B, Jackson L, Simpson JL, Brambati B, Rhoads G, Froster U, Verlinsky Y, Smidt-Jensen S, Holzgreve W et al. (1993) Risk evaluation of CVS. Prenat Diagn 13: 197–209.

    Article  Google Scholar 

  • Lippman A, Tomkins DJ, Shime J, Hamerton JL, and Canadian Collaborative CVS-Amniocentesis clinical trial group (1992) Canadian multicentre randomized clinical trial of chorionic villus sampling and amniocentesis. Final report. Pren Diagn 12: 385–476.

    Article  CAS  Google Scholar 

  • MRC Working Party on the evaluation of chorionic villus sampling (1991) Medical Research Council European Trial of chorionic villus sampling. Lancet 337: 1491–1499.

    Article  Google Scholar 

  • Nicolini U, Rodeck CH (1992) Fetal blood and tissue sampling. In Brock, Rodeck, Ferguson-Smith (eds) Prenatal diagnosis and screening, Livingstone, Edinburgh.

    Google Scholar 

  • Smidt-Jensen S, Permin M, Philip J, Lundsteen C, Zachary JM, Fowler SE, Gruning K (1992) Randomized comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet 340: 1238–1244.

    Article  Google Scholar 

  • Tabor A, Madsen M, Obel EB, Philip J, Bang J, Noergard-Peterson B (1996) Randomized controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet I:1287–1293.

    Google Scholar 

  • Wegner RD (1993) Chorionic villi analysis. In Obe G (ed) Advances in mutagenesis research 4. Springer Verlag Berlin, Heidelberg, New York.

    Google Scholar 

  • Wilson RD (1995) Early amniocentesis: a clinical review. Pren Diagn 15: 1259–1273

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1999 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Wegner, RD. (1999). Prenatal Diagnosis — An Introduction. In: Wegner, RD. (eds) Diagnostic Cytogenetics. Springer Lab Manual. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59918-7_11

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-59918-7_11

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-47813-0

  • Online ISBN: 978-3-642-59918-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics