Skip to main content
SpringerLink
Log in

Invasive Diagnostic Procedures in the First Trimester

  • Chapter
Antenatal Diagnosis of Fetal Abnormalities

Abstract

Prenatal diagnostic tests can be divided into those involving measurement of chemicals in maternal blood; imaging the fetus; and invasive tests to remove tissues of fetal origin. The last may be divided into those carried out beyond about 14 weeks’ gestational age (GA), before 14 weeks but after implantation, and those in the preimplantation period. The first group (beyond 14 weeks) includes fetal blood sampling, fetal tissue biopsy, “good old-fashioned” mid-pregnancy amniocentesis, and transabdominal chorion biopsy. The last group (preimplantation diagnosis) includes embryo biopsy and polar body analysis. This chapter considers the middle group; early amniocentesis, transabdominal chorion villus biopsy or sampling (CVS) and transcervical CVS as the main contenders, with rival sideshows such as aspiration of chorionic villi, amniotic or blastocyst fluid through the vaginal fornices and cytological sampling of the lower uterine segment. Although consumer choice is regarded as a good thing, you can have too much of all good things and excessive choice is bewildering [1]. It is time for one or two “market leaders” to emerge: each test will be considered in turn.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
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.

References

  1. Lilford RJ. “In my day we just had babies”. J Reprod Infant Psychol 1989; 7:187–91.

    Article  Google Scholar 

  2. Hahnemann N. Early prenatal diagnosis; a study of biopsy techniques and cell culturing from extraembryonic membranes. Clin Genet 1974; 6:294–306.

    Article  PubMed  CAS  Google Scholar 

  3. Hamilton WJ, Boyd JD. Development of the human placenta. In: Philipp E, Barnus J, Newton M, eds. Scientific foundations of obstetrics and gynaecology. London: Heinemann Medical Books, 1970; 185–253.

    Google Scholar 

  4. Gosden JR, Gosden CM, Mitchell AR, Rodeck CH, Morsman JM. Direct vision chorion biopsy and chromosome-specific DNA probes for determination of fetal sex in first trimester prenatal diagnosis. Lancet 1982; ii:1416–19.

    Article  Google Scholar 

  5. Rodeck CH, Morsman JM, Gosden CM, Gosden JR. Development of an improved technique for first-trimester microsampling of chorion. Br J Obstet Gynaecol 1983; 90:1113–18.

    Article  PubMed  CAS  Google Scholar 

  6. Gustavii B. First-trimester chromosomal analysis of chorionic villi obtained by direct vision technique. Lancet 1983; i:507–8.

    Article  Google Scholar 

  7. Gustavii B, Chester MA, Edvall H et al. First-trimester diagnosis on chorionic villi obtained by direct vision technique. Hum Genet 1984; 65:373–6.

    Article  PubMed  CAS  Google Scholar 

  8. Nordenskjold F, Gustavii B. Direct vision chorionic villi biopsy for prenatal diagnosis in the first trimester. J Reprod Med 1984; 29:572–4.

    PubMed  CAS  Google Scholar 

  9. Elias S, Simpson JL, Martin AO, Sabbagha RE, Gerbie AB, Keith LG. Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University Program. Am J Obstet Gynecol 1985; 152:204–13.

    PubMed  CAS  Google Scholar 

  10. Maxwell D, Czepulkowski BH, Heaton DE, Coleman DV, Lilford R. A practical assessment of ultrasound-guided transcervical aspiration of chorionic villi and subsequent chromosomal analysis. Br J Obstet Gynaecol 1985; 92:660–5.

    Article  PubMed  CAS  Google Scholar 

  11. Perry TB, Vekemans MJJ, Lippman A, Hamilton EF, Fournier PJR. Chorionic villi sampling: clinical experience, immediate complications, and patient attitudes. Am J Obstet Gynecol 1985; 151:161–6.

    PubMed  CAS  Google Scholar 

  12. Verlinsky Y, DeChristopher PJ, Pergament E, Ginsberg NA. Histomorphological aspects of chorionic villi in first trimester fetal diagnosis. In: Fraccaro M, Simoni G, Brambati B, eds. First trimester fetal diagnosis. Heidelberg: Springer-Verlag, 1985; 178–88.

    Chapter  Google Scholar 

  13. Alvarez H. Diagnosis of hydatidiform mole by transabdominal placental biopsy. Fetus Newborn 1965; 95:538–41.

    Google Scholar 

  14. Smidt-Jensen S, Hahnemann N. Transabdominal fine needle biopsy from chorionic villi in the first trimester. Prenat Diagn 1984; 4:163–9.

    Article  PubMed  CAS  Google Scholar 

  15. Lilford RJ, Maxwell D. The development of a transcutaneous technique for chorion biopsy. Proceedings of prenatal diagnosis group meeting “Progress in first trimester diagnosis”, Queen Charlotte’s Hospital, London, 1984.

    Google Scholar 

  16. Maxwell DJ, Lilford RJ, Czepulkowski B, Heaton D, Coleman D. Transabdominal chorionic villus sampling. Lancet 1986; i:123–6.

    Article  Google Scholar 

  17. Lilford RJ, Irving HC, Linton G, Mason MK. Transabdominal chorion villus biopsy: 100 consecutive cases. Lancet 1987; i:1415–16.

    Article  Google Scholar 

  18. Brambati B, Oldrini A, Lanzani A. Transabdominal chorionic villus sampling: a freehand ultrasound-guided technique. Am J Obstet Gynecol 1987; 157:134–7.

    PubMed  CAS  Google Scholar 

  19. Brambati B, Oldrini A, Lanzani A, Terzian E, Tognoni G. Transabdominal versus transcervical chorionic villus sampling: A randomized trial. Hum Reprod 1988; 3:811–13.

    CAS  Google Scholar 

  20. Bovicelli L, Rizzo N, Montacuti V, Morandi R. Transabdominal versus transcervical routes for chorionic villus sampling. Lancet 1986; ii:290.

    Article  Google Scholar 

  21. Mackenzie WE, Holmes DS, Newton JR. Study comparing transcervical with transabdominal sampling (CVS). Br J Obstet Gynaecol 1988; 95:75–8.

    Article  PubMed  CAS  Google Scholar 

  22. Lilford RJ. Does the tradeoff between the gestational age and miscarriage risk of a prenatal diagnostic test vary according to genetic risk? Lancet 1990; 336:1303–5.

    Article  PubMed  CAS  Google Scholar 

  23. Blakemore KJ, Samuelson J, Breg WR, Mahoney MJ. Maternal metaphases on direct chromosome preparation of first trimester decidua. Hum Genet 1985; 69:380.

    Article  PubMed  CAS  Google Scholar 

  24. MacLachlan NA, Rooney DE, Coleman D, Rodeck CH. Prenatal diagnosis: early amniocentesis or chorionic villus sampling. Contemp Rev Obstet Gynaecol 1989; 173–80.

    Google Scholar 

  25. Godmilow L, Weiner S, Dunn LK. Early genetic amniocentesis: experience with 600 consecutive procedures and comparison with chorionic villi sampling (Abstract). Am J Hum Genet 1988; 43 (Suppl 3):A234.

    Google Scholar 

  26. Arnovitz KS, Priest JH, Elsas LJ, Strumlauf E. Amniocentesis prior to 14.5 weeks gestation: experience in 142 cases (Abstract). Am J Hum Genet 1988; 43(Suppl 3):A225.

    Google Scholar 

  27. Miller WA, Davies RM, Thayer BA, Peakman D, Harding K, Henry G. Success, safety and accuracy of early amniocentesis. Am J Hum Genet 1987; 41 (Suppl):A281.

    Google Scholar 

  28. Hanson FW, Zorn EM, Tennant FR, Marianos S, Samuals S. Amniocentesis before 15 weeks gestation: outcome, risks and technical problems. Am J Obstet Gynecol 1987; 156:1524–31.

    PubMed  CAS  Google Scholar 

  29. Johnson A, Godmilow L. Genetic amniocentesis at 14 weeks or less. Clin Obstet Gynecol 1988; 31:345–52.

    Article  PubMed  CAS  Google Scholar 

  30. Stripparo L, Bruscaglia M, Longatti et al. Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation. Prenat Diagn 1990; 10:359–64.

    Article  PubMed  CAS  Google Scholar 

  31. Hanson FW, Happ RL, Tennant FR, Hune S, Peterson AG. Ultrasonography-guided early amniocentesis in singleton pregnancies. Am J Obstet Gynecol 1990; 162:1376–83.

    PubMed  CAS  Google Scholar 

  32. Burton BK, Pettenati MJ. False positive acetylcholinesterase with amniocentesis (Abstract). Am J Hum Genet 1988; 43 (Suppl 3):A903.

    Google Scholar 

  33. Rodeck CH, Ivan D. Sampling pure fetal blood in twin pregnancies by fetoscopy using a single uterine puncture. Prenat Diagn 1981; 7:43–9.

    Article  Google Scholar 

  34. Niazi M, Coleman DV, Mowbray JF, Blunt S. Tissue typing amniotic fluid cells: potential use for detection of contaminating maternal cells. J Med Genet 1979; 16:21–3.

    Article  PubMed  CAS  Google Scholar 

  35. Mulcahy MT, Roberman B, Reid SE. Chorion biopsy, cytogenetic diagnosis and selective termination in a twin pregnancy at risk of haemophilia. Lancet 1984; ii:866–7.

    Article  Google Scholar 

  36. Orrell RW, Lilford RJ. Chorionic villus sampling and rare side-effects. Will a randomised controlled trial detect them? Int J Gynecol Obstet 1990 (in press).

    Google Scholar 

  37. Finikiotis G, Gower L. Chorion villus sampling — transcervical or transabdominal? Aust NZ J Obstet Gynaecol 1990; 30:63–5.

    Article  CAS  Google Scholar 

  38. Brambati B, Lanzani A, Tului L. Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2,411 cases. Am J Med Genet 1990; 35:160–4.

    Article  PubMed  CAS  Google Scholar 

  39. Wapner RJ, Davis G, Jackson LG, Johnson A, Ronkin SL, Fischer RL. A randomised prospective comparison of transcervical and transabdominal chorionic villus sampling. Jefferson Medical College — report in preparation.

    Google Scholar 

  40. Hobbins JC. Consequences of chorionic biopsy. N Engl J Med 1984; 310:1121.

    Google Scholar 

  41. Wilson RD, Kendrick V, Wittman BK, McGillivray BC. Risk of spontaneous abortion in ultrasonically normal pregnancies. Lancet 1984; ii:290.

    Google Scholar 

  42. Liu et al. In: Jackson Newsletter: Early prenatal diagnosis. Jefferson Medical College, Philadelphia, 1987.

    Google Scholar 

  43. Gilmore DH, McHay MB. Spontaneous fetal loss rate in early pregnancy. Lancet 1985; i:107.

    Article  Google Scholar 

  44. Crane JP, Beaver HA, Cheung SW. First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis. Preliminary results of a controlled prospective trial. Prenat Diagn 1988; 8:355–661.

    Article  PubMed  CAS  Google Scholar 

  45. Tabor A, Masden M, O’Bell EB et al. Randomised controlled trial of genetic amniocentesis in 4,606 low risk women. Lancet 1986; i:1287–92.

    Article  Google Scholar 

  46. National Institute of Child Health and Human Development. Mid-trimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 1976; 236:1471–6.

    Article  Google Scholar 

  47. Maxwell DJ, Lilford RJ. An interesting ultrasonic observation following chorionic villus sampling. J Clin Ultrasound 1985; 13:343–4.

    Article  PubMed  CAS  Google Scholar 

  48. Scialli AR, Neugebauer DL, Fabros S. Microbiology of the endocervix in patients undergoing chorionic villi sampling. In: Fraccaro M, Simoni G, Brambati B, eds. First trimester fetal diagnosis. Heidelberg: Springer-Verlag, 1985; 69–73.

    Chapter  Google Scholar 

  49. Jouppila P, Huhtaniemi I, Herva R, Piiroinen O. Correlation of human chorionic gonadotrophin secretion in early pregnancy failure with site of gestational sac and placental histology. Obstet Gynecol 1984; 63:537–42.

    PubMed  CAS  Google Scholar 

  50. Nevin J, Nevin NC, Dornan JC, Sim D, Armstrong JC. Early amniocentesis: experience of 222 consecutive patients, 1987–1988. Prenat Diagn 1990; 10:79–83.

    Article  PubMed  CAS  Google Scholar 

  51. Garrison CP, Berry PK, Mitter NS, Snoey DM, Johnston JS. Early amniocentesis and rapid prenatal diagnosis. Am J Hum Genet 1988; 43(Suppl 3):A234.

    Google Scholar 

  52. Elejalde BR, de Elejalde MM. Early genetic amniocentesis, safety, complications, time to obtain results and contradictions (Abstract). Am J Hum Genet 1988; 43(Suppl 3):A232.

    Google Scholar 

  53. Hislop A, Howard S, Fairweather DVI. Morphometric studies on the structural development of the lung in Macaca fascicularis during fetal and postnatal life. J Anat 1984; 138:95–112.

    PubMed  Google Scholar 

  54. Lilford RJ, Irving H, Gupta JK, O’Donovan P, Linton G. Transabdominal chorion villus biopsy versus amniocentesis for diagnosis of aneuploidy: safety is not enough. In: Chapman M, Grudzinskas JG, Chard T, Maxwell D, eds. The embryo: normal and abnormal growth. Heidelberg: Springer-Verlag, 1991:91–100.

    Google Scholar 

  55. Monni G, Olla G, Cao A. Patient’s choice between transcervical and transabdominal chorionic villus sampling. Lancet 1988; ii:1057.

    Article  Google Scholar 

  56. Lilford RJ. Trade-off between gestational age and miscarriage risk of prenatal testing: does it vary according to genetic risk? Lancet 1990; 336:1303–5.

    Article  PubMed  CAS  Google Scholar 

  57. Brambati B, Lanzari A, Tului L. Transabdominal and transcervical chorionic villus sampling: efficiency and risk evaluation of 2,411 cases. Am J Med Genet 1990; 35:160–4.

    Article  PubMed  CAS  Google Scholar 

  58. Cohen-Overbeek TE, Hop WCJ, den Ouden M, Pijpers L, Jahoda MGJ, Wladimiroff JW. Spontaneous abortion rate and advanced maternal age: consequences for prenatal diagnosis. Lancet 1990; 336:27–9.

    Article  PubMed  CAS  Google Scholar 

Download references

Authors
  1. R. J. Lilford
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Clarendon Wing, Leeds General Infirmary, LS2 9NS, Leeds, UK

    James O. Drife MD, FRCSEd, FRCOG (Professor of Obstetrics and Gynaecology) (Professor of Obstetrics and Gynaecology)

  2. Department of Medical Genetics, St Mary’s Hospital, Whitworth Park, M13 0JH, Manchester, UK

    Dian Donnai MBBS, FRCP, DCH, DObst, RCOG (Consultant Clinical Geneticist) (Consultant Clinical Geneticist)

Rights and permissions

Reprints and permissions

Copyright information

© 1991 Springer-Verlag London Limited

About this chapter

Cite this chapter

Lilford, R.J. (1991). Invasive Diagnostic Procedures in the First Trimester. In: Drife, J.O., Donnai, D. (eds) Antenatal Diagnosis of Fetal Abnormalities. Springer, London. https://doi.org/10.1007/978-1-4471-1854-1_7

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-1854-1_7

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1856-5

  • Online ISBN: 978-1-4471-1854-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation