Skip to main content
Log in

Cytogenetic analysis of chorionic villi: a technical assessment

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis within one week. An adequate number of cell divisions for cytogenetic analysis was obtained from 96% of living fetuses. Using both the direct technique and short-term culture, satisfactory banded chromosomal preparations were made in 93% of cases. Eleven of 12 pregnancies (92%) shown by ultrasound to be dead shortly before sampling, had cytogenetic abnormalities. Further studies are needed to develop banding definition equivalent to that available on cultured amniocytes.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Blakemore KJ, Watson MS, Samuelson J, Breg WR, Mahoney J (1984) a method of processing first-trimester chorionic villous biopsies for cytogenetic analysis. Am J Hum Genet 36:1386–1393

    CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  CAS  Google Scholar 

  • Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rossella F, Ferrari M, Fraccaro M (1985) First-trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22:92–99

    Article  CAS  Google Scholar 

  • de Martinville B, Blakemore KJ, Mahoney MJ, Francke U (1984) DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination. Am J Hum Genet 36:1357–1368

    PubMed  PubMed Central  Google Scholar 

  • Elles RG, Williamson R, Niazi M, Coleman DV, Horwell D (1983) Absence of maternal contamination of chorionic villi used for fetal gene analysis. N Engl J Med 308:1433–1435

    Article  CAS  Google Scholar 

  • Evans EP, Burtenshaw MD, Ford CE (1972) Chromosomes of mouse embryos and newborn young: preparations from membranes and tail tips. Stain Technol 47:229–234

    Article  CAS  Google Scholar 

  • Ford JH, Jahnke AB (1983) Handling chorionic villi for direct chromosome studies. Lancet II:1491–1492

    Google Scholar 

  • Goossens M, Dumez Y, Kaplan L, Lupker M, Chabret C, Henrion R, Rosa J (1983) Prenatal diagnosis of sickle-cell anemia in the first-trimester of pregnancy. N Engl J Med 309:831–833

    Article  CAS  Google Scholar 

  • Grebner EE, Wapner RJ, Barr MA, Jackson LG (1983) Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet II:286–287

    Google Scholar 

  • Gregson MM, Seabright M (1983) Handling chorionic villi for direct chromosome studies. Lancet II:1491

    Article  Google Scholar 

  • Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science 221:665–667

    Article  CAS  Google Scholar 

  • Lykkelund C, Sondergaard F, Therkelsen AJ, Tonnesen T, Rasmussen V, Mikkelsen M, Guttler F, Nyland MH (1983) Feasibility of first-trimester prenatal diagnosis of Hunter syndrome? Lancet II:1147

    Article  Google Scholar 

  • MacKenzie IZ, Lindenbaum RH, Patel C, Clarke G, Crocker M, Jonasson JA (1983) Prenatal diagnosis of an unbalanced chromosome translocation identified by direct karyotyping of chorionic biopsy. Lancet II:1426–1427

    Article  Google Scholar 

  • Old JM, Ward RHT, Petrou M, Karagozlu F, Modell B (1982) First-trimester fetal diagnosis for hemoglobinopathies: three cases. Lancet II:1413–1416

    Article  Google Scholar 

  • Pergament E, Ginsberg N, Verlinsky Y, Cadkin A, Chu L, Trnka L (1983) Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet II:286

    Article  Google Scholar 

  • Perry TB, Vekemans MJJ, Lippman A, Hamilton EF, Fournier PJR (1985) Chorionic villi sampling: clinical experience, immediate complications, and patient attitudes. Am J Obstet Gynecol 151:161–166

    Article  CAS  Google Scholar 

  • Ridler MAC, Grewal MS (1984) Possible source of error in prenatal diagnosis via chorionic villus biopsy. Lancet I:1081

    Article  Google Scholar 

  • Sachs ES, Van Humel JO, Galjaard H, Niermeijer MF, Jahoda MGJ (1983) First-trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet II:1426

    Article  Google Scholar 

  • Schwab ME, Muller CH, Schmid-Tannwald I (1984) Fast and reliable culture method for cells from 8–10 week trophoblast tissue. Lancet I:1082

    Article  Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972

    Article  Google Scholar 

  • Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M (1983) Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first-trimester of pregnancy. Hum Genet 63:349–357

    Article  CAS  Google Scholar 

  • Simoni G, Brambati B, Danesino C, Terzoli GL, Romitti L, Rossella F, Fraccaro M (1984) Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 66:252–259

    Article  CAS  Google Scholar 

  • Tonnesen T, Sondergaard F, Mikkelsen M, Davies KE, Old J, Winter RM, Hauge M (1984) X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A. Lancet II:1269–1270

    Article  Google Scholar 

  • Upadhyaya M, Archer IM, Harper PS, Jasani B, Roberts A, Shaw DJ, Thomas NST, Williams H (1984) DNA and enzyme studies on chorionic villi for use in antenatal diagnosis. Clin Chim Acta 140:39–46

    Article  CAS  Google Scholar 

  • Watanabe M, Ito T, Yamamoto M, Watanabe JI (1978) Origin of mitotic cells of the chorionic villi in direct chromosome analysis. Hum Genet 44:191–193

    Article  CAS  Google Scholar 

  • Williamson R, Eskdale J, Coleman DV, Niazi M, Loeffler FE, Modell BM (1981) Direct gene analysis of chorionic villi: a possible technique for first-trimester antenatal diagnosis of haemoglobinopathies. Lancet II:1125–1127

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Vekemans, M.J.J., Perry, T.B. Cytogenetic analysis of chorionic villi: a technical assessment. Hum Genet 72, 307–310 (1986). https://doi.org/10.1007/BF00290954

Download citation

  • Received:

  • Revised:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00290954

Keywords

Navigation