Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (45)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Evans, M.I.
Right arrow Articles by Jackson, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Evans, M.I.
Right arrow Articles by Jackson, L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 14, No. 5, 1213-1216, May 1999
© 1999 European Society of Human Reproduction and Embryology

International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used

M.I. Evans1,9, G.P. Henry2, W.A. Miller3, T.H. Bui4, R.J. Snidjers5, R.J. Wapner6, P. Miny7, M.P. Johnson1, D. Peakman2, A. Johnson1, K. Nicolaides5, W. Holzgreve7, S.A.D. Ebrahim1, R. Babu8 and L. Jackson6

1 Departments of Obstetrics and Gynecology, Molecular Medicine and Genetics, and Pathology, Hutzel Hospital/Wayne State University, 4707 St Antoine Blvd, Detroit, MI 48201, USA, 2 Reproductive Genetics Center, Denver, CO, 3 Prenatal Diagnostic Center, Lexington, MA, USA, 4 Karolinska Institute, Stockholm, Sweden, 5 Kings College, London, UK, 6 Jefferson Medical Center, Philadelphia, PA, USA, 7 Departments of Medical Genetics and Ob/Gyn, University of Basel, Basel, Switzerland and 8 Quest-Nichols Institute, San Juan Capistrano, CA, USA

The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities. We attempt here to determine, in principle, what percentage of abnormalities would be detectable if only CSP–FISH were performed without karyotype for prenatal diagnosis. A total of 146 128 consecutive karyotypes for prenatal diagnosis from eight centres in four countries for 5 years were compared with predicted detection if probes for chromosomes 13, 18, 21, X and Y were used, and assuming 100% detection efficiency. A total of 4163 abnormalities (2.85%) were found including 2889 (69.4%) (trisomy 21, trisomy 18, trisomy 13, numerical sex chromosome abnormalities, and triploidies) which were considered detectable by FISH. Of these, 1274 were mosaics, translocations, deletions, inversions, rings, and markers which would not be considered detectable. CSP–FISH is a useful adjunct to karyotype for high risk situations, and may be appropriate in low risk screening, but should not be seen as a replacement for karyotype as too many structural chromosome abnormalities will be missed.

Key words: cytogenetics/FISH/karyotype/molecular cytogenetics/prenatal diagnosis

9 To whom correspondence should be addressed


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 BMJHome page
L. S Chitty, K. O Kagan, F. S Molina, J. J Waters, and K. H Nicolaides
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study
BMJ, February 25, 2006; 332(7539): 452 - 455.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
V. Cirigliano, G. Voglino, M.P. Canadas, A. Marongiu, M. Ejarque, E. Ordonez, A. Plaja, M. Massobrio, T. Todros, C. Fuster, et al.
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples
Mol. Hum. Reprod., November 1, 2004; 10(11): 839 - 846.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
C.-P. Chen, S.-R. Chern, and W. Wang
Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies
Hum. Reprod., April 1, 2000; 15(4): 929 - 934.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
J.J. van der Smagt, G.C. Beverstock, M.H. Breuning, H.H.H. Kanhai, and F.P.H.A. Vandenbussche
Assessment of prenatal karyotypes
Hum. Reprod., January 1, 2000; 15(1): 228 - 229.
[Full Text] [PDF]

Home page
 Hum ReprodHome page
M.I. Evans, G.P. Henry, W.A. Miller, T.H. Bui, R.J. Snijders, R.J. Wapner, P. Miny, M.P. Johnson, D. Peakman, A. Johnson, et al.

Hum. Reprod., January 1, 2000; 15(1): 229 - 230.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.