FastFISH: Technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis

Choolani, M., Ho, S. S. Y., Razvi, K., Ponnusamy, S., Baig, S., Fisk, N. M. and Rapid Molecular Testing in Prenatal Diagnosis Group (2007) FastFISH: Technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Molecular Human Reproduction, 13 6: 355-359. doi:10.1093/molehr/gam016


Author Choolani, M.
Ho, S. S. Y.
Razvi, K.
Ponnusamy, S.
Baig, S.
Fisk, N. M.
Rapid Molecular Testing in Prenatal Diagnosis Group
Title FastFISH: Technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis
Journal name Molecular Human Reproduction   Check publisher's open access policy
ISSN 1360-9947
1460-2407
Publication date 2007-06
Sub-type Article (original research)
DOI 10.1093/molehr/gam016
Volume 13
Issue 6
Start page 355
End page 359
Total pages 5
Place of publication Oxford, U.K.
Publisher Published for the European Society for Human Reproduction and Embryology by Oxford University Press
Language eng
Subject 111401 Foetal Development and Medicine
111402 Obstetrics and Gynaecology
1114 Paediatrics and Reproductive Medicine
Formatted abstract
Rapid aneuploidy detection methods allow prenatal diagnosis results to be released within 48 h, but not on the same day as the invasive test. We aimed to develop a rapid fluorescence in situ hybridization (FISH) method (FastFISH) that releases accurate results on the same day as amniocentesis. FastFISH was optimized to be completed within 2 h of sample collection using CEP and LSI probes for chromosomes 13, 18, 21, X, Y and DiGeorge syndrome (DGS). The technique was tested on 100 consecutive amniotic fluid samples in a blinded study. It was also validated as a 1-day molecular genetic test on three representative fetal tissue samples: chorionic villus, amniotic fluid and fetal blood. In the blinded study, FastFISH results were ready within 2 h of sample collection. Of the 100 amniotic fluid samples, 49 male and 50 female fetuses were identified. One fetus was 47, XXY (Klinefelter syndrome). Three fetuses had trisomy 21. One fetus suspected of DGS by ultrasound was identified as normal. Results of FastFISH analyses in all 100 cases were concordant with their karyotypes (100% accuracy; lower 95% CI, 97.05%). In the 1-day test validation, all results were released on the same day and were concordant with their respective karyotypes. FastFISH allows results to be released on the same day as amniocentesis. It represents the necessary development for a 1-day prenatal diagnosis service.
©The Author 2007.

Keyword Aneuploidy
Down syndrome
FISH
Prenatal diagnosis
Rapid aneuploidy detection
Q-Index Code C1
Additional Notes Rapid Molecular Testing in Prenatal Diagnosis Group: Nuruddin Badruddin Mohammed, Zhang Huoming, Leena Gole, Wong PC, Mary Rauff, Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore; Chan Yiong Huak, Biostatistic Unit, Yong Loo Lin School of Medicine, National University of Singapore; Kevin Tan SW, Department of Microbiology, Yong Loo Lin School of Medicine, National University of Singapore.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Mon, 23 Mar 2009, 13:40:43 EST by Mary-Anne Marrington on behalf of UQ Centre for Clinical Research