New syndrome findings from National University, Medical Department published
2007 SEP 18 -- "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," researchers in Singapore, Singapore report. "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 I-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," wrote M. Choolani and colleagues, National University, Medical Department. The researchers concluded: "It represents the necessary development for a 1-day prenatal diagnosis service." Choolani and colleagues published their study in Molecular Human Reproduction (FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Molecular Human Reproduction, 2007;13(5-6):355-359). For additional information, contact M. Choolani, Singapore National University, Yong Loo Lin School Medical, Dept. of Obstetrics & Gynecology, Division Maternal & Fetal Medical, 5 Lower Kent Ridge Rd., Singapore 119074, Singapore. Publisher contact information for the journal Molecular Human Reproduction is: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: Singapore, Singapore, Biotechnology, Diagnosis, Diagnostics, Syndrome, National University, Medical Department. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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