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Application of KaryoLite BACs on Beads assay for prenatal diagnosis to detect chromosome aneuploidy in amniotic fluid cells |
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| รหัสดีโอไอ | |
| Creator | 1. Watcharapa Jaranasaksakul 2. Takol Chareonsirisuthigul 3. Prapatsorn Areesirisuk 4. Rachanee Parinayok 5. Budsaba Rerkamnuaychoke |
| Title | Application of KaryoLite BACs on Beads assay for prenatal diagnosis to detect chromosome aneuploidy in amniotic fluid cells |
| Publisher | Genetics Society of Thailand |
| Publication Year | 2558 |
| Journal Title | Thai Journal of Genetics |
| Journal Vol. | 8 |
| Journal No. | 1 |
| Page no. | 66 - 72 |
| Keyword | prenatal diagnosis, KaryoLite BACs on Beads, conventional karyotyping, amniotic fluid cell |
| ISSN | 24081310 |
| Abstract | Prenatal diagnosis (PND) is a technique to detect chromosome abnormalities in fetus before birth. The techniques currently used for PND are conventional karyotyping and fluorescent in situ hybridization (FISH). Both techniques still have limitations, e.g., a high error rate of detection. The purpose of this study was to evaluate the efficiency of KaryoLite BACs-on-Beads (KL-BoBs?) as a routine diagnostic assay in a clinical application for PND by comparison with conventional karyotyping. A total of 37 amniotic fluid cell samples from 18 patients were used to validate KL-BoBs? technique. The results of the KL-BoBs? were 100% concordant with karyotyping for trisomy 18, trisomy 21, triple X, normal XX and normal XY. In conclusion, our results indicated that KL-BoBs? had high concordance with conventional karyotying for prenatal diagnosis to detect chromosome status in amniotic fluid cells. Moreover, using an appropriate reference could reduce the coefficient of variation (CV) and increase accuracy of interpretation. |
