Novel real-time PCR assay for rapid prenatal diagnosis of Down syndrome: a prospective study of 563 amniocytes
| Autor: | Bo Zhu, Jian-fei You, Shiming Lu, Yu-ning Zhu, Mei-yu Yu |
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| Rok vydání: | 2008 |
| Předmět: |
Oncology
Adult Down syndrome medicine.medical_specialty Pathology Amniotic fluid Chromosomes Human Pair 21 Clinical Biochemistry Prenatal diagnosis Biology Pregnancy Proteins Polymerase Chain Reaction Pregnancy Internal medicine Prenatal Diagnosis medicine Humans Child Chromosome Karyotype General Medicine medicine.disease Amniotic Fluid Real-time polymerase chain reaction Female RNA Long Noncoding Down Syndrome Chromosome 21 Trisomy |
| Zdroj: | Clinical biochemistry. 42(7-8) |
| ISSN: | 1873-2933 |
| Popis: | Objective To explore the possibilities of a novel real-time PCR assay for rapid prenatal diagnosis of Down syndrome in clinical settings. Design and methods This duplex real-time PCR assay is based on relative quantification of DSCR4 gene on chromosome 21 by using RABIF gene on chromosome 1 as a reference. For each sample, the differences in threshold cycles between DSCR4 and RABIF genes (Delta Ct, ΔCt) were detected, and a calibrated ΔCt value (ΔΔCt, ΔCt sample – ΔCt internal control) was analyzed. Overall, 563 amniotic fluid samples from patients were blindly tested for fetal chromosome analysis and their ΔΔCt values were evaluated according to the karyotyping results. Results Chromosome analysis revealed that 12 fetuses had trisomy 21 and 551 others were normal in chromosome 21. The ΔΔCt values of trisomy 21 fetuses were significantly lower than those of normal ones (p-value |
| Databáze: | OpenAIRE |
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