Determination of sensitivity and specificity of a novel gene dosage assay for prenatal screening of trisomy 21 syndrome

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• 作者：Ahmad Reza Kamyab^a ; Fahimeh Shahrokhi^a ; Elmira Shamsian^a ; Mina Hayat Nosaied^a ; Parvin Dibajnia^b ; Mehrdad Hashemi^c ; Reza Mahdian^a ; ^{rezamahdian@yahoo.com} ; ^{dr.reza.mahdian@gmail.com}
• 关键词：CVS ; Chorionic villus sampling ; DS ; Down Syndrome ; DSCR ; Down Syndrome Critical Region ; DSCAM ; Down Syndrome Cell Adhesion Molecule ; DYRK1A2 ; Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A ; PMP22 ; Peripheral Myelin Protein 22 ; MGB ; Mino
• 刊名：Clinical Biochemistry
• 出版年：2012
• 出版时间：February 2012
• 年：2012
• 卷：45
• 期：3
• 页码：267-271
• 全文大小：518 K

文摘

Objective

To compare the gene dosage results achieved by a novel multiplex quantitative assay with cytogenetic and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis for prenatal screening of trisomy 21 syndrome on corresponding fetal samples.

Design and methods

Fetal samples (n = 134) were collected from pregnant women considered high risk for having trisomy 21 affected fetus. Cytogenetic analysis and QF-PCR were performed. Then, the relative gene dosage of DSCAM and DYRK1A2 genes was determined on corresponding samples using comparative delta cycle of threshold (¦¤C_T) method.

Results

The mean gene dosage ratio was 1.55 ¡À 0.11 (95 % CI:1.51-1.58) in trisomy 21 cases and 1.01 ¡À 0.12 (95 % CI:0.98-1.03) in normal samples (p value < 0.001). The results were in agreement to the results of cytogenetic and QF-PCR analysis with the overall specificity of 0.96 (95 % CI:0.91-0.98) and the sensitivity of 0.80 (95 % CI:0.49-0.94).

Conclusions

This gene dosage assay is appropriate for the screening of high risk pregnant women and is readily amenable to automation.