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Non-invasive prenatal detection of fetal trisomy 18 by RNA–SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study by Nancy B. Y. Tsui; Blenda C. K. Wong; Tak Y. Leung; Tze K. Lau; Rossa W. K. Chiu; Y. M. Dennis Lo is a Medicine article available to read on EtoBox.

What is Non-invasive prenatal detection of fetal trisomy 18 by RNA–SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study about?

## Abstract ## Objective Non‐invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA–SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the non‐invasive prenatal detection of fetal trisomy 18. ## Method We targeted __serpin peptidase inhibitor, clade B (ovalbumin), membrane 2__ (__SERPINB2__) mRNA, which is transcribed from chromosome 18 and is preferentially expressed by the placenta. We developed a mass‐spectrometric assay to measure the __SERPINB2__ RNA–SNP allelic ratios in the placental samples and maternal plasma obtained from pregnancies involving euploid and trisomy 18 fetuses. ## Results We were able to separate all the euploid and trisomy 18 placentas by their __SERPINB2__ RNA–SNP allelic ratios. The allelic ratios of the trisomy 18 placentas deviated from the reference interval established from the euploid placentas. Due to the relatively low concentrations of __SERPINB2__ mRNA in maternal plasma, we used pooled maternal plasma samples for analysis. We were able to identify three

Who reads Non-invasive prenatal detection of fetal trisomy 18 by RNA–SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study?

Author

Nancy B. Y. Tsui; Blenda C. K. Wong; Tak Y. Leung; Tze K. Lau; Rossa W. K. Chiu; Y. M. Dennis Lo

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

2009

Language

EN

Field

Medicine (Health Sciences)