A proposed list of new issues or process for completing declarations reviews when those were added to our job function. These suggestions ultimately resulted in the step by step declarations guide.
A proposed list of new issues or process for completing declarations reviews when those were added to our job function. These suggestions ultimately resulted in the step by step declarations guide.
Aneuploidy in embryos is the leading cause of failure for in vitro fertilization (IVF)
procedures.1 Pre-implantation Genetic Screening (PGS) is used to identify euploid
embryos for implantation to increase successful pregnancies and decrease the number
of cycles required to obtain them. PGS using fluorescence in situ hybridization has
fallen out of favor and been replaced by comparative genome hybridization on
microarrays.1 More recently, high throughput sequencing (HTS) technologies have been
employed for cost-effective PGS on multiple samples.1
We report results using a streamlined Whole Genome Amplification (WGA) and library
generation method followed by HTS and data analysis to detect aneuploidies in single
cells in under 12hr. Using DNA barcodes, we multiplex libraries to reduce the per
sample cost. Our analysis platform compares reads per chromosomal region to an
informatics control built from a baseline of normal cell samples. Using this method, we
show that trisomy of the smallest chromosome (21) can be detected with high sensitivity
and specificity.
Aneuploidy in embryos is the leading cause of failure for in vitro fertilization (IVF)
procedures.1 Pre-implantation Genetic Screening (PGS) is used to identify euploid
embryos for implantation to increase successful pregnancies and decrease the number
of cycles required to obtain them. PGS using fluorescence in situ hybridization has
fallen out of favor and been replaced by comparative genome hybridization on
microarrays.1 More recently, high throughput sequencing (HTS) technologies have been
employed for cost-effective PGS on multiple samples.1
We report results using a streamlined Whole Genome Amplification (WGA) and library
generation method followed by HTS and data analysis to detect aneuploidies in single
cells in under 12hr. Using DNA barcodes, we multiplex libraries to reduce the per
sample cost. Our analysis platform compares reads per chromosomal region to an
informatics control built from a baseline of normal cell samples. Using this method, we
show that trisomy of the smallest chromosome (21) can be detected with high sensitivity
and specificity.
