Activities

• Featured Presentation

  Application of Targeted Methods in Reproductive Health

  Droplet digital PCR (ddPCR) has led to many important breakthroughs in oncology, infectious disease, and genetics. This includes clinical applications in reproductive health such as detection of single gene disorders (sickle cell disease, cystic fibrosis, RhD) and non-invasive prenatal testing. While next generation sequencing (NGS) is useful for biomarker discovery, for the routine screening of known biomarkers, ddPCR often provides a more rapid, sensitive, and cost-effective approach.

  This presentation will provide an overview of droplet digital PCR, its current clinical applications used for prenatal testing, and how it may fulfill future clinical needs in areas affecting a pregnancy’s outcome, such as preeclampsia and endometriosis.

   

• Guest Speakers

  This presentation features three experts in the areas of reproductive health, genetics, and ddPCR.

  

  Vaidehi Jobanputra, PhD
  Chief Diagnostics Officer at
  New York Genome Center

  

  Scott Hauenstein, PhD
  Associate Director of Scientific Affairs at Bio-Rad Laboratories

  

  Olga Mikhaylichenko, PhD
  Senior Scientist at Bio-Rad Laboratories

Bio-Rad attended the Association for Molecular Pathology (AMP) 2022 Annual Meeting on November 3–5, 2022. Visitors were able to learn about our Molecular Diagnostics Grant Program and our commitment to the Reproductive and Women's Health field. Take a look at our scientific posters below which were featured at the event!

• 

  Poster #G072
  Quantifying fetal DNA in maternal blood plasma by ddPCR using DNA methylation

  Friday, November 4, 2022
  9:15–10:15 a.m. PDT

  Authors: Eric Hall, Thea Riel, Madhumita Ramesh, Maria Gencoglu, Olga Mikhaylichenko, Richard Dannebaum, Severine Margeridon, Monica Herrera

  Genetics Summary: The proportion of cell-free DNA (cfDNA) circulating in maternal blood that originates from the fetus, the fetal fraction, is an important quality control metric when performing tests on fetal-derived cfDNA. Epigenetic differences produce dissimilar DNA methylation patterns, allowing for leveraging regions of high methylation contrast using methylation-sensitive restriction enzyme (MSRE) digestion to quantify fetal and maternal DNA via droplet digital PCR (ddPCR).This advancement positions ddPCR as a faster and less expensive alternative to next generation sequencing (NGS) for fetal fraction estimation.

  Download poster

• 

  Poster #G075
  High-precision copy number variation (CNV) measurement achieved on Droplet Digital PCR with a high multiplexing approach

  Saturday, November 5, 2022
  9:15–10:15 a.m. PDT

  Authors: Richard Dannebaum, Nyaradzo Dzvova, Raymond-John Abayan, Maria Gencoglu, Olga Mikhaylichenko, Anthony Henriquez, Severine Margeridon, Monica Herrera

  Genetics Summary: The ability to test circulating cell-free DNA in the bloodstream has been a revolution for the development of liquid biopsies for clinical applications. Likewise, digital PCR (dPCR) offers a fast and cost-effective means to target and accurately count DNA molecules of interest. However, due to the limited amount of material available in a single tube of blood, high levels of precision are difficult to achieve without sufficiently large numbers of multiplexed PCR assays. In this study, we demonstrate the ability to achieve high levels of precision and accuracy for CNV detection in dPCR by combining highly multiplex assays with a universal probe approach.

  Download poster

• Featured Presentation

  Innovation Will Enable Better Maternal and Fetal Care: Future Perspectives

  The discovery of cell-free fetal DNA aided by advances in detection has opened up a range of possibilities to identify genetic conditions in the fetus earlier and more accurately. Among them is the rapid development of non-invasive prenatal screening for common aneuploidies and testing of single-gene disorders. Diverse technologies are being applied. Physicians and patients would benefit from understanding the prevailing technologies, including their capabilities and limitations.

  One example is droplet digital PCR (ddPCR) which through high sensitivity, fast turn-around, and cost-effectiveness, can provide the opportunity to increase access to reliable testing. ddPCR is well positioned to address existing and novel applications in reproductive health.

  Watch presentation

   

• Guest Speakers

  This presentation features three experts in the areas of reproductive health, genetics, and ddPCR.

  

  Ron Wapner, MD
  Director of Reproductive Genetics, Professor of Obstetrics and Gynecology at Columbia University, Irving Medical Center

  

  Vaidehi Jobanputra, PhD
  Chief Diagnostics Officer at
  New York Genome Center

  

  Scott Hauenstein, PhD
  Associate Director of Scientific Affairs at Bio-Rad Laboratories