Skip to main content

Conference Program

Subpage Hero

Loading

Current Debates in Reproductive Genetics: CNV Reporting in Cell Free Fetal DNA Screening and Genome Sequencing for All

21 Mar 2025
Prenatal Genetics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Prenatal Genetics
  • Secondary Categories:
    • Prenatal Genetics
With the expansion of genomic technologies, clinicians in reproductive genetics routinely debate what conditions should be reported and what technologies should be offered to patients. In this session, experts will debate on two hot topics: 1. Should Sex Chromosomal Aneuploidies (SCA) be routinely reported from noninvasive prenatal screening? and 2. Should all patients pursuing prenatal diagnostic testing be offered genome sequencing?

Debate 1: The rapid implementation of noninvasive prenatal screening driven by a commercial market led to inconsistency nationally regarding what conditions were ordered and reported to patients. Whether or not to report SCAs has been hotly contested given challenges in consent, interpretation, appropriate follow up testing, possibility to diagnosis a pregnant person versus the benefits of early detection for pregnancy management and post-natal treatment. The debate of experts will include points to consider for each side of the argument a point/counterpoint format, allowing the audience to obtain an informed knowledge base for their practice.

Debate 2: Exome and genome sequencing has now become a standard offering in the setting of fetal anomalies in many centers across the country. Given the demonstrated incremental yield of such technologies over standard of care testing such as karyotype and chromosomal microarray (CMA), clinicians are starting to consider offering exome/genome sequencing to all patients pursuing prenatal diagnostic testing for any indication. The debate of experts will include points to consider for each side of the argument with a point/counterpoint format, allowing the audience to obtain an informed knowledge base for their practice. 

After all the experts present their points to consider, there will be time for moderated discussion about the topics. 

Learning Objectives

  1. Identify the benefits of reporting sex chromosome aneuploidies (SCA) through non-invasive prenatal screening
  2. Identify the risks of reporting sex chromosome aneuploidies (SCA) through non-invasive prenatal screening
  3. Define the benefits of offering genome sequencing to all patients pursuing prenatal diagnosis
  4. Define the risks of offering genome sequencing to all patients pursuing prenatal diagnosis

Agenda

Sponsors