ASRM Genetics Counselor Case Conference 2024

Case Conference 1: Evidence-Based Clinical Reporting and Genetic Counseling in PGT-A

Explore the different methods of PGT-A platform validation and their advantages/disadvantages. Learn about the downstream effects of PGT-A platform design, including factors such as false positive rates, rates of mosaicism and inability to identify certain chromosome abnormalities. Explore how these downstream effects may benefit or harm patient care in a clinical IVF setting.    

Faculty: Emily Mounts, MS, CGC - ART/IVF genetic counselor

Case Conference 2: Single Gene Testing for Infertility

This discussion focused on the specific genes involved in known nonsyndromic forms of infertility, included family case examples and detailed case work-ups that identified relevant mutations, and reviewed the utility and availability of genetic testing for diagnosing nonsyndromic infertility.

Faculty: Meaghan Doyle, MS, CGC

Case Conference 3: Expanded carrier screening on Gamete donors: Clinical Experience and insights from Key Stakeholders

The discussion reviewed guidelines for donor suitability, described experience with manifesting carrier donors from one sperm bank, and addressed the need for carrier screening laboratories to standardize reporting practices, gene panel customization options, and variant interpretation practices.

Faculty: Lauren Isley, MS, CGC and Rawan Awwad, MS,CGC

Case Conference 4: Complex Case Presentations

The discussion addressed how duplications are not always in tandem and how to counsel patients regarding this phenomenon, reviewed clinic policies for the transfer of mutation-positive embryos along with related counseling considerations, and explained how the laboratory identified patients with potential mosaic mutations that had not been previously identified on genetic test reports.

Faculties: Mira Furgoch, MS, LCGC, CCGC;  Ronit Mazzoni, MS LCGC and Rachael Konstantindis, MS, CGC

Case Conference 5: Fundamentals of Cryopreservation

The discussion covered past and present biopsy techniques, reviewed standardized embryo grading and the key features embryologists assess, and examined how decisions are made regarding which embryos qualify for biopsy and the reasoning behind those choices.

Faculty: Shaista Sadruddin, MS

Case Conference 6: Challenging Cases.

The discussion reviewed counseling approaches for potential unknown consanguinity and the associated challenges in diagnosing embryos, identified the difficulties in testing embryos with loss of heterozygosity (LOH) and other familial risks, and explored how counseling strategies changed in the context of complex family histories.

Faculties: Meghan Grow, MS, CGC; Mili Thakur, MD and Allison Boyd, MS, CGC

Case Conference 7: Mental health approach to all things ART

The discussion explored how genetic counseling and mental health professionals interacted within ART and IVF clinics, described what a typical counseling session entailed for individuals undergoing ART, and reviewed the mental health screening processes used to qualify donors as suitable candidates.

Faculty: Melanie Mikkelsen, MSW, LICSW

Case Conference 8: Navigating Segmental Aneuploidy Counseling

The discussion reviewed literature on live birth success rates following the transfer of segmental aneuploid embryos, examined whether the size of the segmental imbalance influenced counseling and transfer decisions, and considered what information couples actually sought when making decisions about transferring embryos with segmental aneuploidies.

Faculty: Hannah N. Green, MS, CGC