Course : ACMG Genomics Case Conference November 2018

Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS

Hosted by Connective Tissue Gene Tests (CTGT)

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Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description

Lethal skeletal dysplasias are typically identified by routine prenatal ultrasound; however, determining the exact diagnosis by ultrasound alone can be challenging. This webinar will discuss one laboratory’s experience with clinical molecular genetic testing of prenatally identified skeletal dysplasias using targeted NGS panels. The presentation will describe the value of targeted testing in this setting, the genes most commonly responsible for these disorders, special considerations for classification of variants in these genes, and the importance of continuous evaluation of test results to improve the clinical sensitivity of targeted panels. Several cases will be presented as representative examples to illustrate important points.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: November 14, 2018
Expiration Date: November 14, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)

CMG Member with educational credits ($15)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests
2. Identify clinical indications for whole exome/whole genome sequencing
3. List determinants used to assess the probability of a variant’s pathogenicity
4. Elaborate on the importance of pre-test counseling and consent
6. Discuss the utility of targeted panels for prenatal molecular diagnosis of skeletal dysplasias
7. Identify the genes most commonly responsible for lethal skeletal dysplasias
8. Recognize the importance of gene specific guidelines for sequence variant interpretation
9. Describe the value of continuously evaluating test results to improve the clinical sensitivity of targeted panels

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