This product is not currently available
Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS Panels


This is a virtual event, accessible online and over the phone. Access instructions will be provided after registration.



Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS Panels - Hosted by Connective Tissue Gene Tests (CTGT)

The ACMG Genomics Case Conference series is supported in part by an educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.



Genomic case conferences are live 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

  1. 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.
  2. 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.


Learning objectives

At the conclusion of the series, 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


Session learning objectives

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

  1. Discuss the utility of targeted panels for prenatal molecular diagnosis of skeletal dysplasias
  2. Identify the genes most commonly responsible for lethal skeletal dysplasias
  3. Recognize the importance of gene specific guidelines for sequence variant interpretation
  4. Describe the value of continuously evaluating test results to improve the clinical sensitivity of targeted panels


The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation:

The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

HIPAA Compliance

The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.

Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:

Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.
  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.

  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.

Disclosure Statement:

The American College of Medical Genetics and Genomics has implemented a process where everyone who is in a position to influence and/or control the content of a continuing education activity must disclose all relevant financial relationships with any commercial interest within the past 12 months and any conflicts must be resolved prior to the activity. Participants of educational programs must be informed of an organizer’s and/or a presenter’s academic and professional affiliations and existence of any relevant financial relationship a presenter has with any proprietary entity producing heath care goods or services consumed by, or used on patients, with the exemption of non-profit or government organization and non-health care related companies. The intent of this disclosure is not to prevent a speaker from making a presentation. This policy allows the participant to be fully knowledgeable in evaluating the information being presented. All disclosures have been reviewed by the Education Committee COI sub-committee or the Executive Director and CME Associate Director and conflicts of interest are disclosed. Disclosure includes any relevant relationship that may potentially bias the planning of the continuing education activity or may potentially bias one’s presentation or which, if known, could give the perception of bias. These situations may include but are not limited to:


  1. Major stockholder/ownership interest
  2. Grant/Research Support (External)
  3. Salary/Employment
  4. Royalty(ies)
  5. Honoraria
  6. Consultant/consulting fees/other remuneration     
  7. Speaker’s bureau
  8. Non-remunerative positions of influence such as officer, board member, trustee, or public spokesperson
  9. Receipt of intellectual property
  10. Other _________________________________________


Financial Disclosures

Planning Committee

Monica Giovanni, MS, CGC

ACMG Education Committee Chair and Liaison to the Program Committee

Nothing to disclose


Anne Slavotinek, MB.BS., PhD, FACMG

University of California, San Francisco (UCSF)

Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate


John Bernat, MD, PhD, FACMG

University of Iowa

Disclosures: Receives grant/research support from Sanofi Genzyme, Shire and Protalix


Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG


Presenter and Disclosures


Kerry K. Brown, Ph.D., FACMG

Associate Medical Director, Connective Tissue Gene Tests (CTGT)

Disclosures: Salary/Employment; Connective Tissue Gene Tests


Off-label Uses of Products

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.

Disclaimer: ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

The ACMG Genomics Case Conference series is supported in part by an educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.



Participation Instructions


  1. Register and Purchase the course at
  2. Continuing education credit claim
    1. Complete the course education evaluation
    2. Claim certificate


Technical Requirements

All you need to access our online conferencing is access to the Internet. No software downloads required.
Mac and PC Compatible.  Our webinars work equally well on PCs and Macs, in Internet Explorer or Firefox (or any other web browser you may use).


Continuing Education

1.0 CME
Production Date:


*You cannot purchase or claim educational credits after the webinar.