ACOG and Universal Screening for Cystic Fibrosis – What You Need to Know

Learning Objectives and CME/Disclosure Information

This activity is intended for healthcare providers delivering care to women and their families.

After completing this activity, the participant should be better able to:

1. Apply ACOG recommendations for CF screening to your prenatal carrier screening program
2. List who should be offered full gene sequencing

Estimated time to complete activity: 0.25 hours

Faculty:

Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project

Disclosure of Conflicts of Interest

Postgraduate Institute for Medicine (PIM) requires instructors, planners, managers and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to PIM policy. PIM is committed to providing its learners with high quality CME activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

Faculty: Susan J. Gross, MD, receives consulting fees from Genoox, Inc., and has financial interest in The ObG Project, Inc.

Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.

Method of Participation and Request for Credit

Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Dec 31 2020, participants must read the learning objectives and faculty disclosures and study the educational activity.

If you wish to receive acknowledgment for completing this activity, please complete the post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.

For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.

Joint Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Medical Education

Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Continuing Nursing Education

The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.

Read Disclaimer & Fine Print

CLINICAL ACTIONS:

Genetic screening for Cystic Fibrosis (CF) has been recommended by ACOG and ACMG for over a decade.

Offer CF screening to all women of reproductive age, not just those in higher risk groups
Document previous CF screening results
- Genetic testing does not need to be repeated in subsequent pregnancies if already on record
Expanded mutation panels beyond the ‘ACMG 23’ can be considered to increase sensitivity
- DNA sequencing of the CFTR gene is not considered ‘appropriate’ for routine carrier screening and should be reserved for particular circumstances in conjunction with genetic counseling (see below in key points)
Refer for genetic counseling if both partners are CF carriers
- CF is an autosomal recessive disorder and if both partners are affected, the risk to offspring is ¼ or 25%

SYNOPSIS:

Initially, prenatal screening for CF was limited to women from high risk groups, non-Hispanic whites and those of Ashkenazi Jewish background. However, as it becomes more difficult to identify specific racial groups and ethnicities, ACOG guidance is clear that all women of reproductive age should be screened to determine their carrier status. There are several genetic tests currently available that can sequence the entire CFTR gene, providing a clinical report for hundreds of CF disease causing mutations. While Committee Opinion 691 still mentions the original ACMG 23 mutation panel, expanded mutation panel analysis can be considered to help improve test sensitivity particularly among non-Caucasians.

KEY POINTS:

Full gene sequencing of the CFTR gene should be reserved for patients who meet the following criteria:
- Personal history of CF
- Family history of CF
- Males with CBAVD
- Newborns with positive newborn screening results when mutation panel testing is negative
Newborn screening for CF in newborns does not replace maternal screening
- A negative newborn screen for CF cannot identify parental carriers
Diagnosis code: Z31.430