Grand Rounds: Updates in prenatal testing for the pediatric provider

Objectives (Educational Content) :

1. Describe common genetic tests offered during pregnancy.

2. Illustrate impact of prenatal testing on postnatal care.

3. Determine what types of prenatal genetic test results warrant pediatric genetics referral.

Target Audience:

General pediatricians, family physicians, nurse practitioners, physician assistants, social workers, psychologists, and nurses.

Identified Gap:

Rapid advances in prenatal genetic testing have increased the availability and complexity of genetic information prior to birth, yet many pediatric providers have limited knowledge of the types of prenatal tests commonly performed, how to interpret reported results, and how these findings should guide postnatal evaluation, anticipatory guidance, and care planning. Consequently, clinically meaningful prenatal genetic information may be underutilized or misapplied in pediatric practice, leading to delayed recognition of conditions, missed opportunities for early intervention, and inconsistent or inappropriate referral to pediatric genetics services. This represents a professional practice gap between current pediatric practice and what is achievable based on current professional knowledge, highlighting the need to improve provider knowledge, competence, and performance in integrating prenatal genetic testing results into postnatal care.

Estimated Time to Complete the Educational Activity:

1 hour(s)

Expiration Date for CE/CME Credit:

02-19-2027

Method of Participation in the Learning Process:

The learner will view the presentation, successfully complete a post-test and complete an activity evaluation.

Evaluation Methods:

All learners must successfully complete a post-test, as well as an activity evaluation, to claim CE/CME credit.

Disclosure:

The following presenter has indicated that a financial relationship with an ineligible company: Kimberly Wallis, MS, CGS-BridgeBio The following planning committee member has indicated that a financial relationship with an ineligible company: Maria Cristina Victorio, MD-Merck All relationships have been mitigated. The remaining planning committee/CME committee members have indicated that they have no financial relationships with any ineligible companies.

Accreditation Statement:

Children’s Hospital Medical Center of Akron is accredited by the Ohio State Medical Association to provide continuing medical education for physicians.

CHMCA designates this enduring material activity for a maximum of 1.0 AMA PRA Category 1 Credit TM.  Physicians should only claim the credit commensurate with the extent of their participation in the activity.

Bibliography:

1. Westemeyer M, Saucier J, Wallace J, Prins SA, Shetty A, Malhotra M, Demko ZP, Eng CM, Weckstein L, Boostanfar R, Rabinowitz M, Benn P, Keen-Kim D, Billings P. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med. 2020 Aug;22(8):1320-1328. doi: 10.1038/s41436-020-0807-4. Epub 2020 May 5. Erratum in: Genet Med. 2020 Jul;22(7):1282.

2. Screening for Fetal Chromosomal Abnormalities. Acog.org. Published 2026. https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2026/01/screening-for-fetal-chromosomal-abnormalities

3. Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb;25(2):100336. doi: 10.1016/j.gim.2022.11.004. Epub 2022 Dec 16. Erratum in: Genet Med. 2023 Aug;25(8):100874. doi: 10.1016/j.gim.2023.100874. PMID: 36524989.