Diagnostic Yield of Clinical Genetic Testing in a Cohort of Pediatric Patients Undergoing Fetal Alcohol Spectrum Disorder Evaluation

Document Type

Conference Proceeding - Restricted Access

Publication Date

5-8-2026

Abstract

In utero ethanol exposure can affect facial features, growth, and neurodevelopment, producing a range of clinical findings collectively termed fetal alcohol spectrum disorder (FASD). Diagnosis is clinical and may overlap with genetic disorders. Genetic testing can help identify or exclude alternative etiologies, informing prognosis, early recognition of associated medical risks, and supportive interventions. Currently, no practice guidelines define the role of genetic testing in FASD evaluation. This project aimed to address this gap by characterizing patients referred to Corewell Health Medical Genetics and reviewing their diagnostic course to determine: (a) which patients received genetic testing, (b) which testing modalities were used, and (c) the diagnostic yield of genetic testing in this population.

This project was reviewed by the Corewell Health IRB and was determined to be exempt from review and approval. Patients aged 0-17 years were included. Retrospective chart review of electronic medical records was employed to review their demographics evaluations, clinical recommendations, and (as applicable) genetic testing course. Data were collected in RedCAP. Descriptive statistical analysis was performed using Microsoft Excel.

Among 252 patients evaluated for FASD, 101 (40.1%) were female. Mean age at time of evaluation was 7.5 (SD 4.3) years. The most common referral indications were behavioral concerns (79.8%) and developmental delay (24.6%). Prenatal ethanol exposure was confirmed for 104 patients, 55 of whom had polysubstance involvement. Based on the Hoyme Diagnostic Criteria, 133 patients (52.8%) received a clinical diagnosis of an FASD. Regardless of FASD diagnosis, 195 patients (77.4%) were offered genetic testing and completed in 167 of those patients, with diagnostic findings in 15 (9.0%) patients and Variant of Uncertain Significance in 33 (19.7%) patients. Diagnoses included chromosomal variants (e.g., deletions on chromosome 15 or 16) as well as single-gene findings (e.g., NRXN1 gene). 20 patients had an FASD diagnosis and a genetic diagnosis.

We reviewed those referred for FASD evaluation and found that only half met FASD diagnostic criteria. Limited documentation of in utero ethanol exposure was common, and histories were often incomplete. When genetic testing was completed, results showed a diagnostic yield similar to populations with congenital anomalies or neurodevelopmental disorders. Patients with a diagnosis of FASD and a genetic etiology for neurobehavioral differences were also identified. This underscores diagnostic challenges in FASD evaluations and informs future genetic testing recommendations.

Comments

2026 Research Day Corewell Health West, Grand Rapids, MI, May 8, 2026. Abstract 2034

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