DOI: 10.1177/27325016261485451 ISSN: 2732-5016

Prenatal Diagnosis of Orofacial Clefts: Impact on Care Timelines and Patient-Reported Outcomes

Thalia Le, Diego A. Gomez, Emily Feng, Isalina Colsman, Cindy Li, Brooke French, David Y. Khechoyan, Phuong D. Nguyen
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Introduction:

Advances in prenatal imaging have improved antenatal detection of orofacial clefts. Although prenatal diagnosis has been associated with earlier referral and treatment, its long-term psychosocial impact remains unclear.

Methods:

A retrospective chart review was conducted of patients seen at a tertiary craniofacial center with a diagnosis of cleft lip and/or palate. Demographic, clinical, and surgical data were collected. Inclusion criteria included completion of CLEFT-Q or FACE-Q patient-reported outcome measures at ≥8 years of age. Comparative analyses evaluated differences in clinical variables and psychosocial outcomes between patients with and without a prenatal diagnosis.

Results:

Forty-one patients met inclusion criteria, including 23 with a prenatal diagnosis and 18 without. There were no significant differences in gender distribution (65% vs 44% male, P  = .183) or utilization of pre-surgical therapy (17% vs 17%, P  = 1.000). Prenatally diagnosed patients were more likely to have private insurance (52% vs 22%, P  = .052) and presented significantly earlier for initial craniofacial consultation (26.4 vs 171.2 days, P  = .038). However, timing of primary surgical interventions was comparable between the 2 groups. Cleft phenotype distribution differed significantly ( P  = .025) with higher rates of CLP and isolated CL with prenatal diagnosis (74% vs 50% and 17% vs 6%, respectively), whereas isolated CP was more common in the postnatal group (44% vs 9%). Psychosocial outcomes as measured by CLEFT-Q and FACE-Q did not differ significantly. The average age at survey response was 11.2 ± 2.8 years. A non-significant trend toward lower appearance-related scores was observed in the prenatal group.

Conclusions:

Prenatal diagnosis was associated with earlier evaluation and higher rates of CLP and isolated CL but did not confer measurable differences in patient-reported psychosocial outcomes. Larger prospective studies are needed to clarify its psychosocial impact on both children and caregivers.

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