EP06.32: Diagnosis and outcome of orofacial clefts in the Gennet screening centre 2018–2023

Facial cleft defects are among the most common congenital developmental defects. In this study we evaluate the outcome of pregnancy and the concordance of ultrasound diagnosis with clinical findings after birth. Diagnosis was made in I or II trimester. Invasive examination was recommended to all families during genetic consultation. After excluding chromosomal aberration, consultation with a plastic surgeon was recommended. After birth, the plastic surgeon compared the concordance of the ultrasound diagnosis with the postnatal clinical findings. During 5 years (2018-2023) there were 81 facial clefts diagnosed (26% in I. trimester, 74% in II. trimester). The mean week of diagnosis was 17.7WG (11.-25.WG). Invasive examination was performed in 89% (AMC 75%, CVS 24%, PUBS 1%). Genetic syndromes included orofacial defect in 32% (26): T 13, T 18, 69 XXY, microdeletion, microduplication, exome). An additional structural defect was associated in 5%(4). In 63% (51) cleft was an isolated defect. 78% (41) families underwent consultation with a plastic surgeon. Of these 81 families, 45 (56%) made decision to undergo termination of pregnancy (TOP), of which in 18 (40%) cases orofacial cleft was an isolated defect. The mean week of TOP was 18.2WG (11.-28.WG). 36 pregnancies continued. From this group we found 30 newborns with clefts to compare ultrasound diagnosis with clinical diagnosis. Although there were more or less expressed tissue bridges in 1/3 of all cases, in 28 cases the USG diagnosis was exact. 29 children were operated neonatally. In our study, the TOP rate was high even when the defect was isolated, 35% (18/51). Outcome was traced in 83% (30/36). Concordance between ultrasound diagnosis and clinical findings was 94% (28/30). Interdisciplinary cooperation is important in prenatal diagnosis – gynecologist – geneticist – plastic surgeon. Only in this way the family will get enough information.