Imaging Prenatal Diagnosis of Cleft Lip and Palate in Brazil: Frequency and Familial Impact

Background and aim: The ultrasound evaluation of the fetal face for the detection of orofacial clefts is the most common diagnosis. This study analyzed the frequency of patients whose orofacial clefts diagnosed prenatally. Concordance of prenatal diagnosis and postnatal outcomes, and the impact of prenatal diagnosis.
Materials and methods: The sample was composed of 200 children (age of 0-36 months) relatives, with any orofacial cleft, regardless of ethnicity, gender, or socioeconomic background. A self-administered questionnaire responded, and descriptive statistics and Fisher exact test analyzed the results.
Results: Among the 200 children, 25.5% had diagnosed prenatally. There was concordance between prenatal diagnosis and outcome in 62.7% of cases, which is similar for all clefts (p=0.81). Less than entirely accurate prenatal diagnosis occurred in 37.2%. Under the 51 families that had a prenatal diagnosis, 66.6% considered the opportunity as favorable. Among the convenient reasons, 58.8% of the families mentioned the possibility to prepare themselves.
Conclusion: One-quarter of patients diagnosed prenatally and less than entirely accurate findings occurred in more than a third of the cases diagnosed. Despite that, families often report prenatal diagnosis as helpful for the acceptance of the condition and psychological preparation before the child is born.