EP06.53: Current status and challenges in the prenatal diagnosis of cleft lip and palate: a retrospective study at Kanagawa Children's Medical Center

In Japan, cleft lip and palate (CLP) are common congenital anomalies often detected postnatally despite prenatal ultrasound screenings during maternal check-ups. The early diagnosis of CLP is important for effective postnatal treatment planning, emphasising the hospital's protocol of initiating nasoalveolar molding from the second day of birth at Kanagawa Children's Medical Center (KCMC). Therefore, referral to the hospital for suspected cases during maternal check-ups elsewhere is recommended. This study examines the current status of referral rates for CLP during the fetal period to KCMC and evaluates the diagnostic rate and classification accuracy of CLP during fetal ultrasound at KCMC. Over a four-year period from 2019 to 2022, we surveyed the presence or absence of fetal diagnosis, timing of diagnosis, classification of CLP during fetal diagnosis at our hospital and postnatal classification in patients with CLP who presented for initial consultation before first surgery in our hospital's plastic surgery department. Among a total of 196 initial consultation patients, 106 were referred to our hospital before birth. Among patients without referral for CLP, 47 had fetal diagnosis at other hospitals, but the classification of the cleft type in the prenatal diagnosis was unknown in all cases. The classification of cleft lip and palate during fetal ultrasound at our hospital was cleft lip in 17 cases, cleft lip and alveolus in 25 cases, and cleft lip and palate in 64 cases. Prenatal diagnosis accuracy was 60% for cleft lip, 56% for cleft lip and alveolus, and 85.9% for cleft lip and palate. The accuracy of fetal diagnosis of CLP remains low. Determining the presence of cleft lip is possible, but it is difficult to determine the presence of cleft alveolus and cleft palate. This impacts postnatal treatment protocols and support for breastfeeding in the neonatal period. Therefore, improving the accuracy of prenatal diagnosis is a future challenge.