Prenatal Ultrasonic Detection of Fetal Cleft Lip and Palate: A 5-Year Retrospective Study

To conduct a descriptive analysis of fetuses with cleft lip and/or palate (CL/P), assessing the prenatal detection proportion across trimesters and describing the subtype distribution, associated malformations, genetic findings, and pregnancy outcomes.

In this retrospective study of 193 cases of CL/P, fetuses were divided into cleft lip (CL), cleft palate (CP), and cleft lip with cleft palate (CLP) according to their anatomical features. According to the clinical characteristics, they were divided into isolated, with ultrasound soft markers, and with structural malformations.

The first-trimester detection rate was 40.9%, CLP was the main type of detection. The overall detection rate throughout gestation was 87.0%, which was significantly higher for CLP (99.3%) than for CL (50%) or CP (56.4%). The CLP subtype was associated with a higher incidence of structural malformations (47.1%) and chromosomal microarray analysis abnormalities (32.6%). Termination rates were significantly higher with CLP (88.6%) compared to CL (14.3%) and CP (17.9%).

Prenatal ultrasound can detect the majority of CL/P cases (87%). Detection of CL/P during the early pregnancy period is feasible, but its utility is currently limited (40.9%), especially for isolated CL and CP, underscoring the need for follow-up examinations in high-risk cases. The CLP subtype carries a higher risk of structural and genetic anomalies that can significantly influence pregnancy decisions.