To evaluate the rates of prenatal ultrasonic diagnosis of cleft lip and palate prenatal based on birth defect monitoring.

Based on the samples of cleft lip and palate reported in 57 birth defect monitoring hospitals in Guangdong Province from 2018 to 2022, descriptive analysis was conducted for the prenatal ultrasonic diagnosis rate and annual change trend of congenital cleft lip and palate, and the influences of complicated malformations and gestational age on prenatal diagnosis, and the combination of ultrasound diagnosis and other diagnostic methods used in the diagnostic process.

From 2018 to 2022, a total of 2 631 children with cleft lip and palate were collected from 57 birth defect monitoring hospitals, including 1 475 males, 1 092 females and 64 gender unknown cases. The total prenatal ultrasonic diagnosis rate was 67.96% (1 788/2 631) , among which the prenatal diagnosis rate of cleft lip combined with cleft palate was 87.73%, and those of cleft lip and left palate were 59.47% and 31.64%, respectively. There was no statistical significance in the annual prenatal ultrasonic diagnosis rate of cleft palate, cleft lip combined with cleft palate. The difference was statistically significant in the annual prenatal ultrasonic diagnosis rate of cleft lip by Chi-square trend test (χ² = 7.69, P = 0.005) . The total prenatal diagnosis rate was 73.59% (χ² = 0.06, P = 0.80) and 66.34% (χ² = 0.14, P = 0.71) for the children with and without complicated malformations. More than 60% of all types of cleft lip and palate were diagnosed in the second trimester (14 ~ 27 weeeks) of pregnancy, and there was no significant difference in the rate of different types of cleft lip and palate. There were statistical differences in the rate of prenatal ultrasonic diagnosis of cleft lip and palate in the first trimester (≤13 weeeks) and the third trimester (≥28 weeks) , but the sample size was small and had no reference significance. The combined rate of prenatal ultrasound diagnosis was 19.85% (355/1) for clinical diagnosis methods, 5.87% (105/1 788) for biochemical tests, 3.13% (56/1 788) for genetic methods, 0.50% (9/1 788) for other methods and 0.34% (6/1 788) for postmortem examination, respectively.

The rate of prenatal diagnosis of cleft lip and palate was stable, and the rate of prenatal ultrasound diagnosis of cleft palate was low. It is necessary to explore clinical pathways to improve prenatal diagnosis.