探讨基于出生缺陷监测的先天性唇腭裂超声产前确诊率。

以广东省57家出生缺陷监测医院2018—2022年工作中报告的唇腭裂患儿为样本，描述性分析先天性唇腭裂的产前确诊率和年度间变化趋势，以及并发畸形和孕周对产前确诊的影响，超声诊断与其他诊断方法的组合使用情况。

2018—2022年广东省57家出生缺陷监测医院共收集唇腭裂患儿2 631例，其中男1 475例、女1 092例，性别不明64例，合计产前确诊率67.96%（1 788/2 631），唇裂合并腭裂、唇裂和腭裂的产前确诊率分别为87.73%、59.47%和31.64%，其中腭裂、唇裂合并腭裂的年度产前确诊率差异无统计学意义，唇裂的年度产前确诊率经卡方趋势性检验差异有统计学意义（χ² = 7.69，P = 0.005）。按有无并发畸形分类，有并发畸形的患儿其产前确诊率合计为73.59%（χ² = 0.06，P = 0.80），无并发畸形的患儿其产前确诊率合计为66.34%（χ² = 0.14，P = 0.71）；超过60%各类型唇腭裂产前确诊分布在孕中期（14 ~ 27周），孕中期各类型唇腭裂产前确诊率差异均无统计学意义。孕早期（≤13）和孕晚期（≥28）的唇腭裂各类型的产前确诊率有差异，但样本量较少无参考意义。产前超声诊断与其他畸形诊断方法的组合使用率分别为临床诊断19.85%（355/1 788）、生化检查5.87%（105/1 788）、遗传学3.13%（56/1 788）、其他影像学0.50%（9/1 788）和尸解0.34%（6/1 788）。

研究期间唇腭裂产前确诊率稳定，单纯腭裂的产前超声确诊率较低，应探索提高产前确诊率的临床路径。

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.