Guichoud Yohan, El Ezzi Oumama, de Buys Roessingh Anthony
Service de Chirurgie de l'Enfant et de l'Adolescent, Département Femme Mère Enfant, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Diagnostics (Basel). 2023 Jul 26;13(15):2479. doi: 10.3390/diagnostics13152479.
Precision of cleft lip and/or palate antenatal diagnosis plays a significant role in counselling, neonatal care, surgical strategies and psychological support of the family. This study aims to measure the accuracy of antenatal diagnosis in our institution and the detection rate of cleft lip and/or palate on routine morphologic ultrasonography. In this retrospective observational study, we compared antenatal and postnatal diagnosis of 233 patients followed in our unit. We classified our patients according to the Kernahan and Stark's classification system: Group 1: facial cleft including labial and labio-maxillary clefts; Group 2: facial cleft including total, subtotal and submucous palatal clefts; Group 3: labio-maxillary-palatal clefts. Out of 233 patients, 104 were antenatally diagnosed with a facial cleft, i.e., an overall detection rate of 44.6%. The diagnosis was confirmed at birth in 65 of these patients, i.e., an overall accuracy of 62.5%. Of the 67 children (29.2%) in Group 1, the screening detection rate was 58.2% with an antenatal diagnostic accuracy of 48.7%. Of the 97 children (41.6%) in Group 2, the screening detection rate was 2% with an antenatal diagnostic accuracy of 50%. Of the 69 children (29.6%) in Group 3, the screening detection rate was 91.3% with an antenatal diagnostic accuracy of 71.4%. Our study demonstrates a relatively poor diagnostic accuracy in prenatal ultrasound, where the diagnosis was inaccurate in one third to one half of patients. It showed great variability in the screening detection rate depending on the diagnostic group observed, as well as a low rate of detection of palatal clefts.
唇裂和/或腭裂产前诊断的准确性在咨询、新生儿护理、手术策略及家庭心理支持方面发挥着重要作用。本研究旨在衡量我院产前诊断的准确性以及常规形态学超声检查中唇裂和/或腭裂的检出率。在这项回顾性观察研究中，我们比较了在我院接受随访的233例患者的产前和产后诊断情况。我们根据克纳汉和斯塔克分类系统对患者进行分类：第1组：面部裂隙，包括唇裂和唇-上颌裂；第2组：面部裂隙，包括完全性、次全性和黏膜下腭裂；第3组：唇-上颌-腭裂。在233例患者中，有104例产前诊断为面部裂隙，即总体检出率为44.6%。其中65例患者出生时诊断得到证实，即总体准确率为62.5%。在第1组的67例儿童（29.2%）中，筛查检出率为58.2%，产前诊断准确率为48.7%。在第2组的97例儿童（41.6%）中，筛查检出率为2%，产前诊断准确率为50%。在第3组的69例儿童（29.6%）中，筛查检出率为91.3%，产前诊断准确率为71.4%。我们的研究表明，产前超声诊断准确性相对较差，三分之一至一半的患者诊断不准确。根据观察的诊断组不同，筛查检出率差异很大，腭裂的检出率也较低。
