Berggren Helena, Hansson Emma, Uvemark Annika, Svensson Henry, Sladkevicius Povilas, Becker Magnus
Department of Clinical Sciences in Malmö, Lund University, Malmö, Sweden.
J Plast Surg Hand Surg. 2012 Apr;46(2):69-74. doi: 10.3109/2000656X.2012.668773.
It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential.
自20世纪80年代初以来，使用超声（US）检测唇裂（CL）（无论有无腭裂（CLP））已成为可能。本研究的目的是评估我们所负责区域内唇裂伴或不伴腭裂以及孤立性腭裂（ICP）的产前诊断准确性。同时还比较了瑞典南部不同超声诊所的筛查方案，涉及胎儿面部评估和CLP的产前诊断。44名（31%）患者通过产前超声诊断，97/144名（67%）在出生时被诊断。如果排除ICP，检出率为44/102（43%）。特异性为100%。在产前诊断的腭裂病例中，25/44（57%）在孕20周前被诊断。根据出生后的结果，19/44（43%）的病例中超声对腭裂的诊断是准确的。我们所负责区域内的所有超声科室都遵循瑞典指南，在妊娠中期18至20周期间提供一次常规超声检查。此外，许多诊所还在孕晚期提供额外的超声检查。我们的检出率与之前的研究结果相似。产前诊断的检出率和准确性可以提高。要实现这一点，增加对腭裂检测的关注、规范扫描方案以及在面部视图不完整时进行重新扫描至关重要。
