Moreira Tatiana, Dias Margarida, Von Hafe Madalena, Curval Ana Rita, Ramalho Carla, Maia Ana Maria, Moura Carla Pinto
Department of Paediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal.
Transdisciplinary Team of Cleft Lip and Palate, Centro Hospitalar Universitário de São João, Porto, Portugal.
Congenit Anom (Kyoto). 2023 Nov;63(6):195-199. doi: 10.1111/cga.12538. Epub 2023 Aug 31.
Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.
口腔颌面裂的产前诊断有助于为产前护理和分娩提供充分的咨询和规划。2001年，根据政府指导方针，二维超声筛查在葡萄牙得到普遍应用，2007年后可获得更先进的超声检查。本研究旨在描述口腔颌面裂患者家族史的患病率，并分析2001年之前、2001年至2007年以及2007年之后出生患者的产前诊断情况。对一家三级医院跨学科团队随访的一组口腔颌面裂患者进行回顾性分析。共识别出672例口腔颌面裂：40.9%为孤立性腭裂，38.1%为唇腭裂，19.7%为唇裂，1.3%为非典型裂；57.1%为男性。家族史的患病率为26.0%，其中30.9%有可识别的综合征。2001年之前出生的患者中，13.7%有产前诊断；2001年至2007年出生的患者中，32.6%的口腔颌面裂在子宫内被诊断出；2007年之后出生的儿童中，产前诊断率增至47.1%。在我们的研究中，约四分之一的儿童有阳性家族史。自葡萄牙实施普遍超声筛查以来，子宫内发现的口腔颌面裂更多（42.5%对13.7%；p<0.05），在有了先进超声检查后，产前诊断率增至47.1%（对2007年之前的20.4%；p<0.05）。在所有产前诊断的口腔颌面裂中，超声对唇腭裂（65.4%）和唇裂（24.8%）的诊断准确性更高。腭裂在子宫内最难检测到（9.3%）。葡萄牙的产前超声筛查在技术上有所发展，从而对口腔颌面裂的识别具有更高的诊断准确性，能够为家长提供更好的咨询。
