Prenatal Diagnostic Centre, Department of Obstetrics and Neonatology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), AUSL Reggio Emilia, Reggio Emilia, Italy.
Department of Obstetrics and Gynecology, Federal University of Triângulo Mineiro (UFTM), Uberaba, Brazil.
J Clin Ultrasound. 2023 Feb;51(2):346-361. doi: 10.1002/jcu.23403.
Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.
唇裂,伴或不伴腭裂,是最常见的先天性颅面畸形,也是全世界第二大常见的出生缺陷。小颌畸形是一种罕见的面裂畸形,其特征为下颌骨小而发育不良,常伴有下颌后缩。中孕期和晚孕期产前超声是筛查和识别胎儿口面畸形的标准方式,在低危人群中,所有类型的唇裂的检出率为 0%至 73%。产前超声检查也可以在妊娠早期进行。鉴于产科超声检查胎儿面部的潜在局限性,如胎儿体位不佳、周围骨骼遮挡、面部周围羊水减少、胎儿四肢、脐带和胎盘的介入以及母体体型/腹部瘢痕等,辅助成像方式的使用可以增强高危妊娠中颅面畸形的产前诊断。胎儿磁共振成像(MRI)是一种对产前诊断口面畸形有用的二线检查方法,其汇总敏感性为 97%。在本文中,我们讨论了超声和胎儿 MRI 在评估上唇、 palate 和下颌畸形中的作用。