分析13例产前诊断为Joubert综合征(JS)的产前影像学表型和基因型,所有这些都接受了磁共振成像(MRI),超声,和基因检测。产前MRI诊断为JS10例,具有典型的磨牙征(MTS),而产前超声诊断或可疑诊断为JS的11例,有典型或轻度MTS的10例。10例发现JS相关基因突变和其他产前JS影像学表型,包括两种情况下的OFD1[小脑疣(CV)缺失,后颅窝扩张,脑室肿大,多指,皮质发育(MCD)畸形,和持续的左上腔静脉],两种情况下的TMEM67(CV缺失,多指,高回声肾或多囊肾,后颅窝扩张,和脑室肿大),两种情况下的CC2D2A(CV缺失,多指,MCD,call体的发育不全,脑膨出和脑积水,脑室肿大,和后颅窝扩张),RPGRIP1L在一种情况下(CV缺失),一种情况下的TCTN3(CV缺失,多指,MCD,和后颅窝扩张),CEP2901例(CV缺失和多囊肾),和NPHP1在一种情况下(CV缺失)。JS的产前诊断提出了许多挑战,包括未知意义的变异,产前成像中缺乏功能评估,在产前评估中不清楚表型-基因型关系,以及对JS标志的不正确识别,MTS,在产前成像中,尤其是超声波。虽然联合MRI,超声,外显子组测序有助于提高JS的产前诊断,仍然存在重大挑战。
Prenatal imaging
phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing. Prenatal MRI diagnosed 10 cases as JS with a typical molar tooth sign (MTS), while prenatal ultrasound diagnosed or suspiciously diagnosed 11 cases as JS with typical or mild MTS in 10 cases. Mutations in JS-related genes and other prenatal JS imaging
phenotypes were identified in 10 cases, including OFD1 in two cases [cerebellar vermis (CV) absence, posterior fossa dilation, ventriculomegaly, polydactyly, malformations of cortical development (MCD), and persistent left superior vena cava], TMEM67 in two cases (CV absence, polydactyly, hyperechoic kidneys or polycystic kidneys, posterior fossa dilation, and ventriculomegaly), CC2D2A in two cases (CV absence, polydactyly, MCD, agenesis of the corpus callosum, encephalocele and hydrocephalus, ventriculomegaly, and posterior fossa dilation), RPGRIP1L in one
case (CV absence), TCTN3 in one
case (CV absence, polydactyly, MCD, and posterior fossa dilation), CEP290 in one
case (CV absence and polycystic kidney), and NPHP1 in one
case (CV absence). The prenatal diagnosis of JS presents a number of challenges, including the variants of unknown significance, the lack of functional assessment in prenatal imaging, unclear phenotype-genotype relationships in prenatal evaluation, and the incorrect identification of the JS hallmark, the MTS, in prenatal imaging, especially on ultrasound. Although combined MRI, ultrasound, and exome sequencing could help improve the prenatal diagnosis of JS, there still exist significant challenges.