提高对Joubert综合征（JS）的超声及MRI产前影像学特征的认识。

回顾性分析2014年1月至2022年1月于广东省妇幼保健院确诊的14例JS的产前超声及MRI特征。

14例JS胎儿中，行系统性超声检查17次及MRI检查16次。超声与MRI一致诊断为JS共8例（57%，8/14），不一致共6例（43%，6/14）；17次超声检查与16次MRI检查中，超声诊断JS 7次（41%，7/17）、可疑JS 4次（23%，4/17），MRI诊断JS 13次（81%，13/16）。超声与MRI的影像特征：一致显示典型磨牙征者共7例（50%，7/14），不一致者共7例（50%，7/14）；一致未见或仅见少许小脑蚓部者共10例（71%，10/14），不一致者共4例（29%，4/14）；一致显示第四脑室纵横比＞1者共12例（86%，12/14），不一致者共2例（14%，2/14）；一致显示小脑半球紧密靠拢者8例（57%，8/14）而明显分开者2例（14%，2/14），不一致者4例（29%，4/14）；17次超声检查与16次MRI检查显示“中线裂”分别是3次（18%，3/17）、13次（81%，13/16）；超声显示小脑半球高回声区者12例（86%，12/14），而高回声区被误诊为小脑蚓部者2例（17%，2/12）。

正确认识JS的产前影像学特征及陷阱，有助于提高JS的产前诊断率。

To compare the prenatal ultrasound (US) and magnetic resonance imaging (MRI) characteristics of Joubert syndrome (JS) to enrich the knowledge on JS and improve its diagnosis.

The prenatal US and MRI characteristics of 14 cases of JS at Guangdong Women and Children Hospital from January 2014 to January 2022 were retrospectively analyzed.

Among the 14 cases of JS fetuses, systematic US examination and MRI examination were performed 17 times and 16 times, respectively. A total of 8 cases (57%, 8/14) were diagnosed with JS by both US and MRI, while 6 cases (43%, 6/14) had inconsistent diagnosis results. Among all the 17 ultrasound and 16 MRI examinations, US suggested a diagnosis of JS 7 times (41%, 7/17) and a suspicious diagnosis of JS 4 times (23%, 4/17) while MRI suggested a diagnosis of JS 13 times (81%, 13/16). Regarding the image characteristics of US and MRI, consistent typical molar tooth sign was suggested in 7 cases (50%, 7/14), while inconsistent results were suggested in 7 cases (50%, 7/14); consistent little or no cerebellar vermis was suggested in 10 cases (71%, 10/14), while inconsistent results were suggested in 4 cases (29%, 4/14); consistent aspect ratio of the fourth ventricle >1 was suggested in 12 cases (86%, 12/14), while inconsistent results were suggested in 2 cases (14%, 2/14); consistent closely adjacent cerebellar hemispheres were suggested in 8 cases (57%, 8/14), consistent distinctly separated cerebellar hemispheres were suggested in 2 cases (14%, 2/14), and inconsistent results were suggested in 4 cases (29%, 2/14). Among the 17 ultrasound and 16 MRI examinations, the sign of "midline fissure" was showed 3 times (18%, 3/17) and 13 times (81%, 13/16) by ultrasound and MRI, respectively. Hyperechoic region of the cerebellar hemisphere was shown by US in 12 cases (86%, 12/14), while hyperechoic region was misdiagnosed as vermis in 2 cases (17%, 2/12).

Accurate recognition of the prenatal imaging characteristics and pitfalls of JS is helpful to improve the prenatal detection rate of JS.