这项研究的主要目的是估计后颅窝异常(PFA)的发生率并评估阿卜杜勒阿齐兹国王医疗城(KAMC)的相关结果。利雅得.回顾性分析2017-2021年KAMC所有产前超声诊断为PFA的胎儿。PFA包括Dandy-Walker畸形(DWM),大水箱(MCM),布莱克囊袋囊肿(BPC),和孤立的Vermian发育不全(VH)。65例PFA为41.5%DWM,46.2%MCM,10.8%VH,和1.5%的BPC。2017年、2018年、2019年、2020年和2021年的年发病率分别为每1000次解剖扫描2.48、2.64、4.41、8.75和1.71。患有DWM的婴儿似乎具有较高比例的相关中枢神经系统(CNS)异常(70.4%vs.39.5%;p值=0.014)和癫痫发作比其他(45%与17.9%;p值=0.041)。10例基因检测异常的患者显示单基因突变导致中枢神经系统异常,包括MPL中的致病变体,C5orf42,ISPD,PDHA1,PNPLA8,JAM3,COL18A1和PNPLA8基因中不确定意义的变体。我们的结果表明,最常见的PFA是DWM和MCM。常染色体隐性致病突变是沙特PFA患者遗传疾病的主要原因。
The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake\'s pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.