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Abstract
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.
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1 King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia (GRID:grid.412149.b) (ISNI:0000 0004 0608 0662); Ministry of the National Guard-Health Affairs, Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Riyadh, Saudi Arabia (GRID:grid.415254.3) (ISNI:0000 0004 1790 7311); King Abdullah International Medical Research Center, Riyadh, Saudi Arabia (GRID:grid.452607.2) (ISNI:0000 0004 0580 0891)
2 King Khalid University, Department of Public Health, College of Applied Medical Sciences, Abha, Saudi Arabia (GRID:grid.412144.6) (ISNI:0000 0004 1790 7100)
3 King Abdullah Specialist Children Hospital, Ministry of the National Guard-Health Affairs, Department of Pediatric Neurology, Riyadh, Saudi Arabia (GRID:grid.416641.0) (ISNI:0000 0004 0607 2419)
4 King Abdullah Specialist Children Hospital, Ministry of the National Guard-Health Affairs, Department of Genetics and Precision Medicine, Riyadh, Saudi Arabia (GRID:grid.416641.0) (ISNI:0000 0004 0607 2419); Ministry of the National Guard-Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia (GRID:grid.415254.3) (ISNI:0000 0004 1790 7311)
5 Ministry of the National Guard-Health Affairs, Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Riyadh, Saudi Arabia (GRID:grid.415254.3) (ISNI:0000 0004 1790 7311)
6 King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Department of Pediatrics, Riyadh, Saudi Arabia (GRID:grid.449346.8) (ISNI:0000 0004 0501 7602)