Şeker Erdal, Aslan Batuhan, Aydın Ezgi, Koç Acar
Department of Obstetrics and Gynecology, Division of Perinatology, Ankara University Faculty of Medicine, Ankara, Turkey
Department of Obstetrics and Gynecology, Ankara University Faculty of Medicine, Ankara, Turkey
J Turk Ger Gynecol Assoc. 2023 Mar 15;24(1):28-32. doi: 10.4274/jtgga.galenos.2022.2022-7-13. Epub 2022 Dec 30.
The diagnosis of posterior fossa abnormalities (PFA) in the intrauterine period and association with pregnancy outcomes are still controversial. PFA is generally referred to maternal-fetal medicine specialists. The primary purpose of PFA diagnosis is to screen for other accompanying abnormalities, provide prognostic information to families, and discuss the termination option.
This retrospective study was conducted in patients diagnosed with PFA between January 2013 and September 2020 in a tertiary perinatology clinic. All patients underwent routine second-trimester ultrasound screening and definitive diagnosis was made by fetal magnetic resonance imaging (MRI) in the presence of a suspected anomaly.
There were 164 fetal MRIs for fetal abnormalities during the study period and 22 (13.4%) were diagnosed with a PFA on fetal MRI. Indications for fetal MRI included four (18%) with Mega Cisterna Magna, two (9.1%) with rhomboencephalosynapsis, and thirteen (59.1%) with Vermian Hypoplasia-Dandy-Walker variant. Two patients, with neural tube defects and lumbosacral neural-tube defect are still alive. However, iniencephaly was detected in last patient who died in the postnatal period.
Diagnosis of PFA abnormalities is complex, and the prognosis in PFA is often unclear. The prognosis is not affected by maternal and fetal factors and allows the recognition of additional accompanying abnormalities. Fetal MRI is an imaging method that can provide retrospective examination and research, especially in pregnancies with poor prognoses.
宫内期后颅窝异常（PFA）的诊断及其与妊娠结局的关联仍存在争议。PFA通常会转诊给母胎医学专家。PFA诊断的主要目的是筛查其他伴随异常，为家庭提供预后信息，并讨论终止妊娠的选择。
本回顾性研究针对2013年1月至2020年9月在一家三级围产医学诊所被诊断为PFA的患者进行。所有患者均接受了常规孕中期超声筛查，在怀疑有异常的情况下通过胎儿磁共振成像（MRI）进行明确诊断。
研究期间共有164例胎儿因胎儿异常接受了MRI检查，其中22例（13.4%）在胎儿MRI上被诊断为PFA。胎儿MRI的指征包括4例（18%）巨大枕大池、2例（9.1%）菱形脑融合、13例（59.1%）小脑蚓部发育不全-丹迪-沃克变异型。2例患有神经管缺陷和腰骶部神经管缺陷的患者仍然存活。然而，最后1例在出生后死亡的患者被检测出无脑畸形。
PFA异常的诊断较为复杂，PFA的预后往往不明确。预后不受母胎因素影响，且有助于识别其他伴随异常。胎儿MRI是一种能够提供回顾性检查和研究的成像方法，尤其是在预后不良的妊娠中。
