Ontario Fetal Centre, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Department of Diagnostic Imaging, Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.
Ultrasound Obstet Gynecol. 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018.
Septo-optic dysplasia (SOD) is a clinical syndrome characterized by varying combinations of optic nerve hypoplasia, pituitary gland hypoplasia and abnormal cavum septi pellucidi. It is suspected on prenatal imaging when there is non-visualization or hypoplasia of the septal leaflets. Long-term postnatal outcomes of fetuses with prenatally suspected SOD have been documented poorly. The aims of this study were to describe the natural history of deficient septal leaflets, to quantify the incidence of postnatally confirmed SOD and to document the visual, endocrine and long-term neurodevelopmental outcomes of these infants.
This was an observational retrospective study of all fetuses with prenatal imaging showing isolated septal agenesis, assessed at a single tertiary center over an 11-year period. Pregnancy, delivery and neonatal outcomes and pre- and postnatal imaging findings were reviewed. Neonatal evaluations or fetal autopsy reports were assessed for confirmation of SOD. Ophthalmologic, endocrine, genetic and long-term developmental evaluations were assessed. Imaging findings and outcome were compared between infants with and those without postnatally confirmed SOD.
Of 214 fetuses presenting with septal absence on prenatal ultrasound and magnetic resonance imaging (MRI), 18 (8.4%) were classified as having suspected isolated septal agenesis suspicious for SOD. Uniform prenatal MRI findings in cases with suspected SOD included remnants of the leaflets of the cavum septi pellucidi, fused forniceal columns, normal olfactory bulbs and tracts and a normal optic chiasm. Twelve fetuses were liveborn and five (27.8%) had postnatally confirmed SOD. Only two of these five fetuses had additional prenatal imaging features (pituitary cyst, microphthalmia and optic nerve hypoplasia) supporting a diagnosis of SOD. The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from cases without confirmed SOD. Visual and endocrine impairments were present in two (40%) and four (80%) cases with confirmed SOD, respectively. In those with visual and/or endocrine impairment, developmental delay (median age at follow-up, 2.5 (interquartile range, 2.5-7.0) years) was common (80%) and mostly severe. Neonates with isolated septal agenesis and a lack of visual or endocrine abnormalities to confirm SOD had normal development.
Only a quarter of fetuses with isolated septal agenesis suggestive of SOD will have postnatal confirmation of the diagnosis. Clinical manifestations of SOD are variable, but neurodevelopmental delay may be more prevalent than thought formerly. © 2020 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
视-隔发育不良（SOD）是一种临床综合征，其特征为视神经发育不全、垂体发育不全和异常透明隔腔的不同组合。当隔叶不能被可视化或发育不全时，产前影像学怀疑存在 SOD。胎儿产前怀疑 SOD 的长期产后结局记录不佳。本研究的目的是描述隔叶发育不全的自然病史，量化产后确诊 SOD 的发生率，并记录这些婴儿的视觉、内分泌和长期神经发育结局。
这是一项对在一家三级中心进行的 11 年期间接受产前影像学检查显示孤立性隔缺失的所有胎儿进行的观察性回顾性研究。回顾了妊娠、分娩和新生儿结局以及产前和产后影像学发现。评估新生儿评估或胎儿尸检报告以确认 SOD。评估眼科、内分泌、遗传和长期发育评估。比较了产后确诊 SOD 婴儿和未确诊 SOD 婴儿的影像学发现和结局。
在 214 例产前超声和磁共振成像（MRI）显示隔缺失的胎儿中，18 例（8.4%）被归类为疑似孤立性隔发育不全，疑似 SOD。疑似 SOD 病例的一致产前 MRI 发现包括透明隔腔的叶状残余物、融合的穹窿柱、正常嗅球和束以及正常的视交叉。12 例胎儿为活产，其中 5 例（27.8%）产后确诊 SOD。这 5 例中有 2 例仅具有其他产前影像学特征（垂体囊肿、小眼球和视神经发育不全）支持 SOD 的诊断。另外 3 例确诊 SOD 病例没有可靠区分它们与未确诊 SOD 病例的产前或产后影像学发现。在确诊 SOD 的 2 例（40%）和 4 例（80%）中分别存在视觉和内分泌损伤。在有视觉和/或内分泌障碍的病例中，发育迟缓（中位随访年龄，2.5（四分位间距，2.5-7.0）岁）很常见（80%），且大多严重。孤立性隔缺失且无视觉或内分泌异常以确认 SOD 的新生儿发育正常。
仅有四分之一疑似 SOD 的孤立性隔发育不全胎儿会有产后确诊。SOD 的临床表现多种多样，但神经发育迟缓可能比以前认为的更为普遍。 © 2020 作者。超声在妇产科由约翰威立父子公司出版代表国际妇产科超声学会。
