From the Department of Paediatric Radiology (A.-E.M., D.G., P.S., V.D., N.B.), Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants Malades, Université de Paris, Paris France
Institut Imagine (A.-E.M., D.G., P.S., N.B.-B., I.D., V.D., N.B.), Institut National de la Santé et de la Recherche Médicale U1163, Université de Paris, Paris, France.
AJNR Am J Neuroradiol. 2022 Jan;43(1):132-138. doi: 10.3174/ajnr.A7383. Epub 2021 Dec 23.
Prognosis of isolated short corpus callosum is challenging. Our aim was to assess whether fetal DTI tractography can distinguish callosal dysplasia from variants of normal callosal development in fetuses with an isolated short corpus callosum.
This was a retrospective study of 37 cases referred for fetal DTI at 30.4 weeks (range, 25-34 weeks) because of an isolated short corpus callosum less than the 5th percentile by sonography at 26 weeks (range, 22-31 weeks). Tractography quality, the presence of Probst bundles, dysmorphic frontal horns, callosal length (internal cranial occipitofrontal dimension/length of the corpus callosum ratio), and callosal thickness were assessed. Cytogenetic data and neurodevelopmental follow-up were systematically reviewed.
Thirty-three of 37 fetal DTIs distinguished the 2 groups: those with Probst bundles (Probst bundles+) in 13/33 cases (40%) and without Probst bundles (Probst bundles-) in 20/33 cases (60%). Internal cranial occipitofrontal dimension/length of the corpus callosum was significantly higher in Probst bundles+ than in Probst bundles-, with a threshold value determined at 3.75 for a sensitivity of 92% (95% CI, 77%-100%) and specificity of 85% (95% CI, 63%-100%). Callosal lipomas (4/4) were all in the Probst bundles- group. More genetic anomalies were found in the Probst bundles+ than in Probst bundles- group (23% versus 10%, = .08).
Fetal DTI, combined with anatomic, cytogenetic, and clinical characteristics could suggest the possibility of classifying an isolated short corpus callosum as callosal dysplasia and a variant of normal callosal development.
孤立性短胼胝体的预后具有挑战性。我们的目的是评估胎儿 DTI 束追踪是否可以区分胼胝体发育不良与 26 周超声检查发现的胼胝体小于第 5 百分位数的孤立性短胼胝体的正常胼胝体发育变异。
这是一项回顾性研究,共纳入 37 例因孤立性短胼胝体(22-31 周时 26 周超声检查发现的胼胝体小于第 5 百分位数)于 30.4 孕周(范围 25-34 周)接受胎儿 DTI 检查的病例。评估了束追踪质量、Probst 束的存在、变形的额角、胼胝体长度(颅内枕额径/胼胝体长度的比值)和胼胝体厚度。系统回顾了细胞遗传学数据和神经发育随访结果。
37 例胎儿 DTI 中有 33 例可以区分这两组:13 例(40%)有 Probst 束(Probst 束+),20 例(60%)无 Probst 束(Probst 束-)。Probst 束+的颅内枕额径/胼胝体长度明显高于 Probst 束-,其阈值为 3.75,敏感性为 92%(95%CI,77%-100%),特异性为 85%(95%CI,63%-100%)。4 例(4/4)胼胝体脂肪瘤均位于 Probst 束-组。Probst 束+组的遗传异常发生率高于 Probst 束-组(23%比 10%,=0.08)。
胎儿 DTI 结合解剖学、细胞遗传学和临床特征,有助于对孤立性短胼胝体进行分类,提示胼胝体发育不良和正常胼胝体发育变异的可能性。