Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, United States.
Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, United States.
Cereb Cortex. 2023 Oct 14;33(21):10793-10801. doi: 10.1093/cercor/bhad323.
Non-syndromic, isolated musculoskeletal birth defects (niMSBDs) are among the leading causes of pediatric hospitalization. However, little is known about brain development in niMSBDs. Our study aimed to characterize prenatal brain development in fetuses with niMSBDs and identify altered brain regions compared to controls. We retrospectively analyzed in vivo structural T2-weighted MRIs of 99 fetuses (48 controls and 51 niMSBDs cases). For each group (19-31 and >31 gestational weeks (GW)), we conducted repeated-measures regression analysis with relative regional volume (% brain hemisphere) as a dependent variable (adjusted for age, side, and interactions). Between 19 and 31GW, fetuses with niMSBDs had a significantly (P < 0.001) smaller relative volume of the intermediate zone (-22.9 ± 3.2%) and cerebellum (-16.1 ± 3.5%,) and a larger relative volume of proliferative zones (38.3 ± 7.2%), the ganglionic eminence (34.8 ± 7.3%), and the ventricles (35.8 ± 8.0%). Between 32 and 37 GW, compared to the controls, niMSBDs showed significantly smaller volumes of central regions (-9.1 ± 2.1%) and larger volumes of the cortical plate. Our results suggest there is altered brain development in fetuses with niMSBDs compared to controls (13.1 ± 4.2%). Further basic and translational neuroscience research is needed to better visualize these differences and to characterize the altered development in fetuses with specific niMSBDs.
非综合征性孤立性肌肉骨骼出生缺陷（niMSBDs）是导致儿科住院的主要原因之一。然而，对于 niMSBDs 中的脑发育知之甚少。我们的研究旨在描述 niMSBDs 胎儿的产前脑发育情况，并确定与对照组相比大脑区域的变化。我们回顾性分析了 99 例胎儿（48 例对照组和 51 例 niMSBDs 病例）的体内结构 T2 加权 MRI。对于每组（19-31 周和>31 周妊娠周数（GW）），我们使用相对区域体积（%大脑半球）作为因变量（调整年龄、侧别和交互作用）进行重复测量回归分析。在 19-31GW 期间，niMSBDs 胎儿中间带（-22.9±3.2%）和小脑（-16.1±3.5%）的相对体积明显较小（P<0.001），而增殖带（38.3±7.2%）、神经节隆起（34.8±7.3%）和脑室（35.8±8.0%）的相对体积明显较大。在 32-37GW 期间，与对照组相比，niMSBDs 胎儿的中央区域（-9.1±2.1%）体积明显较小，而皮质板体积明显较大。与对照组相比，niMSBDs 胎儿的脑发育存在差异（13.1±4.2%）。需要进一步的基础和转化神经科学研究来更好地可视化这些差异，并描述特定 niMSBDs 胎儿的发育异常。
