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通过新的大脑外侧裂生物测量参考图表诊断胎儿皮质异常。

Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

机构信息

Department of Obstetrics and Gynecology, Bnai-Zion Medical Center, Haifa, Israel.

Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

出版信息

Prenat Diagn. 2023 Jul;43(8):1066-1078. doi: 10.1002/pd.6359. Epub 2023 May 15.

DOI:10.1002/pd.6359
Abstract

OBJECTIVE

To develop novel fetal reference ranges for the characterization of the normal appearance of the Sylvian fissures (SF) along gestation and to apply them to fetuses with cortical abnormalities affecting the SF.

METHODS

In this cross-sectional study, we used three-dimensional sonographic multiplanar reformatting (3D-MPR) to examine the fetal SF. Normal development was assessed in the second and third trimesters. SF parameters were evaluated in predefined axial and coronal planes: insular height and length, SF depth, and the extent of the coverage of the insula by the frontal and temporal lobes. Intra-observer variability and inter-rater reliability for the studied parameters were evaluated. The new reference charts were applied to 19 fetuses with cortical abnormalities involving the SF who had appropriate sonographic volumes for 3D-MPR analysis. Their diagnoses were confirmed by autopsy, fetal or postnatal MRI, genetic findings related to cortical malformations, or an abnormal cortical imaging pattern with similar MRI findings in an affected sibling. We applied the two previously published references for the evaluation of fetal SF development to these cases and compared the ability of the references to correctly detect SF abnormalities.

RESULTS

The study included 189 fetuses of low-risk singleton pregnancies between 24 and 34 gestational weeks. The insular length or height increased with gestational age in the axial and coronal planes with adjusted R  = 0.621, p < 0.0001 and R  = 0.384, p < 0.0001, respectively. The SF depth also increased with gestational age in the axial and coronal planes with adjusted R  = 0.695, p < 0.0001 and R  = 0.219, p = 0.008, respectively. The extent of the coverage of the insula by the frontal and temporal lobes in the coronal plane increased with gestational age (adjusted R  = 0.627, p < 0.0001 and R  = 0.589, p < 0.0001, respectively). The interclass correlation coefficients of the intra- and inter-rater reliability of the studied parameters ranged between 0.71 and 0.97. The cortical anomalies in the 19 fetuses were polymicrogyria (7), simplified gyral pattern (3), dysgyria (3), lissencephaly (2), cortical malformation related to tubulinopathy (1), brain atrophy (1), cortical dysplasia (1), and cobblestone malformation (1). Three of the fetuses had multiple cortical anomalies. In 17 of 19 (89%) cases, at least one of our 6 SF parameters was found to be out of the normal range. In the coronal plane, SF height and depth were measured below 2SD in 9 (47%) and 4 (21%) cases, respectively. In the axial plane, SF length and depth were out of the normal ranges in six (31.5%) and four (21%), correspondingly. In the coronal plane, the opercular coverage by the frontal and temporal lobes was below 2 SD in 10 (52%) and 11 (57%), respectively. The scoring of the SF operculization by Quarello et al. was abnormal in 8 cases (42%). The measurement of the SF angle according to Poon et al. was abnormal in 14 cases (74%).

CONCLUSIONS

The fetal SF is a complex developing structure that can be reliably characterized by sonographic parameters. One abnormal parameter is sufficient to raise the suspicion of SF malformation. Our new SF parameters might facilitate the detection of prenatal cortical abnormalities affecting the SF.

摘要

目的

为了描述大脑外侧裂(SF)在妊娠期间的正常外观,并应用于受影响 SF 的皮质异常的胎儿,开发新的胎儿参考范围。

方法

在这项横断面研究中,我们使用三维超声多平面重建成像(3D-MPR)来检查胎儿的 SF。在第二和第三个三个月评估正常发育。在预定的轴向和冠状平面评估 SF 参数:岛叶高度和长度、SF 深度以及额叶和颞叶覆盖岛叶的程度。评估了研究参数的观察者内变异性和观察者间可靠性。将新的参考图表应用于 19 名涉及 SF 的皮质异常的胎儿,这些胎儿具有适当的 3D-MPR 分析超声容积。他们的诊断通过尸检、胎儿或产后 MRI、与皮质畸形相关的遗传发现,或受影响的兄弟姐妹中具有类似 MRI 发现的异常皮质成像模式得到证实。我们将以前发表的两种用于评估胎儿 SF 发育的参考资料应用于这些病例,并比较了这些参考资料正确检测 SF 异常的能力。

结果

该研究纳入了 189 名低风险单胎妊娠孕妇,妊娠 24 至 34 周。轴向和冠状平面上的岛叶长度或高度随着妊娠年龄的增加而增加,调整后的 R 值分别为 0.621(p<0.0001)和 0.384(p<0.0001)。SF 深度也随着妊娠年龄的增加而增加,调整后的 R 值分别为 0.695(p<0.0001)和 0.219(p=0.008)。冠状平面上的额叶和颞叶覆盖岛叶的程度随着妊娠年龄的增加而增加(调整后的 R 值分别为 0.627(p<0.0001)和 0.589(p<0.0001))。研究参数的观察者内和观察者间可靠性的组内相关系数范围在 0.71 至 0.97 之间。19 名胎儿的皮质异常为多微脑回(7)、简化脑回模式(3)、发育性脑回异常(3)、无脑回(2)、与微管蛋白病相关的皮质畸形(1)、脑萎缩(1)、皮质发育不良(1)和鹅卵石样畸形(1)。其中 3 名胎儿有多发性皮质异常。在 19 例(89%)病例中,至少有 1 项我们的 6 项 SF 参数超出了正常范围。在冠状平面上,SF 高度和深度分别在 9 例(47%)和 4 例(21%)低于 2SD。在轴向平面上,SF 长度和深度分别在 6 例(31.5%)和 4 例(21%)病例中超出正常范围。在冠状平面上,SF 由额、颞叶覆盖的瓣叶在 10 例(52%)和 11 例(57%)中低于 2SD。Quarello 等评分的 SF 瓣叶发育不全在 8 例(42%)中异常。根据 Poon 等测量的 SF 角异常在 14 例(74%)中。

结论

胎儿 SF 是一个复杂的发育结构,可以通过超声参数可靠地描述。一个异常参数足以引起对 SF 畸形的怀疑。我们新的 SF 参数可能有助于检测受影响 SF 的皮质异常。

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