Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom; Department of Statistics, Faculty of Arts and Sciences, Middle East Technical University, Ankara, Turkey; Department of Obstetrics and Gynecology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom.
Am J Obstet Gynecol. 2021 Mar;224(3):294.e1-294.e14. doi: 10.1016/j.ajog.2020.08.058. Epub 2020 Aug 22.
Open spina bifida is a major congenital anomaly with an estimated incidence of <1 in 1000. The diagnosis of open spina bifida is usually made during the second trimester, but first-trimester detection rate of spina bifida is increasingly reported. Recently, the mean choroid plexus length to occipitofrontal diameter ratio was reported to be increased in fetuses with open spina bifida. The ratio reflects the so-called dry brain effect caused by cerebrospinal fluid leakage and expansion of the choroid plexus into the lateral ventricles. The mean choroid plexus length to occipitofrontal diameter ratio appears to be a promising tool for early detection of open spina bifida, but its diagnostic accuracy is yet to be determined in a large cohort.
This study aimed to assess the predictive accuracy of mean choroid plexus length to occipitofrontal diameter ratio recorded at 11 to 13 weeks' gestation for the detection of open spina bifida.
This was a retrospective cohort of patients treated in a tertiary referral center. Fetuses in which open spina bifida was detected at 16 to 24 weeks' gestation and normal fetuses were included in the cohort. Biparietal diameter and occipitofrontal diameter were measured in an axial view. The length of choroid plexus was measured along its longest diameter in the same plane. Ultrasound images were examined offline, and the operator was blinded to the clinical diagnosis. The predictive accuracy was evaluated using the area under the curve and positive and negative predictive values.
We included 3300 pregnant women, of whom 24 (0.73%) had the fetuses affected by open spina bifida. The area under the curve values were 0.921 for mean choroid plexus length to occipitofrontal diameter ratio and 0.933 for its multiple of the median. Mean choroid plexus length to biparietal diameter ratio indicated similar results, with area under the curve values of 0.928 and 0.931 for raw ratio and multiple of the median ratio models, respectively. The optimal cutoffs of the mean choroid plexus to occipitofrontal diameter ratio and multiple of the median ratios were 0.662 and 1.263, respectively. The optimal mean choroid plexus to occipitofrontal diameter ratio and multiple of the median ratio cutoffs provided a positive predictive value of 90.9% and a negative predictive value of 99.6%. The number of affected spinal segments was significantly higher in fetuses with a ratio above 0.662 (P=.022).
The mean choroid plexus length to occipitofrontal diameter ratio at 11 to 13 weeks' gestation is a promising tool for the prenatal detection of open spina bifida.
开放性脊柱裂是一种主要的先天性畸形，其估计发病率为<1/1000。开放性脊柱裂的诊断通常在妊娠中期进行，但越来越多的报道显示在妊娠早期就能检测到脊柱裂。最近，有研究报道，开放性脊柱裂胎儿的脉络丛长度与枕额径的比值增加。该比值反映了脑脊液漏出和脉络丛扩张到侧脑室引起的所谓的“干脑”效应。脉络丛长度与枕额径的比值似乎是一种很有前途的早期检测开放性脊柱裂的工具，但它的诊断准确性还需要在大样本中确定。
本研究旨在评估 11 至 13 周妊娠时脉络丛长度与枕额径的比值对开放性脊柱裂的检测预测准确性。
这是一项在三级转诊中心进行的回顾性队列研究。将在 16 至 24 周妊娠时发现开放性脊柱裂的胎儿和正常胎儿纳入队列。在轴位测量双顶径和枕额径。在同一平面上沿脉络丛最长直径测量其长度。离线检查超声图像，操作者对临床诊断不知情。使用曲线下面积和阳性及阴性预测值评估预测准确性。
我们纳入了 3300 名孕妇，其中 24 名（0.73%）胎儿患有开放性脊柱裂。脉络丛长度与枕额径比值的曲线下面积值为 0.921，中位数倍数为 0.933。脉络丛长度与双顶径比值也得到了类似的结果，原始比值和中位数倍数模型的曲线下面积值分别为 0.928 和 0.931。脉络丛长度与枕额径比值的最佳截断值为 0.662，中位数倍数比值的最佳截断值为 1.263。最佳的脉络丛长度与枕额径比值和中位数倍数比值截断值提供了 90.9%的阳性预测值和 99.6%的阴性预测值。比值大于 0.662 的胎儿的受累脊柱节段数明显更高（P=.022）。
11 至 13 周妊娠时的脉络丛长度与枕额径的比值是一种很有前途的产前检测开放性脊柱裂的工具。
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