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脊柱裂是胎儿发生的神经管畸形之一,在我国的发生率约为0.274%,其中开放性脊柱裂(OSB)占脊柱裂的80%以上。OSB主要的处理方法为尽早选择终止妊娠,以减少对孕妇的身体伤害,因此如何早期筛查OSB具有重要的临床意义[1]。目前,超声检查是OSB主要的筛查方法,但在早孕期由于脊柱骨化未完全,超声难以直接观察脊柱的形态和排列异常等直接征象。近年来有研究[2-4]报道,通过在孕11~13+6周检测胎儿的颅内透明层(IT)超声特征,可帮助诊断OSB,或通过检测胎儿的后脑结构的超声特征,也可筛查OSB。但临床上尚无统一标准,且不同方法间的鉴别效能存在差异,选择合理有效的方法对早期筛查OSB具有重要的作用。本研究回顾性分析OSB胎儿和正常胎儿的颅内特征、IT及后脑结构的超声特征,探讨其在鉴别OSB中的效能,为孕11~13+6周OSB的临床诊断提供依据。现作报道。
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健康组胎儿超声表现为间脑和中脑呈现规则的“8”字形态,IT、BS、小脑延髓池可清晰显示,产后均证实无OSB。
OSB组超声表现为脊柱裂处脊柱横切面“三角形”骨化中心失去正常形态,脑室受压、颅后窝颅内结构移位、IT部分显示受碍,且有不同程度的减小或消失。其中32例可测得ITT,22例显示模糊难以测量ITT,26例显示IT消失,间脑和中脑“8”字形态有不同程度的变形和扭曲,72例裂开处见囊性团块,内可见马尾或脊髓组织,22例和24例分别可见香蕉小脑和柠檬头,30例小脑形态及后颅窝池无明显异常。其中72例在中孕晚期、8例在孕晚期选择行引产术终止妊娠证实为OSB。典型病例见图 2。
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OSB组ITT、BS、BSOB均明显低于健康组(P < 0.01),BS/BSOB水平明显高于健康组(P < 0.01)(见表 1)。
分组 n ITT/mm BS/mm BSOB/mm BS/BSOB 健康组 80 1.74±0.21 3.01±0.33 4.41±0.47 0.72±0.07 OSB组 80 0.44±0.06 2.43±0.22 2.11±0.32 1.15±0.10 t — 53.24Δ 13.08 36.18 31.51Δ P — < 0.01 < 0.01 < 0.01 < 0.01 Δ示t′值 表 1 2组胎儿ITT、BS、BSOB和BS/BSOB比较(x±s)
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在鉴别OSB方面,ITT以 < 1.0 mm为临界值时,敏感度、特异度分别为90.00%(72/80)、87.50%(70/80),有10例误诊、8例漏诊;BS/BSOB以>1.0为临界值时,敏感度、特异度分别为87.50%(70/80)、85.00%(68/80),有12例误诊、10例漏诊;二者联合时敏感度和特异度分别为97.50%(78/80)、97.50%(78/80),有2例误诊、有2例漏诊(见表 2)。
检测方法 诊断切点 敏感度/% 特异度/% AUC (95%CI) ITT < 1.0 mm 90.00 87.50 0.734(0.672~0.786) BS/BSOB >1.0 87.50 85.00 0.721(0.667~0.773) 二者联合 ITT < 1.0 mm或BS/BSOB>1.0 97.50 97.50 0.869(0.771~0.927) 表 2 不同方法鉴别OSB的效能分析
孕11~13+6周胎儿颅内结构超声特征在诊断开放性脊柱裂中的应用
Clinical value of ultrasonic features of intracranial structures in the diagnosis of open spina bifida in fetus with 11 to 13+6 weeks of gestation
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摘要:
目的探讨孕11~13+6周胎儿颅内结构的超声特征在诊断开放性脊柱裂(OSB)中的应用。 方法选取OSB胎儿80例作为OSB组,同期选取80名健康胎儿作为健康组,所有胎儿均在11~13+6周给予超声检查颅内结构,并测量颅内透明层厚度(ITT)、脑干直径(BS)、脑干-枕骨间距离(BSOB),计算BS/BSOB比值。 结果健康组胎儿间脑及中脑形态“8”字形态及颅内透明层可清晰显示;OSB组间脑及中脑形态扭曲变形、颅后窝颅内结构移位、颅内透明层显示部分受碍且有不同程度的减小或消失。OSB组ITT、BS、BSOB均明显低于健康组,BS/BSOB明显高于健康组(P < 0.01)。ROC分析显示,在鉴别OSB方面,ITT以 < 1.0 mm为临界值时,敏感度、特异度分别为90.00%、87.50%;BS/BSOB以>1.0为临界值时,敏感度、特异度分别为87.50%、85.00%;二者联合时分别为97.50%、97.50%。 结论间脑和中脑形态扭曲变形、ITT减少或消失和BS、BSOB减少及BS/BSOB增大是OSB发生的重要颅内结构超声特征,超声观测间脑和中脑形态特征,测量ITT、BS/BSOB可帮助诊断OSB,且二者联合时具有更佳的鉴别效能,值得临床作进一步推广。 Abstract:ObjectiveTo explore the clinical value of ultrasonic features of intracranial structures in the diagnosis of open spina bifida(OSB) in fetus with 11 to 13+6 weeks of gestation. MethodsEighty healthy fetuses and 80 fetuses with OSB at 11 to 13+6 weeks of gestation were divided into the health group and OSB group, respectively.The intracranial structures in two groups were detected using ultrasound.The intracranial transparency thickness(ITT), brain stem diameter(BS), brain stem-occipital distance(BSOB) were measured, and the ratio of BS/BSOB was calculated. ResultsThe "8" shape of diencephalon to mesencephalon and ntracranial hyaline layer could be clearly displayed in health group.In OSB group, the diencephalon and mesencephalon distorted, the intracranial structures in the posterior fossa shifted, and the intracranial transparent layer partly blocked.The levels of ITT, BS and BSOB in OSB group were significantly lower than those in health group, and the BS/BSOB level in OSB group was significantly higher than that in health group(P < 0.01).In the term of OSB identification, the ITT less than 1.0 mm was set as the critical value, the results of ROC analysis showed that the sensitivity and specificity were 90.00% and 87.50%, respectively.The BS/BSOB more than 1.0 mm was set as the critical value, the sensitivity and specificity were 87.50% and 85.00%, respectively.When two indictors were considered together, the sensitivity and specificity were 97.5% and 97.5%, respectively. ConclusionsThe morphological distortion of diencephalon and mesencephalon, reduction or disappearance of ITT, reduction of BS, BSOB and BS/BSOB increasing are the important ultrasonic features of intracranial structures of OSB.Observing the orphological characteristics of diencephalon and mesencephalon, and analyzing the ITT and BS/BSOB can help diagnose OSB, and the diagnosis effect is better under combining two aspects.It is worthy of further clinical promotion. -
Key words:
- open spina bifida /
- fetus /
- ultrasound /
- intracranial transparency /
- posterior brain structure
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表 1 2组胎儿ITT、BS、BSOB和BS/BSOB比较(x±s)
分组 n ITT/mm BS/mm BSOB/mm BS/BSOB 健康组 80 1.74±0.21 3.01±0.33 4.41±0.47 0.72±0.07 OSB组 80 0.44±0.06 2.43±0.22 2.11±0.32 1.15±0.10 t — 53.24Δ 13.08 36.18 31.51Δ P — < 0.01 < 0.01 < 0.01 < 0.01 Δ示t′值 表 2 不同方法鉴别OSB的效能分析
检测方法 诊断切点 敏感度/% 特异度/% AUC (95%CI) ITT < 1.0 mm 90.00 87.50 0.734(0.672~0.786) BS/BSOB >1.0 87.50 85.00 0.721(0.667~0.773) 二者联合 ITT < 1.0 mm或BS/BSOB>1.0 97.50 97.50 0.869(0.771~0.927) -
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