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[非常高母体血清阿尔法胎蛋白的差异诊断 - 一个案例报告]

Hadas Allouche Kam¹, Dov Popper², Elias Castel³

¹Departments of Obstetrics and Gynecology, Hadassah Medical Organization, Jerusalem, Israel, Faculty of Medicine, Hebrew University of Jerusalem, Israel.

|July 2, 2023

概括

在怀孕期间极高的母体血清α胎儿蛋白 (MSAFP) 与胎盘问题有关,而不是胎儿疾病. 在排除其他条件后,异常的胎儿 - 母胎分流和胎盘形被确定为可能的原因.

科学领域:

产科和妇科产科和妇科
医学遗传学医学遗传学
生物化学生物化学

背景情况:

一名34岁的妇女在怀孕第二季度出现了极高的母体血清α胎儿蛋白 (MSAFP) 水平 (58 MoM).
之前的无意外怀孕和健康的孩子被记录下来,其中3个是通过剖腹产产生的.
在异常扫描过程中确定了胎盘形,促使进一步调查.

研究的目的:

在孕妇患者中调查极高MSAFP的病因.
要区分胎儿,母亲和胎盘来源的高MSAFP.
审查有关高MSAFP差异诊断的文献.

主要方法:

对MSAFP水平进行生物化学测试.
产前异常扫描和超声波.
羊水阿尔法胎蛋白 (AFP) 水平分析.
全身核磁共振扫描以排除子宫外AFP分泌.
对胎儿部分进行无细胞DNA (cfDNA) 分析.

主要成果:

神经管和腹壁缺陷被排除在外.
正常的胎液AFP水平排除了胎儿疾病作为原因.
全身MRI排除了占用空间的病变作为宫外AFP的来源.
极高的MSAFP被归因于胎盘病理,可能是异常的胎儿 - 母亲分流.
在cfDNA中相对较高的胎儿分数 (18%) 支持了分流假说.

结论:

在这种情况下,极高的MSAFP与胎盘病理 (胎盘) 和可能异常的胎儿与母亲的分流有关.
胎儿和母亲因素被排除在MSAFP升高的主要原因之外.
这些发现凸显了在不明原因高MSAFP的情况下考虑胎盘异常的重要性.

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