[产妇血清甲胎蛋白异常高的鉴别诊断- 1例报告]。

Harefuah Pub Date : 2023-06-01
Hadas Allouche Kam, Dov Popper, Elias Castel, Simcha Yagel, Hagit Daum
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摘要

简介:一名34岁的女性,由于在妊娠中期生化检查中母体血清α -胎蛋白(MSAFP)高达58 MoM (541 IU/mL, 654 ng/mL)而被转介遗传咨询。这对夫妇有五个健康的孩子,其中三个是通过剖宫产分娩的。目前妊娠随访顺利,除了在异常扫描中发现胎盘。检查还排除了神经管或腹壁缺损。羊水中甲胎蛋白水平正常,故排除胎儿疾病为病因。全身MRI排除了占位性病变作为AFP异位分泌的来源。在排除了这一极高MSAFP的其他不祥病因后,它与胎盘病理有关,可能与异常的胎母分流有关。胎儿游离DNA的比例为18%,被认为相对较高,暗示可能存在分流。我们回顾了关于高MSAFP鉴别诊断的文献,包括胎儿、母体和胎盘来源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[THE DIFFERENTIAL DIAGNOSIS OF EXTREMELY HIGH MATERNAL SERUM ALPHA FETOPROTEIN - A CASE REPORT].

Introduction: A 34 years-old woman was referred to genetic counseling due to extremely high maternal serum alpha fetoprotein (MSAFP) of 58 MoM (541 IU/mL, 654 ng/mL) in the second trimester biochemical test. The couple has five healthy children, three of them were delivered by cesarean section. Current pregnancy follow-up was uneventful except for the demonstration of placenta percreta during anomaly scan. The test also ruled out neural tube or abdominal wall defect. AFP levels in amniotic fluid were normal thus fetal disease was ruled out as the etiology. Total body MRI ruled out space occupying lesion as a source of ectopic secretion of AFP. After exclusion of other ominous etiologies for this extremely high MSAFP, it was related to the placental pathology and probably to abnormal feto-maternal shunts. Fetal fraction in cell free DNA was 18%, considered relatively high, a hint for those speculated shunts. We reviewed the literature regarding the differential diagnosis of high MSAFP including fetal, maternal and placental sources.

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