双代胎盘间充质发育不良1例报告并文献复习[j]

Francisco Ruiloba Portilla, Megan Barragan Wolff, Montserrat Cuevas, Salvador Jiménez Chaidez, Yolotzin Valdespino Vázquez, Ximena Alexandra van Tienhoven
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简介:胎盘间充质发育不良(PMD)是一种罕见的胎盘异常,与高围产期死亡率相关;它主要见于女性胎儿,很少有病例报道。在评估臼齿病变(如完全葡萄胎、部分葡萄胎和非葡萄胎)时,妊娠早期和中期产物的评估是最重要的。方法:我们报告了一个单绒毛膜46XX,69XXY妊娠胎盘间质发育不良(PMD),可能的雄激素性双亲本嵌合病因(Instituto Nacional de Perinatología Isidro Espinosa de los Reyes批准号P-270-18)。结果:患者28岁,妊娠2期,女,1期,既往无明显病史。5年前,她有过一次妊娠,在妊娠39周时进行了一次简单的腹部分娩。由于USG数据与可能的肝肿瘤、膜外室间隔缺损和可能的PMD一致,该患者在妊娠24.2周时因磨牙成分转移到我们的健康中心。妊娠24.3周超声显示单次宫内妊娠,1 / 3胎盘正常,2 / 3出现不规则囊性团块,其余1 / 3出现较大囊肿。根据大体、组织学和遗传成分的资料回顾性诊断胎盘间充质发育不良。结论:据我们所知,这是首例核型为46XX、69XXY的PMD病例。由于缺乏足够的数据和报告,需要对PMD病例采取激进和谨慎的方法。
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A Rare Case of Biparental Placental Mesenchymal Dysplasia: A Case Report and Literature Review [ID: 1336615]
INTRODUCTION: Placental mesenchymal dysplasia (PMD) is a rare placental anomaly associated with high perinatal mortality; it is predominantly seen in female fetuses and very few cases have been reported. The evaluation of first- and second-trimester products of conception is of the utmost importance when assessing molar pathologies such as complete hydatidiform moles, partial hydatidiform moles, and nonmolar samples. METHODS: We report a monochorionic 46XX,69XXY pregnancy with placental mesenchymal dysplasia (PMD) with possible androgenetic biparental mosaicism etiology (Instituto Nacional de Perinatología Isidro Espinosa de los Reyes approval number P-270-18). RESULTS: The patient is a 28-year-old gravida 2, para 1, female with no notable past medical history. She had a previous pregnancy resulting in an uncomplicated abdominal delivery at 39 weeks of gestation 5 years prior. The patient was transferred to our health center at 24.2 weeks of gestation with a molar component because of USG data consistent with a probable hepatic tumor, perimembranous ventricular septal defect, and probable PMD. Ultrasound at 24.3 weeks of gestation demonstrated a single intrauterine pregnancy with one-third of the placenta appearing normal, the second third showing irregular cystic masses, and the remaining third with larger cysts. Placental mesenchymal dysplasia was diagnosed retrospectively based on data from the gross, histologic, and genetic components. CONCLUSION: To our knowledge, this is the first reported case of PMD with a 46XX,69XXY karyotype. A radical and cautious approach to PMD cases is needed because of the lack of sufficient data and reports.
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