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胎盘形态学、细胞遗传学和组织学检查结果在胎儿表型建模中的潜在作用:一例存在未解决问题的病例报告

The Potential Role of Placenta Morphological, Cytogenetic and Histological Findings in Fetal Phenotype Modeling: A Case Report with Unanswered Questions.

作者信息

Strautmane Estere, Korņejeva Liene, Ločmele Dzintra, Piksena Marta, Bokučava Diāna, Vedmedovska Natālija

机构信息

Rīga Stradiņš University, Faculty of Residency in Obstetrics and Gynecology, Riga, Latvia.

Riga Maternity Hospital, Riga, Latvia.

出版信息

Acta Med Litu. 2025;32(1):240-248. doi: 10.15388/Amed.2025.32.1.8. Epub 2025 Feb 18.

DOI:10.15388/Amed.2025.32.1.8
PMID:40641533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12239179/
Abstract

Placental abnormalities significantly contribute to fetal mortality. Maternal vascular underperfusion emerges as the prevailing diagnosis. At the same time, genomic alterations within the placenta might play a role in the development of placental dysfunction. We present a case report of a 24-year-old primigravida with an uneventful medical history, admitted at 21 weeks and 2 days gestation. Despite a low risk for typical trisomies, a high risk for preeclampsia and fetal growth restriction (FGR) was recognized in the first trimester. Anhydramnios, abnormal placental morphology, retrochorial and retromembranous hematomas were observed, prompting the termination of pregnancy (TOP). Histological examination revealed multiple placental abnormalities, while the fetus displayed normal anatomy and phenotype. Discussion encompasses the varied manifestations of histopathological findings, and potential associations with adverse pregnancy outcomes. Our case underscores the importance of meticulous evaluation and multidisciplinary collaboration in managing pregnancies with placental anomalies. Further research is crucial to discern the intricate relationship between placental cytogenetics, morphology, and pregnancy outcomes, thus facilitating better clinical management and counseling strategies.

摘要

胎盘异常是导致胎儿死亡的重要因素。母体血管灌注不足成为主要诊断结果。与此同时,胎盘内的基因改变可能在胎盘功能障碍的发生发展中起作用。我们报告一例24岁初产妇病例,其既往病史无异常,妊娠21周零2天时入院。尽管典型三体综合征风险较低,但在孕早期就发现其患先兆子痫和胎儿生长受限(FGR)的风险较高。观察到羊水过少、胎盘形态异常、绒毛膜下和胎膜后血肿,遂终止妊娠(TOP)。组织学检查发现多种胎盘异常,而胎儿解剖结构和表型正常。讨论内容包括组织病理学发现的各种表现以及与不良妊娠结局的潜在关联。我们的病例强调了在处理胎盘异常妊娠时进行细致评估和多学科协作的重要性。进一步的研究对于明确胎盘细胞遗传学、形态学与妊娠结局之间的复杂关系至关重要,从而有助于制定更好的临床管理和咨询策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/2c630f3579d8/amed-32-240-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/a9c7805adcfb/amed-32-240-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/6dd3db015494/amed-32-240-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/0f1d979240d5/amed-32-240-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/2c630f3579d8/amed-32-240-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/a9c7805adcfb/amed-32-240-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/a8fd2bc712bf/amed-32-240-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/6dd3db015494/amed-32-240-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/0f1d979240d5/amed-32-240-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/530d/12239179/2c630f3579d8/amed-32-240-g005.jpg

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本文引用的文献

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ISUOG Practice Guidelines (updated): performance of 11-14-week ultrasound scan.国际妇产科超声学会(ISUOG)实践指南(更新版):孕11 - 14周超声检查的实施
Ultrasound Obstet Gynecol. 2023 Jan;61(1):127-143. doi: 10.1002/uog.26106.
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ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan.
国际妇产科超声学会(ISUOG)实践指南(更新版):孕中期常规胎儿超声检查的实施
Ultrasound Obstet Gynecol. 2022 Jun;59(6):840-856. doi: 10.1002/uog.24888. Epub 2022 May 20.
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Doppler evaluation of normal and abnormal placenta.多普勒评估正常和异常胎盘。
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Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.局限性胎盘嵌合体妊娠的结局及其对游离胎儿 DNA 产前筛查的影响。
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Placenta. 2019 Oct;86:45-51. doi: 10.1016/j.placenta.2019.07.006. Epub 2019 Jul 12.
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