13q12.11缺失及孕25周女婴胎盘间充质发育异常的胎盘病理学

Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant.

作者信息

Johnson Sheryl L, Walters-Sen Lauren C, Stanek Jerzy W

机构信息

Division of Pathology, Cincinnati Children's Hospital, Cincinnati, USA.

Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, USA.

出版信息

Am J Case Rep. 2018 Mar 29;19:369-373. doi: 10.12659/AJCR.907329.

DOI:10.12659/AJCR.907329

PMID:29593209

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5890614/

Abstract

UNLABELLED

['Patient: —', 'Final Diagnosis: Placental mesenchymal dysplasia', 'Symptoms: Premature rupture of membranes', 'Medication:—', 'Clinical Procedure: Amniocentesis', 'Specialty: Obstetrics and Gynecology']

OBJECTIVE

: Congenital defects/diseases

BACKGROUND

: Placental mesenchymal dysplasia (PMD) is a rare placental lesion that is associated with high perinatal morbidity and mortality. Grossly, PMD is characterized by placentomegaly with thick and tortuous chorionic vessels and abnormal branching over the chorionic plate. Histologically, enlarged edematous stem villi with dysplastic vessels and cistern formation are seen among normal intermediate and terminal villi. PMD has been previously associated with Beckwith-Wiedemann syndrome, paternal uniparental disomy 6, trisomies, Klinefelter syndrome, and androgenetic-biparental whole-gene mosaicism.

CASE REPORT

: We report a case of PMD in the setting of severe fetal growth restriction (FGR) (birth weight, 380 gm), with delivery at 25 weeks 1-day gestation. There was no maternal history of hypertension. The 25-week and 1-day gestation newborn infant died 20 minutes after delivery. Fetal cells obtained at amniocentesis had a 228kb deletion at 13q12.11 involving the gap junction beta-6 () gene detected by single nucleotide polymorphism (SNP) microarray analysis. This finding was not previously reported in the setting of PMD. The histological findings of the placenta also showed some unique features that may have been associated with the specific molecular alteration that included inconspicuous cistern formation, stem villi and cell island complexes, features of shallow implantation, and a uterine pattern of chronic hypoxic placental injury.

CONCLUSIONS

: A case of PMD in a 28-year-old woman with a female infant born at 25 weeks and 1-day gestation was associated with a 13q12.11 deletion in the gene and abnormal placental histological features.

摘要

未标注

['患者：—', '最终诊断：胎盘间充质发育异常', '症状：胎膜早破', '用药：—', '临床操作：羊膜穿刺术', '专业：妇产科']

目的

先天性缺陷/疾病

背景

胎盘间充质发育异常（PMD）是一种罕见的胎盘病变，与围产期高发病率和死亡率相关。大体上，PMD的特征是胎盘肿大，伴有粗大且迂曲的绒毛膜血管以及绒毛膜板上的异常分支。组织学上，在正常的中间和终末绒毛中可见肿大、水肿的干绒毛伴有发育异常的血管和池形成。PMD先前已与贝克威思-维德曼综合征、父源单亲二体6、三体、克兰费尔特综合征以及雄激素-双亲全基因嵌合体相关。

病例报告

我们报告一例在严重胎儿生长受限（FGR）（出生体重380克）情况下发生的PMD病例，妊娠25周1天分娩。母亲无高血压病史。妊娠25周1天的新生儿在出生后20分钟死亡。羊膜穿刺术获取的胎儿细胞经单核苷酸多态性（SNP）微阵列分析检测到13q12.11处有一个228kb的缺失，涉及缝隙连接β-6（）基因。这一发现先前在PMD病例中未见报道。胎盘的组织学发现也显示出一些独特特征，可能与特定的分子改变相关，包括不明显的池形成、干绒毛和细胞岛复合体、浅着床特征以及慢性缺氧性胎盘损伤的子宫模式。