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

Abstract

Patient: —Final Diagnosis: Placental mesenchymal dysplasiaSymptoms: Premature rupture of membranesMedication:—Clinical Procedure: AmniocentesisSpecialty: Obstetrics and GynecologyObjective:Congenital defects/diseasesBackground: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 (GJB6) 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 GJB6 gene and abnormal placental histological features.

Patterns of Placental Injury in Congenital Anomalies in Second Half of Pregnancy

“…[16][17][18] Rarely, unusual placental features can be seen in isolated cases of genetic fetal anomalies and suggest chromosomal anomalies. 9,19,20 In our large unselected population of placentas from the second half of high-risk pregnancy which included also some cases analyzed here, fetal congenital anomalies grouped with oligohydramnios, amnion nodosum, nonmacerated stillbirth, termination of pregnancy, villous hemosiderosis, hydropic placenta, and hypocoiled umbilical cord. 21 In the second trimester, fetal malformations clustered with termination of pregnancy only, in the preterm third trimester, with neonatal mortality, villous hemosiderosis, single umbilical artery, polyhydramnios, and hydropic placenta, while in term pregnancy, with single umbilical artery and nonmacerated stillbirth.…”

“…16–18 Rarely, unusual placental features can be seen in isolated cases of genetic fetal anomalies and suggest chromosomal anomalies. 9,19,20…”

Placental Mesenchymal Dysplasia; Current Understanding of the Sonographic, Histologic, and Molecular Findings of a Rare and Challengin Disorder

“…There has been only a single reported case of triploidy associated with PMD [36]. Other chromosomally abnormal cases reported included trisomy 13 (47,XX,t(1:13)(q32;q32)+ 13) [37], and a 228kb deletion at 13q12.11 involving the gap junction beta-6 (GJB6) gene detected by single nucleotide polymorphism (SNP) microarray analysis has been reported [38]. In a review study by Cohen MC et al [36] Klinefelter syndrome (47,XXY) has been diagnosed with PMB.…”

Placental mesenchymal dysplasia

“…Описаны также разнообразные аномалии кариотипа, представленные, как правило, в виде единичных наблюдений (мозаицизм по трисомии 9, трисомия 13, синдром Клайнфелтера, диандрическая триплоидия, материнская делеция GRB10 (7р12.2), делеция GJB6 (13q12.11) и др.) [3,7,8]. Доля мозаичных клеток может значительно различаться, что, вероятно, является основной причиной морфологического и клинического полиморфизма МДП.…”

“…Васкуляризация промежуточных и терминальных ворсин в большинстве случаев соответ-строме кистозно-измененных ворсин при сохранении экспрессии в трофобласте, [10,11], описано также очаговое отсутствие экспрессии белка как в цитотрофобласте, так и в строме [12]. В плацентах с делециями GRB10 и GJB6 экспрессия р57 была положительной в трофобласте и строме ворсин [7,8].…”