Cases Of Placental Mesenchymal Dysplasia Research Articles

Displasia mesenquimal placentaria

Placental mesenchymal dysplasia is a rare entity, confused with ultrasound and macroscopy with partial mole due to vesicular lesions and the presence of a fetus. Microscopy reveals hydropic trunk villi with great mesenchymal hyperplasia and prominent vascular lesions but without hyperplasia of the trophoblastic epithelium. The fetus, usually female, may be normal or present malformations, tumors or chromosomopathies. We present the study of four cases of placental mesenchymal dysplasia; three first-pregnancies, aged 39 and 20, and a second-pregnancy, aged 26. The oldest in the third trimester presented with preeclampsia and a female stillbirth with pulmonary and splenic anomalies, the other two presented vaginal bleeding and pelvic pain and one case was a finding in prenatal control at 8 weeks of gestation. In three cases, fetus and embryo were observed, two of them had a necropsy.

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.

Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome.

Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly, aneurysmally dilated chorionic plate vessels, thrombosis of the dilated vessels, and large grapelike vesicles, and is often mistaken for partial or complete hydatidiform mole with a coexisting normal fetus. Androgenetic/biparental mosaicism (ABM) has been found in many PMD cases. Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with complex and diverse phenotypes and an increased risk of developing embryonal tumors. There are five major causative alterations: loss of methylation of imprinting control region 2 (KCNQ1OT1:TSS-DMR) (ICR2-LOM), gain of methylation at ICR1 (H19/IGF2:IG-DMR) (ICR1-GOM), paternal uniparental disomy of 11 (pUPD11), loss-of-function variants of the CDKN1C gene, and paternal duplication of 11p15. Additional minor alterations include genetic variants within ICR1, paternal uniparental diploidy/biparental diploidy mosaicism (PUDM, also called ABM), and genetic variants of KCNQ1. ABM (PUDM) is found in both conditions, and approximately 20% of fetuses from PMD cases are BWS and vice versa, suggesting a molecular link. PMD and BWS share some molecular characteristics in some cases, but not in others. These findings raise questions concerning the timing of the occurrence of the molecularly abnormal cells during the postfertilization period and the effects of these abnormalities on cell fates after implantation.

Dealing with symptoms in the general population: lessons learned from the Danish Symptom Cohort

<b>Background:</b> Placental mesenchymal dysplasia (PMD) is a distinct syndrome of unknown aetiology that is associated with significant fetal morbidity and mortality. Intrauterine growth restriction is common, yet, paradoxically, many of the associated fetuses/newborns have been diagnosed with Beckwith-Wiedemann syndrome (BWS). <b>Methods:</b> We report two cases of PMD with high levels of androgenetic (complete paternal uniparental isodisomy) cells in the placenta and document, in one case, a likely androgenetic contribution to the fetus as well. <b>Results:</b> The same haploid paternal complement found in the androgenetic cells was present in coexisting biparental cells, suggesting origin from a single fertilisation event. <b>Conclusions:</b> Preferential allocation of the normal cells into the trophoblast explains the absence of trophoblast overgrowth, a key feature of this syndrome. Interestingly, the distribution of androgenetic cells appears to differ from that reported for artificially created androgenetic mouse chimeras. Androgenetic mosaicism for the first time provides an aetiology for PMD, and may be a novel mechanism for BWS and unexplained intrauterine growth restriction.

A Challenging Diagnosis: Placental Mesenchymal Dysplasia-Literature Review and Case Report.

We describe a 22-year-old woman (2-gravid) case who was referred to our clinic at 18 weeks of gestation for a placenta with vesicular lesions discovered on prenatal examination routine. An ultrasound exam at 31 weeks of gestation showed numerous vesicular lesions, which gradually augmented as the pregnancy advanced. A live normal-appearing fetus was confirmed by intrauterine growth restriction (IUGR). The maternal serum β-human chorionic gonadotropin level remained in normal ranges. At some point, a multidisciplinary medical consensus considered the termination of the pregnancy, but the patient refused to comply. At 33 weeks of gestation, preterm premature rupture of membranes (pPROM) occurred, and she spontaneously delivered a 1600 g healthy female baby with a good long-term outcome. Placental mesenchymal dysplasia (PMD) was retrospectively diagnosed after confronting the data from ultrasound, chorionic villus sampling (CVS), amniocentesis, pathological examination, and immunohistochemical stain. The lack of sufficient reports of PMD determines doctors to be cautious and reserved, approaching these cases more radically than necessary. We reviewed this disease and searched for all cases of PMD associated with healthy, live newborns.

Clinical features and perinatal outcomes of 48 cases of pregnancy complicated with placental cystic lesions

Objective: To investigate the clinical characteristics and perinatal outcomes of pregnancy with placental cystic lesions. Methods: A retrospective study was carried out on 48 pregnant women diagnosed as pregnancy complicated with placental cystic lesions from January 2000 to January 2020 at the Women's Hospital, Zhejiang University School of Medicine. The clinical features, pathological diagnosis and perinatal outcome were analyzed. Results: The age of 48 cases was (30±5) years, and the diagnostic gestational week of ultrasound was (24±8) weeks. Twenty-five cases in which showed a cystic mass at the fetal surface were diagnosed as placental cyst. The live birth rate was 100% (25/25) and the premature birth rate was 20% (5/25). Twenty-three cases showed "honeycomb like" cystic echo. Cystic lesions of 10 cases were located in the uterine cavity connected with the margin of the normal placenta, and finally diagnosed as hydatidiform mole and coexisting fetus (HMCF). Six cases of HMCF terminated pregnancy, and the live birth rate was 4/10, the premature delivery rate was 2/4. Cystic lesions of 13 cases were located in the placenta substance, and finally diagnosed as 4 cases of placental mesenchymal dysplasia (PMD) and 9 cases of focal chorionic edema; the live birth rate was 6/13 and the premature delivery rate was 4/6. The median hCG was lower in focal chorionic edema group [80 kU/L (60-110 kU/L)] than in the groups of HMCF [240 kU/L (180-430 kU/L)] and PMD [360 kU/L (210-700 kU/L)], and the differences were statistically significant (all P<0.01). Conclusions: For pregnancy complicated with placental cystic lesions, prenatal ultrasound should be performed to evaluate the shape, location and blood flow of the lesions. Maternal serological examination and invasive prenatal diagnosis are helpful for prenatal diagnosis and treatment. Due to the difference of perinatal outcomes, maternal and fetal complications, individualized pregnancy management should be carried out.

Variants in Maternal Effect Genes and Relaxed Imprinting Control in a Special Placental Mesenchymal Dysplasia Case with Mild Trophoblast Hyperplasia.

Placental mesenchymal dysplasia (PMD) and partial hydatidiform mole (PHM) placentas share similar characteristics, such as placental overgrowth and grape-like placental tissues. Distinguishing PMD from PHM is critical because the former can result in normal birth, while the latter diagnosis will lead to artificial abortion. Aneuploidy and altered dosage of imprinted gene expression are implicated in the pathogenesis of PHM and also some of the PMD cases. Diandric triploidy is the main cause of PHM, whereas mosaic diploid androgenetic cells in the placental tissue have been associated with the formation of PMD. Here, we report a very special PMD case also presenting with trophoblast hyperplasia phenotype, which is a hallmark of PHM. This PMD placenta has a normal biparental diploid karyotype and is functionally sufficient to support normal fetal growth. We took advantage of this unique case to further dissected the potential common etiology between these two diseases. We show that the differentially methylated region (DMR) at NESP55, a secondary DMR residing in the GNAS locus, is significantly hypermethylated in the PMD placenta. Furthermore, we found heterozygous mutations in NLRP2 and homozygous variants in NLRP7 in the mother’s genome. NLRP2 and NLRP7 are known maternal effect genes, and their mutation in pregnant females affects fetal development. The variants/mutations in both genes have been associated with imprinting defects in mole formation and potentially contributed to the mild abnormal imprinting observed in this case. Finally, we identified heterozygous mutations in the X-linked ATRX gene, a known maternal–zygotic imprinting regulator in the patient. Overall, our study demonstrates that PMD and PHM may share overlapping etiologies with the defective/relaxed dosage control of imprinted genes, representing two extreme ends of a spectrum.

Clinical manifestations of placental mesenchymal dysplasia in Japan: A multicenter case series.

This study aimed to evaluate the clinical features and pregnancy outcomes of placental mesenchymal dysplasia (PMD) in Japan. We requested detailed clinical information and placental tissue of PMD cases in 2000-2018 from Japanese facilities with departments of obstetrics and gynecology and analyzed the pregnancy course and neonatal outcomes. We collected 49 cases of PMD. Of 18 patients with measured maternal serum alpha-fetoprotein (MSAFP) levels, 15 (83.3%) had elevated levels. Maternal serum human chorionic gonadotropin (MShCG) levels were transiently elevated in five (17.8%) of 28 patients. Forty-seven patients continued their pregnancies. All pregnancies were singleton and 40 (85.1%) were associated with adverse events including fetal growth restriction (FGR), threatened premature delivery, fetal demise, and hypertensive disorder of pregnancy in 34 (72.3%), 14 (29.8%), eight (17.0%), and six (12.8%) patients, respectively. Of 47 infants, there were eight stillbirths. There were 40 (85.1%) female infants, and eight (17.0%) had Beckwith-Wiedemann syndrome. Of 39 live births, 23 (59.0%) were associated with premature induction of labor or cesarean section for obstetric indications related to FGR. Eighteen (46.2%) neonates had complications. PMD-affected placentas were pathologically heterogeneous in both grossly PMD-affected and non-affected areas. Our study included the largest number of PMD cases with detailed clinical information. PMD is a high-risk condition for both the mother and the child. Elevated MSAFP levels with normal MShCG levels indicate PMD. Conventional perinatal management of FGR in Japan might be effective in reducing the fetal mortality rate.

Case Series of Placental Mesenchymal Dysplasia with Live Birth

Objective: Placental mesenchymal dysplasia (PDM) is a rare disease, the cause is unknown, some are called mesenchymal stem hyperplasia, and some are called pseudo-vesicular block or vascular malformation. The aim is to report the clinical and pathologic characteristics of three cases of placental mesenchymal dysplasia (PMD). Method: Pathologic and clinical data were retrieved from the electronic medical records. The data were reviewed and summarized by the same pathologist. Results: Maternal age was respective 36 years, 31 years and 33 years. Cesarean section was performed at 39 weeks, 37 weeks and 38 weeks, respectively. The newborns were born with birth weight of 1790, 2370 and 3150 grams, respectively, with placenta weight of 590, 579 and 510 grams respectively. Placenta for pathological examination was performed macroscopically thick-walled vessels. Microscopic observation showed that the part of the stem villus was saclikely dilated, the blood vessels were thickened in the villi, the blood vessel wall was thickened, the villus interstitial was loose, and the mucus was changed. Part of the villus edema and degeneration, no trophoblastic hyperplasia, the final villus structure is normal. Conclusion: The size of the lesions in the Placental mesenchymal dysplasia and the location of the lesion is closely related to the birth weight of the newborn. Detailed histology is necessary for diagnosis and differential diagnosis.

Genetic analysis of four placental mesenchymal dysplasia cases

Genetic analysis of four placental mesenchymal dysplasia cases

Placental mesenchymal dysplasia: a case report and literature review

Objective To summarize the clinical, sonographic and pathological characteristics, and the perinatal outcomes of pregnancies complicated by placental mesenchymal dysplasia (PMD). Methods We reported the diagnosis and treatment of a case of PMD in Tianjin Union Medical Center. Pertinent Chinese literatures on PMD were reviewed to analyze the clinical features and the outcomes for mothers and infants. Results (1) Case report: The patient was admitted to our hospital with elevated blood pressure in July 2011 and underwent caesarean section at 30+1 gestational weeks indicated by severe preeclampsia and fetal distress. PMD was diagnosed by placental pathological examination. The patient was discharged from the hospital after oral antihypertensives treatment with stabilized blood pressure. Both the mother and the child were healthy during follow-ups until August 2018. (2) Literature review: A total of 14 cases of PMD were reported domestically including the index case. The average maternal age was 27.9(23-42). Of all the 14 fetuses, half were born alive and half were died in the uterus; two were male, 10 were female and two of unknown sex. Sonographic findings of 10 cases showed thickened placenta with hypoechoic areas. Human chorionic gonadotropin (hCG) was tested in five cases, and the results were all normal. One case was tested for maternal serum alpha fetoprotein (AFP), which was increased. Among the 14 cases, there were two of preeclampsia, six of intrauterine death, three of fetal distress and one of the premature rupture of fetal membranes. Four out of the seven live births were born prematurely. According to the medical record, the average weight of placentas of seven gravidas was 665 g, and eight placentas were larger than the gestational age in size. Pathological examinations showed 11 placentas were covered with grape-like cystic vesicles. No trophoblastic proliferation or stromal trophoblastic inclusion was observed in 12 cases under the microscope. Conclusions PMD is mainly characterized by enlarged and cystic placenta with hypoechoic areas in sonographic findings as well as elevated AFP and normal hCG concentrations in serum. It is more likely to occur in female fetuses with normal karyotype. Placentas with significantly increased size and weight and grape-like cystic vesicles are typical features of PMD that can be detected by pathological examinations. Some gravidas may develop hypertensive disorders of pregnancy and deliver prematurely due to fetal distress, but the maternal and neonatal outcomes are usually good. Close monitoring of the gravidas and fetuses with PMD may help to improve pregnancy outcomes. Key words: Mesoderm; Placenta diseases; Diagnosis, differential; Pregnancy outcome

Complete hydatidiform mole with a twin pregnancy at 26 weeks: a rare obstetric complication.

Complete hydatidiform mole with a twin pregnancy at 26 weeks: a rare obstetric complication.

Placental mesenchymal dysplasia

To carry out a clinical and morphological analysis of 6 cases of placental mesenchymal dysplasia (PMD) that is not associated with Beckwith-Wiedemann syndrome. Medical records, placental macroscopic and microscopic changes, histochemical (MSB staining) and immunohistochemical studies of placental tissue with antibodies against p57, CD34, smooth muscle actin, desmin, and Ki-67 were analyzed. Vascular anomalies in the chorionic plate and stem villi, the increased size and edema of the stem villi during normal formation of the terminal branches of the villous tree, the lack of proliferation of villous trophoblast were the typical signs of PMD and were noted in all cases. Comparison of the results of ultrasonography with the morphological pattern of the disease suggested that there were ultrasound signs that were typical of PMD. The characteristics of the course and outcomes of pregnancy in PMD were given. The features of morphological changes in the presence of PMD concurrent with preeclampsia were found. Significant variability in p57 expression in PMD was shown and variants of changes given. There were no substantial features of the expression of desmin and smooth muscle actin in PMD. MDP has typical morphological and ultrasound signs. The significant variability in the levels of chorionic gonadotropin and alpha-fetoprotein and in the expression of p57 does not allow their use in the differential diagnosis of PMD. The high incidence of thrombotic events in the intervillous space and fetal vessels, as well as intrauterine growth restriction, intrauterine hypoxia, and an impaired neonatal adaptation period in PMD should be taken into account when determining the management tactics for female patients and newborns.

Molecular genetic investigation of placental mesenchymal dysplasia

Molecular genetic investigation of placental mesenchymal dysplasia

Two cases of placental mesenchymal dysplasia: Case reports

Two cases of placental mesenchymal dysplasia: Case reports

Prenatal differential diagnosis of complete hydatidiform mole with a twin live fetus and placental mesenchymal dysplasia by magnetic resonance imaging.

To assess the use of magnetic resonance imaging (MRI) for prenatal differentiation between complete hydatidiform mole with a twin live fetus (CHMTF) and placental mesenchymal dysplasia (PMD). Three CHMTF cases and three PMD cases, from two institutions over a 6-year period, were retrospectively included in this study. Clinical findings including age, pregnancy history, serum hCG level, ultrasonography findings, complications of the mother, outcome of the fetus, and results of chromosomal study of fetus, amniotic fluid and lesion, if possible, were noted. MRI findings were evaluated by two radiologists with respect to the location of the disease (intra- or extra-fetal sac), the presence of multicystic component, and presence of intra- or extra-lesional hemorrhage. In all six cases, the diseases were recognized as multicystic lesions by ultrasonography and MRI. In two of three CHMTF cases, patients continued with the pregnancy, which resulted in spontaneous abortion. In one case of CHMTF, the patient underwent artificial abortion, after which the mole progressed into an invasive mole with lung metastases. All three PMD patients had live births, and two of the three babies had fetal growth restriction. By MRI, CHMTF was located within an extra-fetal sac accompanied by intra- and/or extra-lesional hemorrhage, while PMD was located within the placenta in the fetal sac without hemorrhage. MRI could provide important information about the prenatal differential diagnosis of CHMTF and PMD, based on the pathophysiology and characteristics of the diseases.

Placental Mesenchymal Dysplasia with Hepatic Mesenchymal Hamartoma: A Case Report and Literature Review

Placental mesenchymal dysplasia (PMD) is characterized by placentomegaly and grapelike vesicles resembling a partial molar pregnancy and in most cases, a phenotypically normal fetus. Hepatic mesenchymal hamartoma (HMH) is a benign hamartomatous proliferation of mesenchymal liver tissue. PMD has been associated with HMH. Although rare, in combination, it is known to carry a poorer prognosis than in fetuses without structural abnormalities. There are only a few reported cases of PMD and associated HMH with varying management strategies and outcomes, precluding ascertainment of the most appropriate treatment plan. We present a case of PMD with associated cystic HMH resulting in fetal death. We also reviewed the published literature on this issue and explored possible management strategies to prevent adverse fetal and neonatal outcomes.

Three cases of placental mesenchymal dysplasia in our hospital

Placental amino acid transport is essential for optimal fetal growth and development, with a reduced fetal provision of amino acids being implicated as a potential cause of fetal growth restriction (FGR). Understanding placental insufficiency related FGR has been aided by the development of mouse models that have features of the human disease. However, to take maximal advantage of these, methods are required to study placental function in the mouse. Here, we report a method to isolate plasma membrane vesicles from mouse placenta near-term and have used these to investigate two amino acid transporters, systems A and β, the activities of which are reduced in human placental microvillous plasma membrane (MVM) vesicles from FGR pregnancies. Plasma membrane vesicles were isolated at embryonic day 18 by a protocol involving homogenisation, MgCl2 precipitation and centrifugation. Vesicles were enriched 11.3 ± 0.5-fold in alkaline phosphatase activity as compared to initial homogenate, with minimal intracellular organelle contamination as judged by marker analyses. Cytochemistry revealed alkaline phosphatase was localised between trophoblast layers I and II, with intense reaction product deposited on the maternal-facing plasma membrane of layer II, suggesting that vesicles were derived from this trophoblast membrane. System A and system β activity in mouse placental vesicles, measured as Na+-dependent uptake of 14C-methylaminoisobutyric acid (MeAIB) and 3H-taurine respectively confirmed localisation of these transporters to the maternal-facing plasma membrane of layer II. Comparison to human placental MVM showed that system A activity was comparable at initial rate between species whilst system β activity was significantly lower in mouse. This mirrored the lower expression of TAUT observed in mouse placental vesicles. We conclude that syncytiotrophoblast layer II-derived plasma membrane vesicles can be isolated and used to examine transporter function.

Placental mesenchymal dysplasia associated with androgenetic/biparental mosaicism

Placental mesenchymal dysplasia associated with androgenetic/biparental mosaicism

Placental mesenchymal dysplasia: A rare clinicopathologic entity confused with molar pregnancy

Placental mesenchymal dysplasia (PMD) is a rare placental abnormality characterised by placentomegaly and grape-like vesicles resembling partial mole by ultrasonography, but in contrast to partial mole can co-exist with a viable fetus. Although the karyotype is normal, the fetus is at increased risk for intrauterine growth restriction, intrauterine fetal demise or perinatal death and Beckwith–Wiedemann syndrome. Prenatal diagnosis is difficult and the final diagnosis is usually achieved by postpartum histological examination of the placenta. We present two recent cases of placental mesenchymal dysplasia with poor obstetric outcome. One fetus presented with reduced growth parameters, while the other fetus showed hepatosplenomegaly and early hydropic changes that appear to be associated with Beckwith–Wiedemann syndrome. In this report, the clinico-pathological features of two cases of PMD are discussed and the differentiation from a partial mole is highlighted. This study also supports the utility of cytogenetic ploidy analysis and p57KIP2 protein staining in the evaluation of pregnancies with PMD.