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At least 811 records · Page 45Linked to original sources

PubMed2003

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.

UNLABELLED: The mitochondrial trifunctional protein (MTP) is a multienzyme complex which catalyses three of the four chain-shortening reactions in the beta-oxidation of long-chain fatty acids. Clinically, failure of long-chain fatty acid beta-oxidation leads to hypoketotic hypoglycaemia associated with coma, hepatopathy, skeletal myopathy and cardiomyopathy. We report on consanguineous parents with six children, four of whom had unexpectedly died in Egypt during the neonatal period due to cardiomyopathy of unknown aetiology and respiratory failure. After moving to Germany, two further children died at the age of 4 months and 12 h, respectively, with signs of respiratory and cardiac failure, hydrops fetalis and acidosis. Analysis of acylcarnitine profiles in dried blood spots of the last two children by electrospray tandem mass spectrometry was indicative of a long-chain fatty acid beta-oxidation disorder. Both infants were homozygous for a novel missense mutation (976G-->C) within a highly conserved region of the MTP beta-subunit gene. Immunoblot analysis in chorionic villi obtained during the subsequent pregnancy demonstrated absence of MTP. In fibroblasts and liver, activities of all three catalytic units of MTP were markedly decreased, further confirming the diagnosis of MTP deficiency. CONCLUSION: the detected mutation (976G-->C) within the beta-subunit of the mitochondrial trifunctional protein gene destabilises the protein, leading to complete deficiency and a poor prognosis. Immunoblot analysis of mitochondrial trifunctional protein in chorionic villi may be a valuable tool for the prenatal diagnosis of the disorder when the molecular genetic defect is unknown.

3-Hydroxyacyl CoA Dehydrogenases↗

PubMed2001

Apoptosis occurs in implantation site of the rhesus monkey during early stage of pregnancy.

The exact role of apoptosis that occurs in human placenta during the early stage of pregnancy remains unknown because of the difficulty in obtaining the intact implantation site. In this study, we used rhesus monkey as an animal model to examine apoptosis occurring in the implantation site at various stages of early pregnancy. It was shown that Fas and FasL mRNA and protein were localized in both the chorionic villi and glandular epithelium from day 15 to day 30 of pregnancy. Fas and FasL protein were also expressed in the epithelial plaque on day 15 of pregnancy. In situ 3'-end-labeling results showed that glandular epithelial cells underwent extensive apoptosis with obvious morphological degradation during the early stage of pregnancy. It was found that the cells that were 3'-end-labeled in the chorionic villi and anchoring villi were mainly localized in cytotrophoblast and cytotrophoblast column. It is therefore suggested that in primates apoptosis, which may be involved in the regulation of proliferation of trophoblast villi and degradation of epithelial plaque, as well as remodeling of the glands in the maternal decidua, may play an important role during the early stage of implantation and placentation.

Animals↗

PubMed2000

[A preliminary study on placenta hematopoiesis].

OBJECTIVE: To study the role of placenta on fetal hematopoiesis during embryo ontogeny, so as to find a new source of hematopoietic stem/progenitor cells (HSC/HPC) for clinical transplantation. METHODS: Cord blood was collected separately from cord vein and artery. CD(34)(+) cells were detected by FACS, CFU-GM semisolid agar culture, and hematopoietic growth factors (HGFs) by ELISA. The results of HE stain and CD(34) McAb immunohistochemistry stain of placenta chorionic villi were investigated. RESULTS: The CFU-GM yields and the percentage of CD(34)(+) and CD(34)(+)/CD(38)(minus sign) cells in cord vein were higher than that in artery. The cord vein contained larger amount of hematopoietic stimulating factors and similar level of hematopoietic inhibitory factors as compared with that in artery. Blood island, reticular cells and scattered CD(34)(+) cells were found in the mesenchyme of placenta chorionic villi. CONCLUSION: The placenta might be an another hematopoietic organ in ontogeny. It could be applied to clinical hematopoietic cell transplantation.

Antigens, CD34↗

PubMed2002

Cytomegalovirus infection in pregnancy.

OBJECTIVES: To investigate the effects of intrauterine human cytomegalovirus (HCMV) infection on pregnancy outcomes and infant development. METHODS: The study group consisted of the HCMV-IgM-positive offspring of 75 pregnant women, and a control group of the non-infected offspring of 73 pregnant women. Chorionic villi, amnionic fluid, and umbilical blood were obtained to detect HCMV-late mRNA with a reverse transcriptase-polymerase chain reaction (RT-PCR) assay. The pregnancy outcomes were followed up. For all offspring, neurological development was evaluated with neurosonography, audiologic development with the brainstem auditory evoked potential (BAEP), and psychomotor development with the Beyley Scale of Infant Development (BSID). RESULTS: In the study group the positive rate of late mRNA was 50% in the chorionic villi and 67.65% in the amnionic fluid and the umbilical blood; the incidence of abnormal pregnancy outcomes (abortion, preterm delivery, stillbirth, etc.) was much higher than in the control group (40% vs. 6.57%; chi(2)=24.06; P=0.001); the abnormal rate of neurosonography results at birth and 3 months after birth was higher in the study group than in the control group (P<0.05), as were BAEP values 4 months after birth (chi(2)=8.960; P=0.003). Scores for the Infant Mental Development Index (MDI) were apparently lower than in the control group. When congenitally infected children were tested at the age of 5.5-6.5 years with the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), their rate of mental retardation was still found to be approximately 20%. CONCLUSIONS: Intrauterine HCMV infection is closely related to abnormal pregnancy outcomes, infant neurological damage, mental retardation, and hearing loss.

Abortion, Spontaneous↗

PubMed1998

Transvaginal ultrasonography combined with color velocity imaging and pulsed Doppler to detect residual trophoblastic tissue.

The value of transvaginal B-mode ultrasonography combined with color velocity imaging and pulsed Doppler to detect retained trophoblastic tissue was evaluated prospectively in a series of 40 patients with postpartum (n = 15) or postabortion (n = 25) bleeding. Color velocity imaging was used to identify color-coded blood flow signals within myometrium and/or endometrium. Flow was subjectively quantified as absent, scanty or abundant. Pulsed Doppler was used to assess blood flow impedance by calculating the resistance index. The presence of abundant flow with a lowest resistance index of less than 0.45 was considered as suspicious of residual trophoblastic tissue. Twenty-two (55%) out of the 40 patients underwent dilatation and curettage and chorionic villi were demonstrated in 15 of these. Eighteen (45%) patients were managed conservatively. None of these patients suffered complications or needed readmission for curettage, and all of them were considered as not having retained tissue. On color pulsed Doppler ultrasound examination, 15 patients had suspected retained tissue; all of these underwent curettage and residual trophoblast was found in 14 (93.3%). Out of 25 patients considered as having no residual tissue on color pulsed Doppler ultrasound examination, seven underwent curettage and chorionic villi were found in one patient (false-negative rate 6.7%) All patients managed conservatively had an unsuspicious scan. We concluded that transvaginal ultrasonography combined with color velocity imaging and pulsed Doppler could be useful to detect retained trophoblastic tissue and to select patients suitable for conservative management.

Abortion, Induced↗

PubMed1992

Multiclefted nuclei. A helpful feature for identification of intermediate trophoblastic cells in uterine curetting specimens.

Intermediate trophoblast is a distinct form of trophoblast, the presence of which in uterine curettings is considered a reliable indicator of intrauterine pregnancy even in the absence of chorionic villi. However, the appearance of intermediate trophoblastic cells have not been described in sufficiently specific terms to permit their reliable identification, and distinction from decidual cells can be difficult. We have noticed for some time that the intermediate trophoblastic cells often show multiple deep clefts in the nuclei, and the present study was performed to address the issue of whether this nuclear feature is reliable for their identification. We reviewed 242 uterine curettings of intrauterine pregnancy, documented by the presence of chorionic villi, and were able to find a distinct population of cells with large, hyperchromatic, multiclefted nuclei scattered in the decidua in 88% of the cases. In most instances, these cells produced a characteristic variegated pattern that was readily recognizable at low magnification. Positive immunostaining for cytokeratin (CAM 5.2) in these isolated cells within the decidua confirmed their trophoblastic nature. In contrast, multiclefted nuclei were absent in the 51 negative control cases, which included decidualized endocervical polyps (40 cases), uterine curettings from patients with tubal pregnancy (10 cases), and endometriosis with decidual change (one case). We conclude that intermediate trophoblastic cells can usually be reliably identified in curettings of intrauterine pregnancy by their characteristic nuclear multiclefting.

Cell Nucleus↗

PubMed1994

[Maternal serum type III procollagen peptide (P-III-P) and 7S domain of type IV collagen (7S) as indicators of placental damage caused by toxemia of pregnancy].

By means of immunohistochemical techniques, we studied the localization of type III and IV collagen in normal and toxemic placentas. We also studied the maternal serum levels of type III procollagen peptide (P-III-P) and type IV collagen 7S domain (7S) in non-pregnant women, normal term women and cases toxemia of pregnancy. Immunohistochemical studies revealed that type III collagen exists in the connective tissues composing the villous core and type IV in the basement membranes of trophoblast cells and fetal vascular elements. Even in normal-appearing toxemic placenta, the amount of type III and IV collagen appeared to be increased compared with that in normal term placenta, but the amount of type III and IV collagen appeared to be decreased in the necrotized chorionic villi of severe toxemia. Measurement of the collagen-related substances revealed that those levels in toxemic pregnancy were much higher than those in normal term pregnancy. In toxemic pregnancy, the incidence of IUGR in the high P-III-P level group was increased significantly, and increased more apparently in both the high P-III-P and 7S groups. We believe that our data support our that P-III-P and 7S in maternal serum flow from the necrotized chorionic villi into the intervillous space, and that these measurements are significant indicators of placental damage caused by toxemia of pregnancy.

Collagen↗

PubMed2000

Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi.

Genetic defects of the zygote, such as chromosome aberrations, are the most frequent causes of abnormal embryonic development and spontaneous abortion. However, the underlying mechanisms remain unknown. Chromosome aberrations likely cause changes in placental morphology and function (such as size, shape, vascularity, and the presence of trophoblastic inclusion). We postulated that chromosome aberrations may affect rates of cell proliferation or programmed cell death (apoptosis) during the differentiation of chorionic villi. To address these questions, we evaluated cell proliferation using a monoclonal antibody to Ki-67 (a cell-cycle marker) and apoptosis using the in situ end-labeling method (TUNEL) on paraffin-embedded placental tissues. Tissues were obtained from spontaneous abortions in early gestational periods with normal (11 cases) and abnormal karyotypes (15 cases), as well as eight normal control placentas from elective abortions. Apoptotic cells were found in the stroma of all cases, but were significantly higher in number in the stroma of chromosomally abnormal versus chromosomally normal spontaneous abortions. The apoptotic index of the trophoblasts was not significantly different between groups. Cell proliferation was higher in muscularized blood vessels in chromosomally normal placentas (both elective and spontaneous abortions) versus chromosomally abnormal spontaneous abortions. Cell proliferation was different in the trophoblast and stroma between the groups but to a lesser degree than in blood vessels. The morphological and biological data presented here suggest that: (1) chromosomally abnormal spontaneous abortions may occur because of different mechanisms than chromosomally normal spontaneous abortions, (2) apoptosis of the stromal cells and cell proliferation in blood vessels and stroma play an important role in the differentiation and functioning of villi, and (3) these changes could explain the etiology of spontaneous abortion and growth retardation of chromosomally abnormal embryos.

Abortion, Induced↗

PubMed1996

Diagnosis of fetal rubella infection with reverse transcription and nested polymerase chain reaction: a study of 34 cases diagnosed in fetuses.

OBJECTIVE: Our purpose was to develop a reliable method for prenatal diagnosis of fetal rubella infection through the detection of viral ribonucleic acid extracted from the chorionic villi, amniotic fluid, or fetal blood in pregnant women. STUDY DESIGN: Double amplification of rubella viral ribonucleic acid by nested polymerase chain reaction after reverse transcription was applied to samples from 34 women suspected of having rubella. The results were compared with those of serum antibody and levels of rubella virus-specific immunoglobulin M antibodies in fetal blood. RESULTS: Viral ribonucleic acid was revealed in 8 of 34 cases (23.5%). In the remaining 26 cases, healthy babies were born in 24, 1 was electively aborted, and 1 died in the thirty-sixth week of pregnancy of unknown causes. CONCLUSIONS: This method allowed very early detection of fetal rubella infection by sampling of chorionic villi and amniotic fluid compared with evaluation of the maternal symptoms and serum antibody levels. Fetal blood was also more useful for making a diagnosis up to the twentieth week of pregnancy than was measuring rubella virus-specific immunoglobulin M antibodies.

Adult↗

PubMedDate not supplied

Effects of maternal smoking on placental morphology.

BACKGROUND: Maternal smoking is one of leading causes of premature labour and low birth weight babies. Nicotine and carbon monoxide both induce degenerative changes as well as premature aging of placenta. Degenerative changes induce increased amount of collagen in chorionic villi and increased thickness of subtrophoblastic basement membrane. Premature aging is indicated by increased number of syncytial buds and higher percentage of apoptosis in smoker's placentae. Premature aging and degenerative changes may reduce the functional component of placenta and lead to abnormal outcome of pregnancy. This study was designed to determine the effects of maternal smoking on placental morphology. METHODS: Total 40 full term placentae, 20 from normal and 20 from smoker mothers were studied histologically. Full thickness pieces of each placenta from standard area were taken for paraffin embedment. Four micron thick sections were cut on rotary microtome and stained with haematoxylin and Eosin, Malloryis trichrome and hexamine silver for syncytial buds, Apoptotic cells, chorionic villous collagen and Subtrophoblastic basement membrane. RESULTS: This study demonstrates that there is extensive aging and degenerative changes in smoker's placentae. The aging process is shown by increased syncytial buds per unit area and high percentage of apoptosis. Degenerative changes are indicated by increased amount of collagen in chorionic villi and increased thickness of subtrophoblastic basement membrane. CONCLUSION: Extensive premature aging and degenerative changes in smoker's placentae decrease the functional component of an organ, reducing its nutritive and excretory functions. This may be the cause of low birth weight babies in smokers. Extensive loss of trophoblasts by apoptosis and syncytial buds may lead to hormonal imbalance and premature labour in smokers.

Adult↗

PubMed1988

Absence of expression of a human endogenous retrovirus is correlated with choriocarcinoma.

We examined the RNA expression of a human endogenous provirus, termed ERV3, in 170 human tissue and cell specimens. The highest expression was found in normal placental chorionic villi as mRNAs of 9, 7.3, and 3.5 kb. The 7.3-kb RNA species was found only in the placenta. ERV3 mRNA was expressed in most other normal and malignant tissues at a level which was 2-10% of that seen in placenta. However, several tissues and tumor cell lines had higher transcriptional levels, equal to 10-60% of the placental level. In contrast, an almost complete abrogation of ERV3 mRNA expression was noted in choriocarcinoma cell lines and in an invasive hydatidiform mole tissue biopsy. This abrogation was not linked to deletions or rearrangements of the ERV3 genome. It appeared to be unassociated with methylation because the ERV3 provirus was similarly methylated in the DNA of placental chorionic villi and choriocarcinoma cells, and ERV3 transcription in choriocarcinoma cells was not induced by 5-azacytidine. These results suggest that the loss of ERV3 mRNA expression is associated with susceptibility to choriocarcinoma.

Choriocarcinoma↗

PubMedDate not supplied

Intraplacental choriocarcinoma associated with viable pregnancy: pathologic features and implications for the mother and infant.

Choriocarcinoma arising in the placenta, or intraplacental choriocarcinoma, has seldom been reported, particularly in the absence of maternal metastases. Reluctance to diagnose choriocarcinoma in the presence of chorionic villi can delay diagnosis; however, timely diagnosis of choriocarcinoma is prognostically important, both for the mother and infant. We report the clinicopathologic findings in five mothers and infants in whom choriocarcinoma was identified in the placenta. None of the mothers had a history of gestational trophoblastic disease in previous pregnancies. Three placentas were similar with a single small lesion grossly suggesting a small infarct; microscopically these consisted of infarcted areas surrounded by choriocarcinoma. These three mothers were unusual in that none had metastatic choriocarcinoma; two were treated with chemotherapy and remained disease-free; the third was lost to follow-up shortly following delivery. The remaining two mothers had known pulmonary metastases at time of delivery. One of these latter two placentas contained a large marginal lesion microscopically identified as choriocarcinoma. The fifth placenta had rare microscopic foci of choriocarcinoma, and sheets of necrotic choriocarcinoma were identified in "blood clot" submitted with the placenta. In four of the five cases the choriocarcinoma appeared to be arising from otherwise normal chorionic villi, and in no case was there invasion of the villous stroma. All of the infants survived, and none had evidence of choriocarcinoma. These cases support the concept that choriocarcinoma associated with otherwise normal pregnancy arises in the placenta and may be more common than reported.

Adult↗

PubMed1990

Placental site trophoblastic tumor: with features between an exaggerated placental site reaction and a placental site trophoblastic tumor.

Chorionic villi, whose presence in cases of trophoblastic disease is normally used to exclude both a choriocarcinoma and placental site trophoblastic tumor (PSTT), were present in the initial uterine curettage specimen of a trophoblastic tumor. The lesion shared morphologic features of both an exaggerated placental site reaction and a PSTT. There was infiltration of the posterior wall of the uterus by small clusters and isolated cells which had a prominent affinity for vessels and resembled a usual placental bed reaction. There was, however, deep involvement of myometrium with extension to the cervix, and the condition persisted for 5 months after uterine evacuation. Because different treatment is entailed, identification of this lesion as a tumor of nonvillous trophoblast is also of great importance in a region where the more usual forms of trophoblastic disease represent a declining but not infrequent event. When products of gestation are examined, the possibility of a PSTT should be considered and the clinician alerted if there is a suggestion of excessive intermediate trophoblastic activity, regardless of the presence of chorionic villi. While this may result in the unnecessary followup of some cases, it would permit, with the aid of serial beta-hCG and HPL levels, the earlier detection of PSTTs.

Adult↗

PubMed2004

Placental pathology: its impact on explaining prenatal and perinatal death.

This review considers six main situations in which pathologists are expected to report and interpret placental messages for obstetricians, neonatologists and, indirectly, parents: (1) abortion is the body's corrective response to the embryonic defect suggested by malformed chorionic villi; (2) infection causing chorionic villous inflammation is specific and haematogenous; pathogen identification is mandatory, in contrast to chorioamnionitis caused by increased local immunosuppression allowing indiscriminate bacterial entry; (3) prematurity and (4) intrauterine growth restriction are often associated with pregnancy-specific disease (pre-eclampsia) or pre-existing maternal conditions (systemic lupus); parental studies may improve outcome in subsequent pregnancies; (5) intrauterine death near term is often due to placental dysmaturity featuring a severely reduced number of syncytiocapillary membranes; it accounts for the death in utero of 3 in 1000 pregnancies; detection helps to minimise recurrence in subsequent pregnancies; (6) twins are best confirmed as monozygous by the absence of chorionic tissue in the dividing membranes; most monochorionic twins have vascular connections whose detailed analysis is requested only if there are inter-twin differences in growth and colour. From a formal point of view, many more bits of pathology than discussed in this review can be found in placentas and, with the advances in ultrasonography, might even be seen prior to birth. The extent of such a disturbance might ultimately affect fetal growth, which is amenable to prenatal detection offering the chances for an appropriate management. In contrast, dysmaturity is a great challenge as no predictive tests are as yet available.

Adult↗

PubMed1991

The vanishing twin: morphologic and cytogenetic evaluation of an ultrasonographic phenomenon.

Twin pregnancy was observed by ultrasonographic examination in the 6th week of gestation. After singleton term delivery a thickening of the membranes opposite to the main placenta showed degenerated chorionic villi embedded between one layer of amnion and chorion; no fetal parts were observed. Villus cells from both placentas were mainly diploid; 2 of 30 were tetraploid. However, 19 of 30 cells from membranes overlying the satellite placenta were tetraploid. Marker analysis was consistent with duplication of a normal conception diploid chromosome complement as the mechanism for tetraploidy. Postconceptional nondisjunction leading to tetraploidy in one twin conceptus may explain demise in early pregnancy. Tetraploidy observed by chorionic villus biopsy must be confirmed by amniocentesis before interruption of the pregnancy is considered.

Adult↗

PubMed1989

Rapid karyotyping of spontaneous abortions with trophoblastic villi.

24-hour short term culture of trophoblastic villi provided rapid and accurate karyotypes in spontaneous first trimester abortions. Good quality metaphases were obtained in 60.0% of villous cultures if these were set up within 8 hours of uterine evacuation, in contrast to the 10.3% success rate with intervals longer than 8 hours. 21% (4 of 19) of first trimester pregnancy losses were chromosomally abnormal, 3 of which were examples of autosomal trisomy; in 2 cases, the mothers were more than 37 years of age. The results of successful karyotyping reported here compare well with previous reports of long term culture of minced fetal material. Further, the risks of infected cultures, maternal contamination and pseudomosaicism are minimal with the short-term culture technique described here. Chorionic villi isolated from spontaneously aborted material are a simple and practicable source of fetal material for rapid and accurate cytogenic diagnosis in early spontaneous abortions.

Abortion, Spontaneous↗

PubMed1988

First trimester diagnosis of Wolman's disease.

Wolman's disease was diagnosed in the first trimester of pregnancy by the direct demonstration of acid lipase deficiency in chorionic villi. The diagnosis was confirmed by studies on cultured chorionic villus cells and fetal skin fibroblasts. Acid lipase activity was assayed with both 4-methylumbelliferyl-palmitate and radiolabelled cholesterol oleate as substrates. The higher specificity of the enzyme for the latter, natural, substrate makes it superior in prenatal diagnosis.

Chorionic Villi Sampling↗

PubMed1987

Chorionic villus sampling by rigid forceps: experience with 300 cases at risk for thalassemia major.

In this article we report the results of chorionic villus sampling by a biopsy forceps inserted via the cervix under ultrasonic guidance in 300 pregnancies at risk for thalassemia major. A sufficient amount of chorionic villi for deoxyribonucleic acid analysis by oligonucleotide hybridization was obtained in all cases tested but one, with a success rate of 99.7%. The percentage of fetal loss, expressed as proportion of continuing pregnancies, was 4.8%. To verify the results, we carried out amniocyte deoxyribonucleic acid analysis in all the continuing pregnancies for the first 100 cases and in those in which trophoblast deoxyribonucleic acid analysis showed the heterozygous state for beta-thalassemia for the second 200 cases. At the beginning we had two cases of decidual contamination in such an amount to cause misdiagnosis. Successively more careful elimination of decidual tissue from villi avoided avoided this pitfall. These results indicate that chorionic villus sampling by a rigid forceps is a reliable and relatively safe method for fetal diagnosis of genetic diseases by deoxyribonucleic acid analysis.

Biopsy↗