Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Chorionic Villi”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 289 records · Page 16Linked to original sources
PubMed1990

Prenatal diagnosis of hemophilia A by DNA analysis of chorionic villi.

Hemophilia A is an X-linked recessive single gene disease. If a female is a carrier, her sons have a 50% risk of being affected. Five gravidas, each with a positive family history of hemophilia A, were collected for prenatal diagnosis using DNA analysis on chorionic villi. We used two closely linked extragenic DNA markers, St14 and DX13, and three restriction enzymes, TaqI, MspI, and BglII, to study four restriction fragment length polymorphisms in the Xq28 region. From family analysis, haplotypes were constructed to track the inheritance of X-chromosomes. In family 1, the male fetus inherited the X-chromosome from his normal grandfather, thus his probability of being affected was predicted to be less than 5%. In families 2 and 3, the gravidas inherited the maternal X-chromosome with a different haplotype from that of the affected brother or nephew, thus they both have a low probability (less than 5%) of being carriers. In family 4, the gravida and her male fetus inherited the same X-chromosome as her affected brother. With coagulation assay also showing a high probability of the gravida being a carrier, the fetus was at high risk for the disease. On pregnancy termination, fetal plasma analysis confirmed the diagnosis. In family 5, the gravida's mother had homozygous haplotypes, making the distinction between two X-chromosomes impossible. Coagulation assay classified the gravida as a probable carrier.(ABSTRACT TRUNCATED AT 250 WORDS)

Chorionic Villi Sampling↗
PubMed1985

Direct-vision sampling of chorionic villi during extra-amniotic instillation of physiologic saline solution: effect on intrauterine pressure and fetal heart activity.

After 150 ml of physiologic saline solution had been infused into the extra-amniotic space before first-trimester vacuum aspiration abortion, intrauterine pressure ranged between 16 and 23 mm Hg, thus not more than during Braxton Hicks contractions. At chorionic villi sampling during continuous saline solution infusion, fetal heart activity (beats per 15 seconds) decreased temporarily from about 36 to about 33.

Amnion↗
PubMed1999

Rapid one-day fluorescence in situ hybridisation in prenatal diagnosis using uncultured amniocytes and chorionic villi.

Rapid assays for the detection of the common chromosomal aneuploidies using DNA probes to chromosomes 13, 18, 21, X and Y have been developed in recent years. In this study, we report our experience using fluorescence in situ hybridisation (FISH) with uncultured amniocytes from amniotic fluids (AF) and cells from chorionic villus sampling (CVS) for prenatal diagnosis in 239 assays. Only 2 ml of AF or 5 mg of chorionic villi were required for FISH analysis using region-specific probes to chromosome 13, 18, 21, X and Y. Results were informative in all the assays conducted in this study. The average time to obtain a result was 24 hours. However, the results for chromosome X, Y and 18 were ready within four hours. The criteria employed for result interpretation were stringent. In a normal finding, at least 80% of all nuclei observed must have 2 discrete signals per cell. In a suspected abnormal case, a minimum of 60% of all nuclei observed must have one (monosomy X) or 3 signals (trisomy) per cell. One trisomy 13 and two trisomy 21 cases were detected. All FISH results were confirmed by karyotyping. Subsequent karyotyping of the resultant abortuses gave further confirmation of the results. The results obtained showed 100% positive and negative predictive values. This study shows that FISH can be used as a rapid routine assay in conjunction with full karyotyping analysis. Its prognostic value is especially important for patients with late referrals, parental anxiety, high-risk pregnancies identified by maternal serological screening and suspected foetal abnormalities detected by ultrasonographic examination.

Adult↗
PubMed2000

Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Delta(7)-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had been performed at 30 weeks because oligohydramnios and atrioventricular septal defect were noted on fetal ultrasound. On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally, and cutaneous syndactyly of toes two-three bilaterally suggested SLOS. We hypothesized that SLOS could be confirmed by analysis of tissue sterols despite extensive autolysis, and by measurement of enzyme activity in CV cells. Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. CV cells were unable to convert any ergosterol to brassicasterol after a 72 h incubation period while control CV cells reduced 12.6-71.8% of ergosterol to brassciasterol in a 72 h period. SLOS was confirmed by measurement of elevated 7-dehydrocholesterol (7-DHC) in the CV cells. Measurements of sterols were made in multiple fetal tissues. All tissues analysed showed elevated 7-DHC with markedly increased 7-DHC/cholesterol ratios.

Adult↗
PubMed1989

[Sex determination of the embryo by DNA studies of chorionic villi samples].

The first step in the prenatal diagnosis of X-linked genetic disorders is the determination of the sex of the fetus. A new method for this purpose is based on recombinant DNA technology. The authors give a short account on their experiences with a Y specific DNA probe. Fetal DNA was prepared from chorionic villi taken at the 8th-12th weeks of gestation. The DNA was hybridised with the Y specific probe. This probe was isolated from the 3,4 kilobase human repeat sequence derived from heterochromatin of the Y chromosome and had 1000 times more affinity for male DNA than for female DNA. The method based on hybridisation with the Y specific probe should facilitate first-trimester prenatal sex determination of X-linked genetic disorders.

Abortion, Legal↗
PubMed1988

Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions.

Sepiapterin reductase activity has been measured in amniotic fibroblasts by two procedures: one photometric and the other HPLC-fluorimetric. Both can be used for quantitative measurements, but the latter has considerable advantages including smaller standard deviation, much lower detection limit, and less volume of sample required. Sepiapterin reductase activity was also assayed in skin fibroblasts, chorionic villi and various blood fractions including stimulated mononuclear blood cells. Red blood cells have a low specific activity compared to unstimulated mononuclear blood cells, although the latter have a mean value with a high standard deviation. When the mononuclear blood cells were cultured for 5 days, the mean specific activity increased and the range became tighter. Enzyme stability and N-acetylserotonin inhibition were also studied.

Alcohol Oxidoreductases↗
PubMed1986

Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi.

A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease was investigated using samples of chorionic villi obtained during the eighth week of pregnancy. Adenosine deaminase levels suggested that the fetus was a probable carrier and that a diagnosis of severe combined immunodeficiency disease could be excluded. Enzyme and chromosome results were available within 24 hours of the chorionic villous sampling procedure, and were confirmed on amniotic fluid cell cultures after amniocentesis at 17 weeks' gestation and on cord blood at delivery.

Adenosine Deaminase↗
PubMed1994

Insulinlike growth factors. Their regulation of glucose and amino acid transport in placental trophoblasts isolated from first-trimester chorionic villi.

The transport of glucose and amino acids from the maternal to fetal circulation through the placenta is critical to the delivery of fuel for normal fetal growth and development. Little information indicates that transplacental glucose or amino acid transport is influenced by hormones or polypeptide growth factors. We developed a continuous cell line of cytotrophoblastlike cells derived from first-trimester human chorionic villi as a model system to study the regulation of glucose and amino acid transport by insulinlike growth factors (IGFs). Using immunocytochemical and biochemical criteria, the cells were shown to manifest a trophoblastlike phenotype. The cells were maintained in serum-supplemented medium until confluent, at which time they were shifted to serum-free medium for one day. Experiments were initiated by transferring the cells to glucose-free assay buffer and incubating them with IGF-I, IGF-II or insulin. Glucose uptake was measured by the transport of 2-deoxy-D-[1,2-3H]glucose (2[3H]DG) in the presence or absence of cytochalasin B, which has been shown to competitively inhibit glucose uptake. IGF-I, IGF-II and insulin each enhanced 2[3H]DG transport in a dose-dependent fashion. Amino acid transport was measured by incubation of the cells with IGF-I for 60 minutes, followed by a 5-minute challenge with alpha-[methyl-3H]aminoisobutyric acid. IGF-I caused a dose-dependent increase in uptake of the amino acid analog. Radioreceptor assays using [125I]insulinlike growth factor I ([125I]IGF-I) demonstrated that the trophoblast-derived cells contained high-affinity, saturable receptors for IGF-I that also bound IGF-II.(ABSTRACT TRUNCATED AT 250 WORDS)

Amino Acids↗
PubMed2005

Bi-potential behaviour of cytotrophoblasts in first trimester chorionic villi.

Murine trophoblast stem (TS) cells express fibroblast growth factor receptor 2 (FGFR2) and are maintained in their proliferative state by fibroblast growth factor 4 (FGF4). We show in this report that in the first trimester human placenta FGFR2 expression is similarly found in a subset of villous cytotrophoblast and in proximal anchoring columns. Western analysis demonstrated declining FGFR2 protein expression as gestation advanced, suggesting a similar role for FGF in early human trophoblast proliferation. Mouse TS cell differentiation is known to occur along two distinct transcriptionally-regulated pathways; extravillous trophoblast (EVT) cells invade the uterine wall to promote maternal blood flow whilst syncytiotrophoblast lines chorionic villi in the labyrinth. Similar differentiation steps occur in the human placenta though the fate of human trophoblast stem cells is presently unknown. To investigate the mechanisms underlying human cytotrophoblast differentiation we have developed a novel cultured floating first trimester villous explant model in which denuded first trimester villi spontaneously regenerate syncytiotrophoblast following 48 h of culture. Addition of FGF4 and heparin inhibited syncytiotrophoblast regeneration in favor of forming clumps of cytotrophoblast. Proximal cells in these clumps were FGFR2 immuno-reactive and proliferative, intermediate parts expressed alpha5beta1-integrin, while the distal portion expressed HLA-G and the invasive integrin alpha1beta1 indicating differentiation to the EVT phenotype. In contrast, non-denuded villi exposed to FGF4 exhibited similar proliferation of the cytotrophoblast; however, these cells did not express any of the invasive EVT markers. We conclude that FGFR2-positive chorionic cytotrophoblasts exhibit bi-potential behaviour, being capable of forming either syncytiotrophoblast or EVT. We suggest bipotential trophoblast progenitor cells persist during first trimester human placental development.

Animals↗
PubMed2003

Effects of hypoxia on heme oxygenase expression in human chorionic villi explants and immortalized trophoblast cells.

Although hypoxia induces heme oxygenase (HO)-1 protein and mRNA expression in many cell types, hypoxia has also been shown to decrease HO-1 mRNA and protein expression. We tested the hypothesis that 24-h preexposure to hypoxia in human placental preparations suppresses HO protein expression and enzymatic function. Immortalized HTR-8/SVneo first-trimester trophoblast cells and explants of normal human chorionic villi (CV) from term placentas were cultured for 24 h in 1%, 5%, or 20% O(2). HO protein levels were determined by Western blot analysis, and microsomal HO activity was measured. HO-2 protein content was decreased by 17% and 5% in human trophoblast cells after 24-h exposure to 1% and 5% O(2), respectively, versus 20% O(2). In contrast, HO-2 protein content in CV explants was unaffected by changes in oxygenation. HO-1 protein content, which was barely detectable in both biological systems, was not affected by changes in oxygenation. Similarly, HO enzymatic activity was unchanged in both preparations after 24-h exposure to 1%, 5%, or 20% O(2). The above data do not support the hypothesis that hypoxia in the human placenta suppresses both HO protein content and HO protein function. The present observations reinforce the necessity to determine both HO protein expression and function.

Blotting, Western↗
PubMed1985

Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.

First-trimester prenatal diagnosis of Niemann-Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4-fold sphingomyelin storage had already taken place in the liver (2.5-fold in the spleen) of this 12-gestational week foetus.

Acetylglucosaminidase↗
PubMed1985

Debranching enzyme in fibroblasts, amniotic fluid cells and chorionic villi: pre- and postnatal diagnosis of glycogenosis type III.

Glycogenosis type III is characterized by a deficiency of debranching enzyme in most tissues, and it can be detected by the inability to liberate glucose from limit dextrin. However, using this assay, the deficiency is not expressed in cultured fibroblasts from patients with glycogenosis type III. We have demonstrated that the failure to detect debranching enzyme deficiency in fibroblasts is entirely due to interference of acid alpha-glucosidase, which can also hydrolyse limit dextrin. A method is described to remove specifically acid alpha-glucosidase allowing clear discrimination between fibroblasts from patients and controls, whereas heterozygotes showed intermediate values. The results with amniotic fluid cells and chorionic villi suggest the feasibility of first- and second-trimester prenatal diagnosis of glycogenosis III.

Amniotic Fluid↗
PubMed1999

Tissue expression of the S100 protein family-related MRP8 gene in human chorionic villi by in situ hybridization techniques.

The present study examined the tissue-expression of MRP8 in human placenta using a biotinylated DNA-probe for in situ hybridization. During the first and second trimesters high level and synchronous expression of MRP8 was detected in cytotrophoblasts (Langhans' cells), placental-tissue macrophages (Hofbauer cells), fibroblast-like cells, endothelial cells and monocytic lineages in the foetal capillaries. The highest expression was seen in large and oval-shaped cytotrophoblasts and stromal-cell populations at around 8-11 weeks. At term placentas had low level MRP8 expression chiefly in the myelomonocytic lineages in foetal blood vessels. The peripheral monocytes in the maternal space also expressed MRP8 at high levels during the first and second trimesters, which subsequently decreased at term. We suggest three hypotheses based on these results; (1) The initial expression of MRP8 may occur in two cell lineages of extra-embryonic and intra-embryonic origin in the first two trimesters; (2) the cytotrophoblasts, placental-tissue macrophages and fibroblasts may play important roles in the production of placental hormones and the immuno-regulation of foetal acceptance; and (3) MRP8-expression may be synchronously inhibited once the trophoblasts and stromal cell-constituents have differentiated in the chorionic villi.

Antigens, Differentiation↗
PubMed1984

Immunological studies of human placentae: complement components in pre-eclamptic chorionic villi.

Forty human placentae were studied by immunofluorescence for the presence of complement (C) components C1q, C4, C3d, C6 and C9 with the use of characterized antisera. The tissues were grouped as control placentae from 20 normal pregnancies and 20 from cases of pre-eclampsia (PE): the PE samples were sub-grouped as being obtained from patients with mild or severe PE. All of the C components studied were found in the same distribution for test and control samples, but statistical analysis of each pattern of distribution revealed that the deposition of C1q, C3d and C9 were increased in PE as compared to normal tissues. This impression was strengthened by the finding that the deposition of these C components was further increased when chorionic villus immunopathology was compared between mild and severe PE. These data indicate that immunological mechanisms are operating in PE chorionic villi, and they suggest that, among other mechanisms, immune processes may be operative in the pathophysiology of this clinical disease, and that more studies along these lines are in order to rule either in or out this possibility.

Adolescent↗
PubMed1985

Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.

The tritiated disulphated trisaccharide 6-sulpho-N-acetylgalactosamine-glucuronic acid-6-sulpho-N-acetyl-[1-3H]galactosaminitol was prepared from chondroitin 6-sulphate for use as a substrate for N-acetylgalactosamine 6-sulphate sulphatase. The reaction product was separated on ECTEOLA cellulose rather than Dowex 1 X 2. The mean activities of normal fibroblasts, leukocytes and amniotic cells were 8.43, 2.59 and 3.14 nmol h-1 mg protein-1, respectively. Fibroblasts from five patients with classical Morquio's disease (mucopolysaccharidosis IVA; MPSIVA) and one patient with neonatal multiple sulphatase deficiency displayed activities of less than 5% of control mean. Activity in amniotic cells from a pregnancy where the fetus was affected with MPS IVA was 6% of control mean. Activity was also found to be present in normal specimens of chorionic villi (mean value 1.21 nmol h-1 mg protein-1), demonstrating the feasibility of first trimester prenatal diagnosis of MPS IVA by assay of activity in this tissue.

Amniotic Fluid↗