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PubMedDate not supplied

Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.

Abortion, Induced↗

PubMed1980

[An immunohistochemical study of HCG and HPL on functional differentiation of human chorionic villi (author's transl)].

The enzyme-labeled antibody method was used to examine the localized distribution and variation by gestation week of HCG and HPL in placenta of 44 cases. 1) HCG: Electron microscopy revealed HRP reaction products in cisterna and membrane of perinuclear spaces and endoplasmic reticulum of syncytial cell (S-cell), but not in surface of S-cell microvilli or in Langhans' cell (L-cell). HRP reaction products in S-cell were more appreciable during 5th-12th weeks of gestation in syncytial sprouts, junction of villi with decidua, and rami or ramuli chorii, and fewer after 12th weeks. 2) HPL: Electron microscopy revealed reaction products in nuclear membrane and membrane of endoplasmic reticulum and Golgi complex, but not in surface of S-cell microvilli or L-cell. Reaction products in S-cell were noted from 8th gestation week, and most appreciably in 16th-18th gestation weeks preceding peak HPL concentration in serum. This indicates HPL exists in S-cell in the from of Pre. Pro-HPL.

Chorionic Gonadotropin↗

PubMed1981

The expression of major histocompatibility antigens by human chorionic villi.

Frozen sections of human placentae taken at selected stages throughout gestation were stained with monoclonal antibodies to HLA-A, B, C and DR antigens, using an indirect immunoperoxidase technique. No staining of villous trophoblastic tissue was detected. Antibody to HLA-A, B, and C antigens clearly stained membranous elements of the villous stroma. Antibody to HLA-DR antigens stained rare, elongated cells of the villous stroma in the term placenta. Monoclonal antibodies to syncytiotrophoblast membrane were used as a control. This antigen distribution was confirmed by absorption of these monoclonal antibodies in an indirect radioimmunoassay. Adult spleen homogenate gave much stronger absorption than a trophoblast membrane preparation with antibodies to HLA-A, B, C or DR antigens. The opposite absorption pattern was observed with the anti-trophoblast monoclonal antibodies. Detergent solubilisation did not affect the absorption capacity of trophoblast membrane for HLA-A, B, C or DR antigens. Maternal antibody could be eluted from trophoblastic areas of term placental sections by washing at physiological pH, but this did not effect the binding of monoclonal antibodies. Thus the HLA antigens were not masked by preformed maternal alloantibody. These observations confirm that chorionic villous trophoblast does not express detectable HLA antigen. This may be the principal reason for the lack of rejection of the fetal allograft.

Absorption↗

PubMed2000

Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.

Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which usually present as vacuolization of placental cells. We describe a rare case of recurrent hydrops that was detected by placental examination. Through light microscopy, electron microscope (EM) studies and beta-glucocerebrosidase activity the disease was identified as Gaucher's disease.

Adult↗

PubMed1981

Morphogenesis of human placental chorionic villi: cytoskeletal, syncytioskeletal and extracellular matrix proteins.

Immunocytochemical and ultrastructural methods were used to investigate the distribution of a family of structural proteins in the human placenta near term. These reveal the distribution of cytoskeletal and 'syncytioskeletal' components that may account for some of the more obvious micromorphological features of placental structure. In the syncytiotrophoblast a potentially supporting structure 'the syncytioskeletal layer' is described. It is an apparently continuous and complex polymeric network covering the villous tree, a surface of the order of 10 m2 in area in the full term placenta (Aherne & Dunnill 1966). It is suggested that this layer plays a part in morphogenesis of the villous tree.

Chorionic Villi↗

PubMedDate not supplied

Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture.

Second trimester ultrasound-guided fetal blood sampling and placental biopsy were performed on 10 pregnancies at risk for fra(X)-linked mental retardation (Martin-Bell syndrome). Three cases were diagnosed as affected after cytogenetic analysis of fetal blood and placental cultures. The fra(X)(q27.3) and common fragile sites were shown to be expressed at a lower level in placenta than in fetal blood. Induction methods included methotrexate, 5-fluoro-2-deoxyuridine, and excess thymidine. Excess thymidine may give the best expression of fra(X)(q27.3). Enhancement of fra(X)(q27.3) expression was not shown with caffeine or 5-methoxybenzamide.

Chorionic Villi Sampling↗

PubMedDate not supplied

[Chromosomal mosaicism after diagnostic chorionic villi biopsy. Subsequent study of the placenta].

Among 311 diagnostic chromosomal analyses after CVS eleven results (mostly chromosomal mosaicism) did not fit completely with the chromosomal sets found in the fetuses and newborns. In all cases chromosomal mosaicism was restricted to the placenta only. All children born after the diagnosis of a chromosomal mosaicism in the placenta were normal. In six cases the investigation of the placenta after termination of pregnancy or birth was possible. In all those cases the mosaicism could be found within the placenta, however, in some cases in a very low percentage. Although occurrence of chromosomal mosaicism in the placenta can hinder chromosomal diagnosis after CVS, the advantages of the method are not neutralized.

Abortion, Eugenic↗

PubMedDate not supplied

[Localization of protease inhibitors in the chorionic villi of the human placenta, by means of the immunoperoxidase technic].

Alpha-1-antitrypsin and alpha-1-antichymotrypsin have been studied in human placentas, from the first trimester to term pregnancy, by immunohistochemical method. Both proteinase inhibitors were localized to the cytoplasm of the villous syncytiotrophoblast, with a decreasing intensity of staining towards term pregnancy. The Hofbauer cells were intensely positive for intracellular alpha-1-antitrypsin and alpha-1-antichymotrypsin at all gestational ages. According to data of the literature we suggest that the existence of the proteinase inhibitors in the placental barrier possibly represents an important part in the defence mechanism of the placenta and may play a particular role in modifying the maternal immune response towards the foetus.

Chorionic Villi↗

PubMed1985

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling.

Two pregnancies at risk for Fanconi's anemia have been monitored by a cytogenetic method in the first trimester of gestation. The rate of chromosome breakage was evaluated in spontaneous mitoses from a direct preparation of trophoblasts in one case and from mitoses obtained from standard cultures and from mitoses treated with diepoxybutane in both cases. Cytogenetic studies were carried out also at 16 weeks from amniotic fluid cells in one case, and in fibroblasts sampled from the aborted fetus in the other. In all the experimental conditions the mean frequency of breaks/cell was in the range of controls, suggesting that the fetuses were unaffected by Fanconi's anemia. In one case the results have been confirmed by chromosome analysis at birth.

Adult↗

PubMed1990

Efficiency of modified medium for direct chromosome preparation of the chorionic villi.

The direct chromosome preparation from the CV is a reliable method for diagnosis of the gross chromosomal anomalies and could be completed in the shortest possible time. However, direct villi preparation does not always provide sufficient or good quality metaphases. The culture medium plays an important role in achieving a good success rate. We report the efficacy of our modified medium and compared it with Chang's. The modified medium showed slightly higher successful karyotyping (68.4%) than the Chang medium (65.4%). This success rate showed no statistically significant difference. The success rate enhanced up to 92.3 per cent using our modified medium when the CV was of good quality. The higher amount of CV did not lead to a higher success rate. Any amount more than 5 mg of the CV was sufficient for direct chromosome preparation.

Chorionic Villi Sampling↗

PubMed1994

Chorionic villi sampling: laboratory experience with 4,000 consecutive cases.

Experience with 4,000 consecutive CVS cases shows that 1) the combination of both the direct and culture methods greatly reduces false diagnoses and maternal cell contamination; 2) the time interval between the sampling procedure and processing of villus specimens influences the quality of direct preparations; 3) maternal cell contamination (MCC) can be minimized with dissection of CVS specimens. We have compiled a large volume of confined placental mosaicism (CPM) cases to serve as a resource in interpreting mosaic cytogenetic findings. It was noted that, in up to 92% of the mosaic cases, the abnormal cell line was confined to the placenta. The frequency of true chromosomal mosaicism was 0.2%, and is not different from that for amniocentesis.

Cells, Cultured↗

PubMed1991

Kinetic and immunologic evidence for the absence of glucose-6-phosphatase in early human chorionic villi and term placenta.

The existence of the enzyme glucose-6-phosphatase (G6Pase) in early and term human placenta was investigated by comparing the characteristics of placental microsomal glucose 6-phosphate (G6P) hydrolytic activity and liver G6Pase. Placental microsomes exhibited similar apparent Km values for G6P and beta-glycerophosphate in intact and deoxycholate-treated microsomes, heat stability at acidic pH, low latency of mannose 6-phosphate hydrolysis, very low activity of pyrophosphate: glucose phosphotransferase, and undetectable [U-14C]G6P transport into the placental microsomes, all of which indicated that specific G6Pase activity does not exist in placenta. Immunological evidence of the absence of both 36.5 kDa and T2 proteins, which represent the G6Pase catalytic protein and the phosphate/pyrophosphate transporter protein, respectively, confirmed that early and term human placenta are devoid of the multicomponent G6Pase enzyme.

Animals↗

PubMed1993

[Attitude of patients to chorionic villi biopsy: motivation for the decision and perception].

56 patients with CVS were asked with a standardized questionnaire why they decided to undergo that surgical procedure and how they felt about it. 52 patients said, that their main motivation for CVS was the early diagnosis of a healthy baby. The low health risk of an early performed abruption in case of fetal abnormalities played a secondary role. Concerning the severity of that surgical procedure 44 patients thought, that it was harmless or tolerable and no woman had the feeling that CVS is a fearful intervention. 76% said, that CVS was not painful or only a little bit, 2 patients had the feeling of a painful surgical procedure. The most disagreeable moment during CVS was the hooking of the cervix. There were different opinions comparing CVS stress to amniocentesis stress in patients with a preceding amniocentesis.

Abortion, Eugenic↗

PubMed1989

Prenatal diagnosis of homozygous alpha 0-thalassaemia by direct DNA analysis of chorionic villi in Singapore.

First-trimester prenatal diagnosis by DNA analysis was carried out for seven pregnancies at risk for homozygous alpha 0-thalassaemia. Transabdominal placental biopsy was carried out at 10-12 weeks' gestation. The presence of alpha-globin genes in the fetal DNA was determined by restriction endonuclease mapping and hybridization with cloned alpha-globin probe. Homozygous alpha 0-thalassaemia was detected in two fetuses and the pregnancies were interrupted. Alpha 0-thalassaemia in both cases was confirmed by electrophoresis of the umbilical cord blood where only haemoglobin Bart's was detected. The remaining five fetuses were diagnosed as normal or as possessing alpha-thalassaemia-1 trait and the pregnancies are being carried to term. The use of DNA analysis in prenatal diagnosis of fetuses at risk for homozygous alpha 0-thalassaemia enables detection of the haemoglobinopathy at 10 weeks' gestation.

Chorionic Villi↗

PubMed1978

Immunological studies of human placentae: identification and distribution of proteins in immature chorionic villi.

Cryostat sections of normal human first-trimester placentae have been studied by indirect immunofluorescence to localize numerous protein antigens to well-defined anatomical regions. Transferrin was identified in the apical aspect of all trophoblasts. Fibrinogen/fibrin was also clearly demonstrated in speckled pattern in this location and similar reactions were also observed for alpha-2-macroglobulin, IgG and C3. Plasminogen was identifiable in trophoblasts, and beta-2-microglobulin was uniformly absent from these cells. Collagen and fibrinogen/fibrin were demonstrated on trophoblastic basement membrane, whereas IgG and C3 were only very rarely identified at this site. Few antisera gave strong staining of first-trimester villous stroma, although collagen was shown to contribute much of the stromal matrix. Fibrinogen/fibrin, plasminogen, alpha-2-macroglobulin, C4, C3, C1q, IgG and caeruloplasmin gave positive reactions in fibrin and fibrinoid areas, and phytohaemagglutinin was demonstrated to bind strongly to these areas as well as to trophoblastic basement membrane.

Basement Membrane↗

PubMed1986

Mitochondria in living cells cultured from human chorionic villi: the effects of colchicine on numbers and distribution.

Fluorescence microscopy of living first trimester human placental cells and choriocarcinoma cells in cultures was carried out using the vital fluorescent dye Rhodamine 123. The length and distribution of mitochondria and, in the normal cells, their reaction to colchicine treatment is described. It appears that in the presence of colchicine the distribution of mitochondria in normal placental cells becomes more restricted to the perinuclear cytoplasm and that the mean length of mitochondria is reduced. However, the total length of all the mitochondria in treated cells is not significantly different from that in paired cells which were not exposed to the drug. It is inferred from this result that mitochondrial shortening in the presence of colchicine is not an elastic shortening consequent on the removal of cytoskeletal elements which promote extension of the organelle. Rather it is brought about by fragmentation of the organelle into tandem segments.

Cell Line↗

PubMed1993

Stereomicroscopic demonstration of chorionic villi: differentiation between miscarriage and ectopic pregnancy.

OBJECTIVE: To evaluate direct peroperative stereomicroscopic examination of endometrial curettings in the differentiation between miscarriage and ectopic pregnancy. DESIGN: A prospective consecutive controlled study. SETTING: Odense University Hospital, Odense, Denmark. SUBJECTS: One hundred and fifty-nine women with vaginal bleeding and/or abdominal pain in early pregnancy and no fetus seen on ultrasound. MAIN OUTCOME MEASURES: The results of stereomicroscopy were compared with the histological diagnoses. RESULTS: There was 90% (95% CI, 84-94%) agreement between the stereomicroscopic and histological examinations. Fifteen per cent had an ectopic pregnancy. The sensitivity of stereomicroscopy as a marker of ectopic pregnancy was 92% (73-99%), the specificity 94% (88-97%). The predictive value of a positive test was 73% (54-88%) and that of a negative test 98% (94-100%). CONCLUSION: Direct peroperative stereomicroscopy of endometrial curettings is a valuable diagnostic tool for immediate differentiation between miscarriage and ectopic pregnancy.

Abdominal Pain↗

PubMed1980

Immunological studies of human placentae: complement components in immature and mature chorionic villi.

The localization and distribution of complement components in term and pre-term normal human placentae have been studied by using haemadsorption and immunofluorescence experiments. The components Clq, C4, C5, C6 and C9 were identified in characteristic locations. Receptors for C3 and C4 were not found. Complement was associated with certain stromal cells, areas of fibrinoid necrosis within the trophoblastic mantle, and in the walls and endothelia of foetal stem vessels. Activation of the complement system on trophoblastic basement membranes (TBM) did not appear to involve the early reacting components of the classical pathway of complement activation, because C1q, C4 and C2 could not be identified on TBM. The C6 component was identified within cytoplasmic granules of foetal stem vessel endothelia, suggesting that it may be synthesized by these cells. These findings put forward the possibility that complement may play an immunobiological role in the materno-foetal relationship during normal human pregnancy.

Basement Membrane↗