Trisomy 8 in chorionic villi-unpredictable results in follow-up.
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Adult↗
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Results for “Chorionic Villi”
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[Effects of human papillomavirus infection on pregnant women and chorionic trophoblasts].
OBJECTIVE: To evaluate the effects of human papilloma virus (HPV) infection on pregnant women and chorionic trophoblasts. METHODS: The morphological characters were observed from 62 pregnant women with codyloma acuminatum during the first and second trimester. In situ hybridization (ISH) was performed to detect HPV 6/11 in chorionic villi of all these cases. In 10 cases, ISH was also performed in condyloma acuminatum of vulva, vaginal and cervix. In 10 cases HPV 6/11 was detected by polymerase chain reaction (PCR) in chorionic villi as well. RESULTS: The lesions condyloma acuminatum developed rapidly during pregnancy. Multiple lesions were found usually, and the gross appearances and histological features were more typical. Using ISH and PCR to detect HPV 6/11-DNA in chorionic villi all showed negative. 8 of 10 cases were positive in condyloma acuminatum sites by ISH. CONCLUSIONS: HPV infection does not make vertical transmission during first and second trimester. It does not increase the potential risk for the fetus.
Adult↗
Expression patterns of pituitary adenylate cyclase activating polypeptide and its type I receptor mRNAs in the rat placenta.
Pituitary adenylate cyclase activating polypeptide (PACAP) was first isolated from ovine hypothalamus and is known to act as a tropic factor in various cells. Recent report revealed the expression of PACAP and the PACAP type I (PAC(1)) receptor in human and rat placentas at term. Placenta is a critical organ that synthesizes several growth and angiogenic factors for its own growth as well as fetal development. However, there is little information regarding the expression pattern and cellular localization of PACAP and PAC(1) during pregnancy. The aim of this study was to define the expression and distribution of PACAP and PAC(1) receptor mRNAs in the rat placenta during pregnancy. PACAP and PAC(1) receptor mRNAs were expressed in decidual cells, chorionic vessels, and stromal cells of the chorionic villi. Interestingly, the expression of these genes varied with the day of gestation. For example, PACAP and PAC(1) receptor mRNAs expressed in decidual cells on day 13.5 and 15.5, their expression was strong in chorionic vessels and stromal cells of the chorionic villi within the labyrinth zone on day 17.5, 19.5, and 21.5. In fact, as gestation advanced, the expression of PACAP and PAC(1) receptor mRNAs in the decidua cells disappeared, as their high expression became evident in the chorionic vessels and stromal cells of the chorionic villi. Our finding that PACAP and the PAC(1) receptor are co-localized and their genes seemingly co-regulated within specific placental areas, strongly suggest that this peptide may play an important role, as an autoregulator or pararegulator via its PAC(1) receptor, in physiological functioning of the placenta for gestational maintenance.
Animals↗
Complete hydatidiform mole in twin pregnancy: differentiation from partial mole with interphase cytogenetic and DNA cytometric analyses on paraffin embedded tissues.
Six cases of hydatidiform mole associated with normal chorionic villi and a normal embryo/fetus (in five cases) were investigated with interphase cytogenetic and DNA cytometric analyses for diagnostic purposes. DNA probes specific for the pericentromeric regions of chromosomes 1 and X and for the long arm of chromosome Y were used. In four cases a dizygotic twin pregnancy could be proven. In these cases, the histologically normal chorionic villi showed an XY DNA-diploid pattern, consistent with a normal male conceptus, and the molar chorionic villi a XX pattern. In the other two cases an identical sex chromosomal pattern was found in the normal and in the molar villi (XX/XX and XY/XY respectively). In all six cases the molar placental tissues showed prominent trophoblastic hyperplasia with DNA-polyploidy, consistent with a complete hydatidiform mole. In two cases persistent gestational trophoblastic disease developed. It is emphasized that twin pregnancies composed of a normal conceptus and a complete mole have a relatively high risk for the development of persistent trophoblastic disease and therefore, should be carefully differentiated from triploid partial moles with a relatively low risk of persistent gestational trophoblastic disease. These case reports indicate that additional interphase cytogenetic and DNA cytometric analyses are useful in this differential diagnosis.
Adult↗
Oxygen and placental development during the first trimester: implications for the pathophysiology of pre-eclampsia.
During early pregnancy, placentation occurs in a relatively hypoxic environment which is essential for appropriate embryonic development. Intervillous blood flow increases at around 10-12 weeks of gestation and results in exposure of the trophoblast to increased oxygen tension (PO2). Prior to this time, low oxygen appears to prevent trophoblast differentiation towards an invasive phenotype. In other mammalian systems, oxygen tension effects are mediated by hypoxia inducible factor-1 (HIF-1). We found that the ontogeny of HIF-1alpha subunit expression during the first trimester of gestation parallels that of transforming growth factor-beta3 (TGFbeta3), an inhibitor of early trophoblast differentiation. Expression of both molecules is high in early pregnancy and falls at around 10 weeks of gestation when placental PO2 levels are believed to increase. Antisense-induced inhibition of HIF-1alpha inhibited the expression of TGFbeta3, and stimulated extravillous trophoblast (EVT) outgrowth and invasion. Of clinical significance we found that TGFbeta3 expression was increased in pre-eclamptic placentae when compared to age-matched controls. Significantly, inhibition of TGFbeta3 by antisense oligonucleotides or antibodies restored the invasive capability to the trophoblast cells in pre-eclamptic explants. We speculate that if oxygen tension fails to increase, or trophoblasts do not detect this increase, HIF-1alpha and TGFbeta3 expression remain high, resulting in shallow trophoblast invasion and predisposing the pregnancy to pre-eclampsia. Effective fetal-maternal interactions during early placentation are critical for a successful pregnancy. Optimal placental perfusion requires the controlled invasion of trophoblast cells deep into the decidua to the spiral arteries. Trophoblast stem cells, also referred to as cytotrophoblast cells, reside in chorionic villi of two types, floating and anchoring villi. Floating villi, which represent the vast majority of chorionic villi, are bathed in maternal blood and primarily perform gas and nutrient exchange for the developing embryo. During early placentation, cytotrophoblast cells in the floating villi proliferate and differentiate by fusing to form the multinucleate syncytiotrophoblast layer. Cytotrophoblast cells in anchoring villi either fuse to form the syncytiotrophoblast layer, or break through the syncytium at selected sites and form multilayered columns of non-polarized extravillous trophoblast cells, which physically connect the embryo to the uterine wall (Figure 1). The extravillous trophoblast cells invade into the uterine wall as far as the first third of the myometrium and its associated spiral arteries, where they disrupt the endothelium and the smooth muscle layer and replace the vascular wall. This results in the conversion of the narrow calibre arteries into distended uteroplacental arteries, thereby increasing blood flow to the placenta and allowing an adequate supply of oxygen and nutrients to the growing fetus. The invasive activity of the extravillous trophoblast cells is at a maximum during the first trimester of gestation, peaking at around 10-12 weeks and declining thereafter. Insufficient invasion contributes to the development of pre-eclampsia, which often results in fetal intrauterine growth restriction, maternal hypertension and proteinuria. In contrast, unrestricted invasion is associated with premalignant conditions, such as invasive mole, and with malignant choriocarcinoma. Invading trophoblast cells undergo striking and rapid changes in cellular functions that are temporally and spatially regulated along the invasive pathway (Figure 1) (Cross, Werb and Fisher, 1994. The formation of the anchoring villi is accompanied by changes in synthesis and degradation of extracellular matrix proteins and their receptors, and changes in the spatial distribution of extracellular matrix proteins, as well as changes in the expression of adhesion molecules (Damsky, Fitzgerald and
DNA-Binding Proteins↗
Pathogenesis of placentitis in the goat inoculated with Brucella abortus. II. Ultrastructural studies.
Pregnant goats were inoculated intravenously or in uterine arteries with Brucella abortus, and tissues from the uterus and placenta were examined by electron microscopy. Identification of B. abortus in placentae was with antibody-coated colloidal gold. B. abortus was first seen in phagosomes of erythrophagocytic trophoblasts and in the rough endoplasmic reticulum of chorioallantoic trophoblasts. Subsequently, trophoblast necrosis and ulceration of chorioallantoic membranes were present. Coincidently, B. abortus was present in the lumen of placental capillaries. In late stages of infection, placental vasculitis was present, and placentomal trophoblasts were separated from maternal syncytial epithelium. In lesions with vasculitis, large numbers of B. abortus were in connective tissue of chorionic villi. Within the placentome, trophoblasts that lined chorionic villi contained no intracellular bacteria and were separated from B. abortus by intact basement membranes. These results suggest that bacteremic B. abortus is endocytosed by erythrophagocytic trophoblasts and that B. abortus replicates in the rough endoplasmic reticulum of chorioallantoic trophoblasts. Replication of brucellae in trophoblastic rough endoplasmic reticulum is unique; we believe that B. abortus may utilize endoplasmic reticulum for synthesis and glycosylation of bacterial membrane proteins or that B. abortus catabolizes trophoblast secretory proteins.
Abortion, Veterinary↗
Immunohistology of clotting factor V in human extraembryonic membranes.
Blood clotting Factor V was studied on fixed and unfixed cryostat sections of term human placentae, basal plates, amniochorions, and first-trimester placentae by using one- and two-colour immunofluorescence. A monoclonal antibody (GB36) which reacts with cytotrophoblast was used to identify cytotrophoblast. Factor V was identified in villous cytotrophoblast of term chorionic villi and very weakly or not at all in first-trimester chorionic villi. Other extra-embryonic tissues were non-reactive with anti-Factor V. These data show that Factor V is a useful marker of term villous cytotrophoblast. Immunopathological consequences of this are considered.
Amnion↗
[Antigenicity of trophoblast cells and their significance for placentation and tolerance of human allogenic ova ].
Due to the elucidation of transplantation phenomena of the human allogenic egg, as yet unknown, the antigenicity of each trophoblastic cells was estimated using a cell culture technique introducing the immunofluorescence method. It was studied by means of an immunological model like the fetomaternal incompatibility in the classic AB0-blood system. The in vitro cultured placenta cells (epithelials cells of the chorionic villi, the Langhanscells, the Hofbauercells and also their's daughter cells) were investigated concerning the presence of A- and B-bloodgroup antigens, whereas the direct and indirect immunofluorescence method was introduced. It was confirmed that the chorionic villi epithelial cells are always antigen-less ones. The Langhanscells possess the A- and B-transplantation antigens within their nuclei membranes only. But in Hofbauercells the presence of the antigens could be found within the cell membrane, within the nuclei membrane and also the cytoplasma of the daughter cells. The lack of transplantation antigens in the epithelial layer of the chorionic villi enable as well the placentation and further development of the human allogenic egg.
ABO Blood-Group System↗
Pre- and postnatal findings in trisomy 17 mosaicism.
Trisomy 17 mosaicism is one of the rarest autosomal trisomies in humans. Thus far, only 23 cases have been described, most of them detected prenatally. In only five instances has mosaicism been demonstrated in lymphocytes and/or fibroblasts postnatally, and only in these have multiple congenital anomalies (MCA), facial dysmorphisms, and mental retardation been reported. Patients with trisomy 17 mosaicism at amniocentesis and a normal karyotype in blood and fibroblasts (n = 17) were always healthy. Here, we report on pre- and postnatal clinical, cytogenetic, molecular-cytogenetic, and molecular findings in four patients with trisomy 17 mosaicism. The first case was detected in cultured but not in short-term chorionic villi and amniocytes. Due to MCA on prenatal ultrasound examination the pregnancy was terminated. The second patient is a 13-month-old healthy boy, in whom low level trisomy 17 mosaicism was detected in cultured chorionic villi only. The third patient is a 2-year-old girl with growth retardation, developmental delay, MCA, and trisomy 17 mosaicism in amniocytes, fibroblasts, and placenta, but not in blood and buccal smear. The fourth patient is a 9-year-old boy with growth and mental retardation, sensoneurinal hearing loss, and MCA. Cytogenetic analyses showed trisomy 17 mosaicism in amniocytes, skin fibroblasts, and urinary sediment cells, whereas in blood and buccal smear a 46,XY karyotype was found. Molecular investigations in all four cases indicated biparental inheritance of chromosome 17. Formation of trisomy was most likely due to a maternal meiosis I error in Patient 1 and a postzygotic non-disjunction of the paternal chromosome 17 in Patient 4. Cerebellar malformations, reported in two cases from the literature and in two reported here may be a specific feature of trisomy 17 mosaicism. Since the aberration has rarely been reported in lymphocytes, chordocentesis is not indicated in prenatal diagnosis. Prenatal genetic counseling for trisomy 17 mosaicism in chorionic villi or amniocytes should consider that the clinical significance remains uncertain.
Adult↗
Ontogeny and distribution of Fc gamma receptors in the human placenta. Transport or immune surveillance?
The human fetus acquires maternal IgG via the chorioallantoic placenta. Utilising antibodies against 3 characterised subtypes of IgG receptor (Fc gamma R) expressed by human leucocytes, we show by confocal immunofluorescence microscopy that these molecules are also expressed by cells of the placenta. Fc gamma RI (CD64) is expressed by undifferentiated mesenchymal or fibroblast cells of 1st trimester and term chorionic villi. Punctate immunoreactivity for Fc gamma RII (CDw32) is found on capillary endothelial cells of term and 1st trimester villi. Fc gamma RIII (CD16) expression is observed in the trophoblast surrounding chorionic villi that forms the functional 'barrier' between mother and fetus. In 1st trimester villi this receptor is associated with a population of marginated vesicular inclusions of the syncytiotrophoblast. In term villi the receptor is concentrated in the apex of the syncytiotrophoblast, suggesting a possible role in the maternofetal transmission of passive immunity. All 3 subtypes of receptor are expressed by Hofbauer cells. We have been unable to demonstrate these receptors in cytotrophoblast cells. Results obtained using immunofluorescence and immunoelectron microscopic detection of endogenous IgG are consistent with the hypothesis that IgG is internalised into clathrin-coated pits and vesicles. Endogenous IgG was not demonstrable in cytotrophoblast cells. The significance of our inability to demonstrate IgG or specific receptor molecules for IgG in cytotrophoblast cells, and possible roles of Fc gamma receptor-bearing cells of the placenta are discussed.
Chorionic Villi↗
[The significance of alpha-fetoprotein-negativity in the interstitial area of total hydatidiform mole tissue].
UNLABELLED: The presence of the fetal component is an important factor in explaining the mechanism of the occurrence of the hydatidiform mole. But we have not confirmed in which phase the fertilized becomes a fetus. Therefore the mechanism of the occurrence of hydatidiform mole was investigated, using alpha-fetoprotein (AFP) produced in the fetal liver and the yolk sac, as a parameter. Total hydatidiform moles, partial hydatidiform moles, chorionic villi obtained from normal pregnancy artificially terminated and spontaneous abortion, and also the fetal liver, umbilical cord, and intestine were examined. Paraffin sections of these materials were examined for the presence of AFP by a peroxidase-anti-peroxidase method. RESULTS: In the fetal liver, the gelatinous area of the umbilical cord the lamina propria mucosae of the intestine, and the AFP were stained positive. In the interstitial area of the chorionic villi of normal pregnancy, the AFP was positive (78.3% n = 23). But in the villous epithelium, the AFP was negative. In the interstitial area of the chorionic villi of spontaneous abortion, the AFP was positive (88.9% n = 9). But in the villous epithelium, the AFP was negative. In the interstitial area of the partial hydatidiform mole, the AFP was positive (100% n = 6). In the epithelial area, the AFP was negative. No localization of the AFP was found in either the interstitial area or the epithelial area of the cyst of total hydatidiform mole (100% n = 7). We concluded that the AFP exuded to tissues derived from mesoblast by feto-chorionic circulation.(ABSTRACT TRUNCATED AT 250 WORDS)
Female↗
First trimester diagnosis of adenosine deaminase deficiency.
Adenosine deaminase deficiency has been detected in the first trimester by direct analysis of enzyme activity in chorionic villi in a pregnancy at risk. Data for purine nucleoside phosphorylase activity in chorionic villi from healthy controls in the first trimester are also presented and should allow equally rapid diagnosis of this disorder.
Adenosine Deaminase↗
Fetal heart rate in early pregnancy and chromosomal disorders.
OBJECTIVE: To investigate normal fetal heart rate in early pregnancy and assess the hypothesis that abnormal fetal heart rate is associated with fetal chromosomal abnormalities. DESIGN: Prospective descriptive cross-sectional study. SETTING: Antenatal clinic associated to the University Clinic of Obstetrics, University Hospital Groningen, The Netherlands. SUBJECTS: 424 pregnant women who attended for prenatal counselling. INTERVENTIONS: Measurements of fetal heart rate from 6-16 weeks gestation, cross-sectional study. MAIN OUTCOME MEASURES: Fetal heart rate expressed as beats/min. RESULTS: Karyotyping showed a normal chromosomal pattern in 414 fetuses. The median fetal heart rate increased from 138 beats/min at 6 weeks to 177 beats/min at 9 weeks, thereafter, fetal heart rate gradually decreased to 150 beats/min at 16 weeks. Karyotyping showed 10 abnormalities: five trisomies 21, three trisomies 18, and two mosaic patterns in chorionic villi. Fetal heart rate of the trisomic fetuses was distributed around the median with that of all Down's syndrome fetuses within the normal range. In one fetus with trisomy 18, the heart rate exceeded the 90th centile, in another it fell under the 10th centile. The two fetuses with a mosaic pattern in chorionic villi had heart rates outside the normal range. CONCLUSION: Fetal heart rate in chromosomally abnormal fetuses in early pregnancy do not appear to be consistently different from that in normal fetuses. The use of a single measurement of fetal heart rate is not valuable for screening purposes. Chromosomal mosaicism in chorionic villi may be associated with abnormal fetal heart rate.
Chromosome Aberrations↗
[Preliminary study on prenatal diagnosis from coelomic cells using polymerase chain reaction].
OBJECTIVE: To evaluate the number of cells in coelomic fluid by DNA quantitation with picogreen and to establish a new method of prenatal diagnosis for sex-linked disorders in early pregnancy. METHODS: Coelomic fluid and chorionic villi were obtained from 25 women undergoing planned termination of pregnancy. DNA of coelomic fluid was extracted by boiling method and DNA concentration was measured with picogreen, and fetal gender was determined by X and Y-sequence-specific PCR. The results of PCR were compared with traditional cytogenetic analysis of chorionic villi. RESULTS: There were 750-6270 cells in 0.5-3 ml coelomic fluid. Two amplified bands of X and Y were identified simultaneously in the coelomic fluid of male-fetus. Only one band was detected in that of female-fetus. Eleven out of 25 coelomic fluids showed X and Y bands, and the others were one band (X). The overall concordance rate of gender determination between coelomic fluid and chorionic villi was 100%. CONCLUSION: The number of cells in 0.5-3 ml coelomic fluid can completely meet the needs of PCR reactions. Sex determination using cells in coelomic fluid and PCR is reliable, which can be used as a prenatal diagnostic test for sex-linked disorders and has the advantages of high sensitivity and rapidity.
Body Fluids↗
Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis.
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52-95M1 (locus D16S148) and pCJ52-94T1 (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.
Child↗
Immunohistological demonstration of intermediate trophoblast in the diagnosis of uterine versus ectopic pregnancy: a retrospective survey and results of a prospective trial.
Immunohistological demonstration of human placental lactogen (hPL) in non-villous, mononuclear intermediate trophoblastic cells may be of routine diagnostic value, when chorionic villi are absent in endometrial curettings from patients suspected of miscarriage of an intrauterine pregnancy. The histological presence and distribution of hPL was investigated in endometrial curettings from 90 patients studied retrospectively (47 had ectopic pregnancies, 14 miscarriages, and 29 legal abortions), and a consecutive, prospective series of 50 patients (40 had miscarriages and 10 had ectopic pregnancies) without chorionic villi in their endometrial curettings. Non-specific background staining was not a problem. The retrospective survey disclosed that hPL was a highly sensitive marker of intrauterine pregnancy (sensitivity = 0.98). In the prospective series, the predictive value of positive staining for hPL for intrauterine pregnancy was 1.00, and the sensitivity of hPL, as an indicator of uterine gestation, was 0.62. In absence of specific hPL-staining, the risk of ectopic pregnancy was about 50%. The immunohistochemical demonstration of hPL is a useful tool for identifying patients who are suspected of having had a miscarriage, but for whom evidence in the form of chorionic villi in endometrial curettings is lacking.
Abortion, Spontaneous↗
Prenatal diagnosis of thalassemia in the Chinese.
There is a high prevalence of thalassemia in the Taiwan area. Prenatal diagnosis of severe forms of thalassemia is important for the prevention of this disease. We performed prenatal diagnosis in 167 cases, of which 59 cases were diagnosed by chorionic villi biopsy, 91 cases by amniotic fluid analysis, and 17 cases by cord blood analysis. Hb Bart's hydrops was detected by amplifying the break junction area of the alpha-thalassemia-1 Southeast Asia (SEA)-type gene, and beta-thalassemia major was detected by using naturally occurring restriction sites and the amplified created restriction sites (ACRS) method. Screening for hemoglobin (Hb) Bart's hydrops revealed 26 cases of Hb Bart's hydrops, 67 cases of alpha-thalassemia-1 (including 6 Hb Bart's hydrops falsely diagnosed as alpha-thalassemia-1 from chorionic villi samples), and 38 normal cases. Screening for beta-thalassemia major revealed 8 cases of beta-thalassemia major, 17 cases of beta-thalassemia minor, and 11 normal cases. In cases of alpha-thalassemia, maternal tissue contamination in the chorionic villi samples occurred in the diagnosis of the carrier state and further amniotic fluid analysis will be necessary. There were no any false-positive or false-negative results in beta-thalassemia major screening. We conclude that prenatal diagnosis is a reliable and accurate screening method for thalassemia and may be valuable in other areas of high prevalence for thalassemia in Southeast Asia and in Southern China.
Gene Frequency↗
[Lysosomal enzyme activity of cultured fetal cells in Chinese and its clinical application].
Lysosomal storage diseases (LSD) are caused by deficient activity of specific lysosomal enzymes. Early diagnosis and selective termination is still the trend of therapy. The purpose of this study was to establish an assay system and investigate the reference range of lysosomal enzyme activity of cultured fetal cells in the Chinese population. Seventy amniotic fluid and 9 chorionic villi samples were collected and cultured in this study. Enzyme activity assay was done by synthesized 4-Mu-binded substrates. The activity was expressed as nmol/mg protein/hour. In cultured amniotic cells, the results showed 14-138 of alpha-glucosidase, 8-133 of alpha-galactosidase, 32-470 of alpha-mannosidase, 101-1121 of alpha-fucosidase, 106-1321 of beta-galactosidase, 15-268 of beta-glucosidase, 11-279 of beta-glucuronidase, 101-1193 of Hexosaminidase A, and 886-6204 of N-acetyl-alpha-glucosaminidase. In cultured chorionic villi samples, it showed 22-335 of alpha-glucosidase, 31-230 of alpha-galactosidase, 47-250 of alpha-mannosidase, 35-218 of alpha-fucosidase, 49-934 of beta-galactosidase, 34-329, of beta-glucosidase, 57-379 of beta-glucuronidase, and 328-3412 of Hexosaminidase A. The enzyme activity was not correlated with the gestation age when sample was obtained. Furthermore, there was no statistical significance among the range of amniotic cells, chorionic villi samples, skin fibroblasts and peripheral leukocytes for each enzyme studied. It is suggested that the synthesis of lysosomal enzymes has been mature since the early fetal state, and the samples obtained as early as 8 weeks of gestation age can be used for early diagnosis of lysosomal storage diseases.
Cells, Cultured↗