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PubMed1990

An ultrastructural study of early chorionic villus formation in the marmoset monkey (Callithrix jacchus).

The ultrastructural morphology of developing chorionic villi in the marmoset monkey (Callithrix jacchus) placenta was studied in pregnant monkeys at known time intervals after ovulation. In samples obtained at 45 days after ovulation the mesoderm, which consists of primitive foetal blood vessels, is seen to extend down into cytotrophoblast columns. Syncytiotrophoblast completely surrounds maternal blood vessels and both basal laminae and endothelial cells of maternal origin show signs of disorganisation and degradation. Syncytiotrophoblast is first observed to breach the maternal circulation in samples collected from animals at 60 days after ovulation; this results in discrete haemochorial villi randomly distributed throughout the placental bed. Samples obtained at 80 days after ovulation and term placental samples (145 days after ovulation) exhibit tertiary haemochorial villi throughout the placenta, similar to those seen randomly distributed at 60 days after ovulation.

Animals↗
PubMed1991

Routine autoradiographic analysis of DNA excision-repair. Report of prenatal and postnatal diagnosis in eleven families.

DNA excision-repair of UV induced damages was investigated by unscheduled DNA synthesis and quantitative autoradiography. The method has been routinely used on lymphocytes for postnatal diagnosis of xeroderma pigmentosum and PIBIDS syndrome. Ten XP-families including 13 clinical XP patients and 9 XP-risk children, and one family with one clinical PIBIDS case and one PIBIDS-risk child were screened. Each of the 14 affected patients were biologically ascertained with a significant excision-repair defect. Among the 9 XP-risk children without clinical manifestations, the DNA excision-repair was defected in 4 cases considered as biological XP, and normal in 5 cases considered as biologically normal subjects. Likewise the PIBIDS-risk child exhibited a normal excision-repair. According to the age of the XP or PIBIDS-risk children, and the delay of appearance of clinical manifestations, the method should not present neither false positive nor false negative results and allows the infraclinical diagnosis. The protocol was extended for prenatal diagnosis on amniocytes and fetal cord blood. Excision-repair analysis on normal cultivated chorionic villi cells has been performed allowing a further first trimester prenatal diagnosis.

Amniotic Fluid↗
PubMed2001

Differential expression of Bcl-2 proto-oncogene in the trophoblast from embryos with Down's syndrome and those after spontaneous abortion.

Down's syndrome (trisomy 21) was the first human chromosomal syndrome to be recognized (in 1959 by Lejeune and colleagues). It is also the most frequent chromosomal aberration occurring in one out of 700 live newborns. In the present study we investigated the immunohistochemical expression of the apoptosis-suppressing protein Bcl-2 in placental trophoblastic cells from embryos with Down's syndrome (gestational age 12th, 15th and 22nd week) and correlated the findings with equivalent trophoblastic cells from embryos after spontaneous abortion. In our cases with Down's syndrome a weak Bcl-2 expression was noted in the cytotrophoblast and syncytiotrophoblast of chorionic villi in contrast to strong Bcl-2 staining of the same cells in the cases of spontaneous abortions (p < 0.0001). Although there are no specific findings that truly characterize a placenta with trisomy, obtaining a small piece of chorionic villus tissue (chorionic villus biopsy) and immunohistochemical control for Bcl-2 protein could be an additional prenatal examination available to the perinatologist to detect chromosomal abnormalities.

Abortion, Spontaneous↗
PubMed1999

Clinical implications of atypical chromosome abnormalities diagnosed prenatally.

OBJECTIVE: To determine the frequency of atypical aneuploidy resulting from prenatal testing and assess the implications of these diagnoses on prenatal decision making. METHODS: We reviewed all amniotic fluid and chorionic villus samples obtained between January 1994 and September 1997 and grouped the abnormal cases into typical or atypical subcategories. This distinction was based upon whether the diagnosis provided a straightforward range of prognoses or an ambiguous clinical implication. Results were stratified by sample source to determine whether atypical aneuploidy was more commonly seen in cultures of chorionic villi or amniocytes. We also evaluated the influence of ultrasound findings on prenatal decision making in atypical aneuploid cases. RESULTS: Of 2960 samples, 134 were abnormal (4.4%), with 27 of 134 abnormalities (20%) representing atypical aneuploidies. The percentages of chorionic villus and amniocentesis cases complicated by atypical aneuploidy (22% and 78%, respectively) were consistent with the distribution of procedures in the entire study. Ultrasound abnormalities did not invariably prompt a decision to terminate pregnancy (only two terminations of six fetuses with congenital malformation), whereas atypical karyotypes led to termination even in the presence of normal-appearing fetal anatomy (five terminations of 21 without malformations; P = .63). CONCLUSION: The frequency of atypical aneuploidy resulting from prenatal diagnosis was approximately 1.0%, and these cases represented 20% of all abnormal karyotypes observed. The ambiguity conferred by atypical aneuploidy can influence a family's decision making, even in the presence of normal ultrasound findings.

Adult↗
PubMed1991

Primary pregnancy in the liver. A case report.

A case of intra-hepatic pregnancy is reported. The patient was 32 years old and presented with an acute intra-abdominal hemorrhage. At surgery a spongy 3 x 2 x 1.5 cm mass was removed from the right liver lobe. Microscopically, well developed chorionic villi appeared invading the liver tissue. The patient had a relatively uneventful recovery.

Adult↗
PubMedDate not supplied

Assessment of transcervical chorion villus aspiration biopsy in early pregnancy.

BACKGROUND: Chorionic villus sampling for prenatal diagnosis is a relatively new technique and variable success rates have been reported by different authors depending on the methods and instruments used. We describe our experience with chorionic villus sampling in Bombay. METHODS: The procedure was attempted on 62 women before termination of their pregnancy via the transcervical route, under constant real-time ultrasound guidance. A metallic cannula was negotiated through the cervix into the uterine cavity to reach the chorionic frondosum and chorionic villi were aspirated by creating a negative pressure in the syringe attached to the cannula. The villus tissue was checked under a dissecting microscope. We calculated the success rate for obtaining a sample depending on the site of the chorionic frondosum, the physique of the mother, the position of the uterus and the size of the cannula. RESULTS: Villus tissue was aspirated in 47 of the 62 cases. The success rates of sampling at the first and second attempts were 48% and 27% respectively. The factors which were associated with a higher success rate were when the chorionic frondosum was situated posteriorly rather than anteriorly (61% v. 48%; p < 0.01), when the patient was thin rather than fat (58% v. 25%; p < 0.001), when the uterus was anteverted rather than retroverted (53% v. 41%). The commonest complication was bleeding which occurred in 15% of patients. CONCLUSION: Transcervical chorionic villus sampling is associated with a high success rate except in fat women with a retroverted uterus and in those with the chorionic frondosum situated in the fundus.

Abortion, Induced↗
PubMed1990

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

Chorionic Villi Sampling↗
PubMed1991

Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up.

Chorionic villus sampling (CVS), performed on a woman in the 23rd menstrual week because of bilateral fetal hydronephrosis and suspected intrauterine growth retardation (IUGR), documented trisomy 9 in all cells examined. Chromosomes of amniocytes and fetal blood lymphocytes were normal. The ongoing pregnancy was monitored closely, and at 37 weeks, a phenotypic normal male infant was delivered. Multiple placental biopsies showed 47,XY,+9, while a repeat chromosome analysis of the infant and biopsies from the amniotic membrane were normal (46,XY). This case further emphasizes the association between placental aneuploidy and IUGR. To our knowledge, nonmosaic trisomy 9 in CVS confined to the chorionic villi and later confirmed in the placenta has not been reported previously.

Amnion↗
PubMed1989

Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.

105 patients with Menkes disease have been diagnosed from 64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of 64Cu from the medium for 16 Menkes patients. Second-trimester prenatal diagnosis has been performed in 80 pregnancies with male karyotype. These 64Cu-uptake results show some overlap between the upper end of the normal range and the lower end of the Menkes range. Results are presented to show that a combination of 64Cu-uptake and chase results offers a better diagnostic potential than 64Cu-uptake per se. Chorionic villus copper values from 53 first-trimester prenatal diagnoses are presented. Maternal deciduum from some of these pregnancies contain similar high amounts of copper as found in the chorionic villus samples from affected fetuses. 64Cu-uptake in cultured chorionic villi from affected fetuses and unaffected fetuses is not discriminatory. Chase results seem however to offer a better diagnostic potential.

Brain Diseases, Metabolic↗
PubMed2005

A comparison of prenatal versus postnatal karyotyping for the investigation of intrauterine fetal death after the first trimester of pregnancy.

INTRODUCTION: Aneuploidy is an important cause of intrauterine fetal death (IUFD) after the first trimester. Determination of the fetal karyotype of these pregnancies is commonly done in most units from solid tissues. Results from such techniques are disappointing. The aim of this audit was to compare the results of karyotyping IUFD by invasive testing (amniocentesis or chorionic villus sampling) and solid tissues (skin biopsy). SUBJECTS AND METHODS: Women with IUFD managed in our unit between 1 January 1998 and 31 December 2002 (inclusive) were offered either invasive testing before medical induction of labour or solid tissue biopsy after delivery. The amniotic fluid, chorionic villi and biopsies were processed following standard laboratory procedures. RESULTS: During the 60 months, 230 samples from cases of IUFD were received by the laboratory in our unit; 126 had skin biopsies and 104 underwent invasive testing (81 amniocenteses and 23 chorionic villus sampling). Successful karyotyping was possible in 90% of those who underwent amniocentesis, 100% of those who had chorionic villus sampling and 13.5% of those who had skin biopsies. 50% of skin biopsies were unsuitable for analysis compared to none in the CVS and amniocentesis group. The difference in successful karyotyping between invasive testing and solid tissue testing was statistically significant (P < 0.0001). There were 12 (10.6%) abnormal karyotypes from the 113 successful samples (11/96 in the invasive group versus 1/17 in the solid tissue group). CONCLUSION: Invasive testing has a much higher success rate of karyotyping in cases of IUFD and should, therefore, be offered to women presenting with this complication irrespective of gestational age.

Amniocentesis↗
PubMed1996

Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).

Glycogen storage disease type 1a (GSD 1a), a severe metabolic disorder, is caused by the absence of glucose-6-phosphatase (G6Pase) activity. Diagnosis is currently established by demonstrating the lack of G6Pase activity in the patient's liver specimen. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as G6Pase is active only in the liver, kidney, and intestinal mucosa. Recent cloning of the G6Pase gene and subsequent identification of the mutations causing GSD 1a have led to the possibility of performing DNA-based diagnosis in chorionic villus samples (CVS) or amniocytes. Here we report the first DNA-based prenatal diagnosis in two families in whom GSD 1a patients were diagnosed. In one Jewish family with a previously identified R83C mutation, single-stranded conformation polymorphism (SSCP) analysis of the DNA extracted from CVS showed a homozygous R83C mutant pattern. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. In another family of Arabic extraction in which a V166G mutation has been identified in one of the siblings, SSCP analysis performed on DNA extracted from CVS presented the pattern of a normal control. The pregnancy was carried to term and a healthy baby was born. Thus, once mutations causing the disease are identified, prenatal diagnosis of GSD 1a is possible. SSCP analysis of DNA prepared from CVS is reliable, simple and fast, making it a suitable method for prenatal diagnosis.

Chorionic Villi Sampling↗
PubMed2000

Placental expression of syndecan 1 is diminished in preeclampsia.

OBJECTIVE: Syndecan 1 is a cell surface heparan sulfate proteoglycan that binds growth factors and antithrombin III. The objective of this study was to examine whether placental expression of syndecan 1 in preeclampsia differs from that in normal pregnancy and whether gestational age and fetal growth affect syndecan 1 expression. STUDY DESIGN: An immunohistochemical analysis of 30 placentas of women with severe preeclampsia and 15 placentas of women without preeclampsia was performed with the monoclonal anti-syndecan 1 antibody B-B4. RESULTS: In 47% of preeclamptic placentas the immunoreactivity with antibody B-B4 was faint or absent, whereas 93% of the normal placentas exhibited strong immunoreactivity. The reduction in placental expression of syndecan 1 in preeclampsia was not associated with gestational age or impaired fetal growth. CONCLUSION: The expression of syndecan 1 on the chorionic villi is reduced in preeclampsia irrespective of gestational age or fetal growth.

Antibodies, Monoclonal↗
PubMed1986

First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.

Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid alpha-glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid alpha-glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7-13 weeks, 1-15% of the total alpha-glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling. A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenatal diagnosis.

Adult↗
PubMed1988

Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis.

Five term placentae from pregnancies at risk of infantile neuronal ceroid-lipofuscinosis (INCL) were studied electron-microscopically to determine if diagnostic cytoplasmic inclusions could be detected in this tissue. In 4 placentae no inclusions were found, and the infants born from these pregnancies have developed normally, the shortest observation time being 15 months. In the fifth placenta numerous cytosomes pathognomonic of INCL were found in the amniotic cells and the endothelium of the capillaries of the chorionic villi. The diagnostic significance of this finding was confirmed by the presence of typical inclusions in the autonomic ganglion cells and other cells in a rectal mucosal biopsy specimen of this male infant at the age of 3 months. Electron microscopic study of chorionic villus biopsy specimens appears to be a promising possibility for prenatal diagnosis of INCL.

Chorionic Villi↗
PubMed2005

Vasculogenesis in complete and partial hydatidiform mole pregnancies studied with CD34 immunohistochemistry.

BACKGROUND: Defective chorionic villous vascularization is present in pregnancies complicated by absent or abnormal embryonic development. The aim of this study was to investigate the embryonic and/or maternal genomic influence on vasculogenesis in diploid complete hydatidiform mole (CHM) and in triploid partial hydatidiform mole (PHM) in comparison with normal development. METHODS: Mean villous stromal area and functional vascular area, vessels with a lumen and haemangiogenetic cords, peripherally or centrally located were measured and counted in chorionic villi of 12 CHM, 12 normal pregnancies (termination of pregnancy, TOP) and 15 PHM of which nine were without an embryo (PHM-E) and six were with an embryo (PHM + E), using quantitative CD34 immunohistochemistry. RESULTS: TOP showed significantly more vessels per chorionic villus, centrally and peripherally located (median, range), than CHM, PHM-E and PHM + E (4.0, 0-9 versus 0.0, 0-11, 0.0, 0-18 and 1.0, 0-21). CHM showed significantly more centrally located cords than PHM-E, PHM + E and TOP (1.5, 0-22 versus 1.0, 0-15, 0.5, 0-8 and 1.0, 0-2). CONCLUSIONS: Initiation of chorionic villous vasculogenesis is independent of the maternal genome (CHM). The development of an embryo, however, is obligatory for the modulation of normal vascularization resulting in a well developed vasculosyncytial membrane.

Adult↗
PubMed1977

Viral placentitis - a case report.

A case of viral placentitis, in a 20 year-old pregnant woman suffering from chronic glomerulonephritis, was presented. In light microscopic findings of the placenta, many necrotic foci with intranuclear inclusion - bearing cells revealed in chorionic villi and by electron microscopy numerous immature and mature virus particles, probably herpes simplex were proved in intranuclear inclusion-bearing cells.

Adult↗
PubMed2006

Tumour necrosis factor-alpha stimulates HIV-1 replication in single-cycle infection of human term placental villi fragments in a time, viral dose and envelope dependent manner.

BACKGROUND: The placenta plays an important role in the control of in utero HIV-1 mother-to-child transmission (MTCT). Proinflammatory cytokines in the placental environment are particularly implicated in this control. We thus investigated the effect of TNF-alpha on HIV-1 expression in human placental tissues in vitro. RESULTS: Human placental chorionic villi fragments were infected with varying doses of luciferase reporter HIV-1 pseudotypes with the R5, X4-Env or the vesicular stomatitis virus protein G (VSV-G). Histocultures were then performed in the presence or absence of recombinant human TNF-alpha. Luciferase activity was measured at different time points in cell lysates or on whole fragments using ex vivo imaging systems.A significant increase in viral expression was detected in placental fragments infected with 0.2 ng of p24 antigen/fragment (P = 0.002) of VSV-G pseudotyped HIV-1 in the presence of TNF-alpha seen after 120 hours of culture. A time independent significant increase of viral expression by TNF-alpha was observed with higher doses of VSV-G pseudotyped HIV-1. When placental fragments were infected with R5-Env pseudotyped HIV-1, a low level of HIV expression at 168 hours of culture was detected for 3 of the 5 placentas tested, with no statistically significant enhancement by TNF-alpha. Infection with X4-Env pseudotyped HIV-1 did not lead to any detectable luciferase activity at any time point in the absence or in the presence of TNF-alpha. CONCLUSION: TNF-alpha in the placental environment increases HIV-1 expression and could facilitate MTCT of HIV-1, particularly in an inflammatory context.

Chorionic Villi↗