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PubMed1996

[Fluorescence in situ hybridization in prenatal diagnosis. First experiences].

The authors examined the potential use of non-radioactive in situ hybridization in prenatal screening. Probes for chromosomes 18, 13/21, 21 and X were applied on fourteen samples of peripheral lymphocytes and nine samples of chorionic villi. The aim of the study was to compare the analyzability of the two different DNA probes for chromosome 21 on six samples of chorionic villi. Six of the nine samples of chorionic villi were hybridized with probes specific for chromosome 21 and all six cases were diagnosed properly. However, we need more data to establish a screening protocol for routine prenatal cytogenetics.

Chromosomes, Human, Pair 13↗
PubMed1989

Chorionic villus sampling after first trimester diagnosis of fetal cystic hygroma colli.

Diagnostic findings of four cases of cystic hygroma discovered at 11 weeks of gestation are reported. The discovery of cystic hygroma by echotomography was followed by sample taking of chorionic villi which revealed one case of monosomy X and three cases of trisomy 18. Caryotype determination in the presence of cystic hydroma is essential for diagnostic confirmation and subsequent genetic counselling.

Adult↗
PubMed2000

Four years' cytogenetic experience with the culture of chorionic villi.

In 1958 chorionic villus samples, investigated by culture method, we found 137 (7%) abnormalities. The abnormal results were classified in certain abnormal (generalised abnormal at high probability) and uncertain abnormal (potentially confined to the placenta) results. Certain abnormal were 73 cases (3.7%). Uncertain abnormal were 64 cases (3.3%), in which confirmation studies were done in 47 cases. In 12 cases of these 47, the abnormality was confirmed and in 35 cases (1.8%) the abnormality was confined to the placenta. Among the latter cases, poor pregnancy outcome [16% intrauterine death (IUD), 6% intrauterine growth retardation (IUGR)] was increased. Total maternal cell contamination was not seen. The positive predictive value of all confirmed abnormal cases was 66%. The positive predictive value was 100% for indications 'ultrasound abnormalities' and 'carrier' and between 50 and 60% for all other indications. Predictive value among uncertain abnormal cases was low (26%). However, the positive predictive value depends of the type of abnormality. Therefore we conclude that the culture method for chorionic villi is a good test for indications 'ultrasound abnormalities' and 'carrier' and reliable for all other indications. Whether or not follow-up investigations should be offered to the parents depends of the type of abnormality. We conclude that the culture method is reliable for prenatal diagnosis and can be used as the sole investigative method.

Chorionic Villi Sampling↗
PubMed1991

Prenatal diagnosis of Duchenne muscular dystrophy by restriction fragment length polymorphism analysis with pERT 87 intragenomic deoxyribonucleic acid probes.

Prenatal diagnosis of DMD was performed with three intragenic genomic probes and chorionic villus sampling. A total of 8 unrelated families with at least one DMD were analysed. DNA was extracted from peripheral white blood cells for carrier testings (50 individuals). For prenatal detection, it was extracted from chorionic villi obtained by chorionic villus sampling at 9 menstrual weeks. DNA was digested with an appropriate restriction enzyme followed by overnight electrophoresis in 1% agarose gels. DNA was transferred from the gel to nylon membrane according to the protocol of an alkaline transfer method. The pERT 87 probes were labeled by nick translation. The membranes were hybridized overnight after prehybridization. After washing, the membranes were exposed to X-ray films to make autoradiograms for restriction fragment length polymorphism analysis. Fetal sex was determined by a rapid screening test with a Y chromosome-specific repeat sequence. Out of 8 fetuses, 4 were males and 4 were females. All of 4 male fetuses were determined to be unaffected. Out of 4 female fetuses, 3 were diagnosed as non-carriers, and the carrier status of the remaining one was not able to be determined because her mother was not informative for all testings.

Chorionic Villi Sampling↗
PubMed1993

Immunophenotyping of mitotic cells from long-term cultures of chorionic villi.

Chromosomal mosaicism in chorionic villus samples (CVS) may arise from different sources, such as clonal diversity within the chorionic tissue or contamination with maternal cells. To determine the origin of karyotyped cells, we compared the immunocytochemical features of mitotic cells in CVS long-term cultures with histological sections of their tissue of origin, i.e. chorionic villi. Immunolabelling of intermediate filaments specific for epithelial cells (cytokeratin) and mesenchymal cells (vimentin) established that mitoses yielded from CVS long-term cultures indeed stem from independently growing clones derived from both the epithelial and mesenchymal parts of the chorionic villi. Thus, mosaicism in CVS cultures may reflect true genetic heterogeneity within the biopsy. However, epithelial chorionic cells undergo in vitro metaplasia leading to co-expression of cytokeratins and vimentin. Fetal-specific immune markers (beta-HCG and SP1-glycoprotein) are not reliably expressed in CVS cell culture.

Chorionic Gonadotropin↗
PubMed1990

Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report.

We report on a 32-year-old G3P2 woman at increased risk of argininosuccinic aciduria in her offspring. In her first infant, the disease was diagnosed at age 3 months. In the second pregnancy, the disorder was excluded following incorporation of radio-labeled 14C-citrulline in intact chorionic villi obtained through transcervical chorionic villus sampling at 10 weeks gestation. Twins were diagnosed in the third pregnancy. Separate transabdominal chorionic villus sampling of both fetuses was carried out at 10 weeks gestation. Chromosome analysis demonstrated a normal male and female karyotype. Incorporation of radio-labeled 14C-citrulline in intact villi was deficient in both villus samples, establishing the diagnosis of argininosuccinic aciduria in both fetuses. The present results confirm the reliability of direct analysis of villi for the diagnosis of argininosuccinic aciduria.

Adult↗
PubMed2000

Histomorphological features of chorionic villi at 10-14 weeks of gestation in trisomic and chromosomally normal pregnancies.

This study examines histomorphometric features in chorionic villi obtained by chorionic villus sampling (CVS) at 11-14 weeks of gestation from 124 ongoing pregnancies (38 with trisomy 21, 14 with trisomy 18, 11 with trisomy 13 and 61 chromosomally normal controls). In the trisomy 21 group there was an inverse relationship between fetal nuchal translucency thickness (NT) and villus diameter and number of capillaries per villus cross-section. In about half of the cases there was perivillous fibrinoid present, and the amount of this increased with gestation. Compared to the chromosomally normal group, in trisomy 18 the villus diameter was smaller and the number of capillaries per villus cross-section was reduced. In the trisomy 21 group, villi had an increased percentage of two layered trophoblast present and an increased proportion of villus capillaries with nucleated red blood cells present. In all three trisomies, but particularly in trisomies 18 and 13, both the amount of basophilic stippling of the basement membrane and the proportion of cases with stippling was increased. These results provide data on the possible mechanisms of increased fetal NT and on abnormal placental development in fetal trisomies.

Chorionic Villi↗
PubMed1988

Prenatal diagnosis of thalassemia: experiences at the Shanghai Children's Hospital.

Using DNA dot-blot hybridization, restriction endonuclease gene mapping with oligonucleotide probes, restriction fragment length polymorphism linkage analysis, and hybridization, prenatal diagnosis was performed for 32 pregnancies at risk for alpha-thalassemia and for 10 pregnancies at risk for beta-thalassemia. The DNA samples were prepared from chorion villi or amniotic fluid cells.

Amnion↗
PubMed1990

Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience.

Chorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorder or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal approach. The sampling success rate was 97 per cent (122/125). The mean maternal age of the patients was 31 years (range 17-44) and the mean gestational age at which the chorionic villus sampling was performed was 10 weeks (range 7-13 weeks). Seventy-four of these diagnoses involved the use of DNA markers. The minimal size of the sample used for DNA diagnosis was 5 mg. Maternal contamination was detected in two samples. A diagnosis was provided on all but two samples. The fetal loss rate was high initially but fell to 1.9 per cent in 1988.

Adolescent↗
PubMed1999

Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens.

Since 1983, prenatal diagnosis of Menkes disease has been carried out by determining Cu in samples of chorionic villi from the fetus by means of radiochemical neutron activation analysis. Concentrations of Cu in chorionic villi from male fetuses later confirmed to have Menkes disease were invariably higher than previously reported values for normal controls. Out of 240 samples analyzed in the period 1983-1998, there were 71 from female fetuses that could be carriers of the Menkes genetic defect without suffering from the disease. Increased concentrations of Cu in these samples could not be attributed to the presence of this genetic defect, but might result from sporadic contamination of the samples before analysis. Such contamination also may occur in samples from male fetuses and thus raise the level of Cu in small, but normal specimens into the range characteristic of Menkes disease. In spite of a strict protocol for taking samples without contamination, a total of four false positives were reported during the period of investigation; no false negatives have occurred.

Chorionic Villi Sampling↗
PubMed1990

[Determination of paternity using DNA analysis of chorionic villi].

Using probes recognizing hypervariable regions in human DNA high precision paternity testing can be provided even in the first trimester of pregnancy. Paternity tests were performed in 14 families using DNA isolated from chorionic villi. The results indicate that by a single probe confirmation or exclusion of paternity from a DNA sample of chorionic villi the 1st trimester of pregnancy can be performed with a probability more than 99.99%.

Blotting, Southern↗
PubMed1991

[Bacteriologic findings before and in transcervical chorionic villi biopsy and their clinical relevance].

Between August 1987 and May 1989, bacteriological examinations of smears from the cervical canal was performed in 358 pregnant women, who underwent transcervical sampling of chorionic villi. The outcome of 349 of these pregnancies is documented. 12 of these patients (3.5%) had an artificial abortion for genetic reasons. In 12 other patients, the pregnancy ended before 28 weeks (one child surviving). Microbiological examinations showed that in 187 women (52%), it was possible to culture one or more microorganisms from the cervical canal. The most frequently detected pathogen was Chlamydia trachomatis (111 women, 31%). In pregnancies, where more than one microorganism could be cultured, the risk of following abortion was 8.9 times higher than in those, where no pathogens could be found. In only two of the 12 women with a subsequent spontaneous abortion (16.6%), no microorganism could be found. The bacterial contamination of the cervical canal during TC-CVS seems to be a risk factor for subsequent abortion. Therefore, a bacteriological examination of cervical flora should be performed before as well as during TC-CVS, and antibiotic therapy should be initiated in case of positive results.

Abortion, Septic↗
PubMed1991

[Cytogenic anomalies and placental function].

Over the past few years growing knowledge of placental cytogenetics has led to the surprising observation that the chromosomal constitution of the placenta is not always identical to that of its fetus. This information comes primarily from three sources: analyses of chorionic villi obtained by choriocentesis (chorionic villus sampling); studies of abortions, particularly spontaneous ones; and analyses of extrafetal tissues performed following dubious prenatal diagnoses, or to investigate fetal pathologies such as intrauterine growth retardation. Our personal data and those reviewed in this article allow the conclusion that chromosomal aberrations, particularly in the mosaic state, are frequent in the placenta, and that at least some of these have less severe consequences when present in extrafetal tissues than when present in the fetus itself. The types of chromosomal errors observed differ according to the method of ascertainment, in spontaneous abortions for example as compared to pregnancies developing as far as the third trimester. The presence of a partially aneuploid placenta may be compatible with a continuing pregnancy, but be associated with problems such as inadequate fetal growth.

Abortion, Spontaneous↗
PubMed2000

Instruments for transcervical chorionic villus sampling for prenatal diagnosis.

BACKGROUND: The type of instrument used in chorion villus sampling could have a significant impact on the success rate of the procedure. An ability to manoeuvre the instrument within the uterine cavity without puncturing the gestational sac, and to see the tip of the instrument on ultrasound scanning are particularly important. OBJECTIVES: The objective of this review was to assess the effects of different instruments for transcervical chorionic villus sampling on perinatal outcome, quality and quantity of obtained tissue, technical difficulties during the procedure and maternal adverse effects. SEARCH STRATEGY: The Cochrane Pregnancy and Childbirth Group trials register was searched. Date of last search: October 1998. SELECTION CRITERIA: Randomised trials comparing different instruments for transcervical chorionic villus sampling. DATA COLLECTION AND ANALYSIS: Eligibility and trial quality were assessed by one reviewer. MAIN RESULTS: Three trials involving 268 women were included. None of the trials mentioned method of randomisation. An adequate sample was more likely to be obtained using small forceps than aspiration cannula (odds ratio 7.29, 95% confidence interval 3. 39 to 15.67). However small forceps were more difficult to insert than an aspiration cannula (odds ratio 0.35, 95% confidence interval 0.13 to 0.96). Use of the Portex cannula was more likely to result in an inadequate sample and a difficult or painful procedure when compared with either the silver or aluminium cannula respectively. REVIEWER'S CONCLUSIONS: Although there is some evidence to support the use of small forceps for transcervical chorionic villus sampling, it is not strong enough to support change in practice for clinicians who have become familiar with aspiration cannulas.

Chorionic Villi Sampling↗