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Chorionic villus biopsy specimens were studied electron microscopically in six pregnancies at risk of the infantile type of neuronal ceroid lipofuscinosis (INCL). The biopsy was performed in all cases in the first trimester of pregnancy (8-10 gestation weeks) by the transcervical route. In one case, the biopsy was repeated at 17 weeks by the transabdominal procedure. In two pregnancies, the endothelial cells and, to a lesser extent, the mesenchymal cells of the chorionic villi contained unit membrane-bound inclusions typical of INCL. In both cases, the pregnancy was terminated and in one of them identical inclusions were found in the brains and kidneys of the fetus at 20 weeks of gestational age. The children from the remaining four pregnancies are healthy and have shown no signs of the disease.
Chorionic villi chromosome analysis was performed on 1,186 cases of induced abortion between the 5th and 11th week of gestation. The total incidence of major chromosome abnormalities, including numerical and structural chromosomal changes as well as mosaics and polyploids, was 4.5% (53 cases). The most common abnormalities were trisomy 21 (5 cases), trisomy 16 (4 cases), and monosomy X (4 cases). The incidence of chromosome abnormalities increased with the advancing age of the mother.
Human chorionic villi and choriomembrane proteins were analyzed by two-dimensional electrophoresis. The samples were obtained during the first trimester of pregnancy and were solubilized in buffer containing Triton X-100 and CHAPS. High molecular weight proteins with Mr above 200 KDa and proteins with basic pI were found to be better resolved in this buffer system that in solution containing Triton X-100 only. Nearly 200 protein spots could be visualized on the silver stained gels.
Analysis of the results of prenatal cytogenetic diagnosis carried out in the first and second pregnancy trimesters in more than 300 women permitted comparing the efficacies of two methodologic approaches, diagnostic amniocentesis and chorion sampling , with due consideration for the methodologic errors typical of these methods and of the tested biologic material. Up to 5% of the diagnoses are erroneous if the diagnosis is based on chorion sampling data, whereas in amniocentesis the share of diagnostic errors is lower by an order. The authors have given a theoretical rationale for and tried a methodologic approach, involving the employment of the 'direct' chromosomal preparations from villous chorion biopsy specimens and the so-called 'maintained' cell culture technique, that permits obtaining chromosomal preparations of higher quality and, consequently, helps improve the accuracy of chromosomal diagnosis.
Chorionic villus sampling (CVS) is now currently offered for first trimester prenatal diagnosis of genetic disorders. Chromosome analysis of CVS in direct and culture preparations is possible using modifications of standard banding techniques. We summarize our experience in applying QFQ, GTG, RBG, CBG, DA/DAPI, NOR, and SC differentiation protocols to direct preparations. Characteristic chromosome regions are properly labelled by these techniques, and analysis of 300 band stage karyotypes is consistently achievable on GTG banded direct preparations. However, banding of CVS direct chromosomes has proved to be difficult, and the analysis needs to be backed up by culture preparations.
Chorionic villus sampling (CVS) has a promising future about early detection of fetal abnormalities. It has the potential to become a major tool in the prenatal diagnosis and therapy of genetic disorders. Villus samples can be analyzed by means of cytogenetic, biochemical or molecular technics. Information available at present indicates fetal loss rate should be in the same proportion than amniocentesis. CVS appears to be a reasonably safe and reliable method of prenatal diagnosis in the first trimester of pregnancy. This procedure is setting as fast as it is possible like an excellent alternative to amniocentesis.
This report documents the first 262 cases of chorionic villus sampling (CVS) performed in parallel with cytogenetic and morphological investigations. Histomorphological examination of these CVS specimens gave suitable results in about 96% (251 cases). Of the latter, 201 samples (80.1%) exhibited villi and 176 (70.1%), maternal tissue. Viability and maturation of the chorionic villi were determined light microscopically even in cases with few villus trees. Smooth avascular villi with poorly defined margins observed under an inverted microscope, less than 10 mitoses after short-term incubation, and reduced growth of cell cultures were significantly correlated with sampling at the chorion laeve by means of histomorphologic criteria. Villi from cases exhibiting cytogenetically proved chromosomal abnormalities were characterized by molar degeneration or stromal fibrosis, or both, in 4 out of 9 cases, including 3 mosaics. In early abortions (within 3 weeks after CVS), an unexpectedly high rate of pathohistological changes within maternal tissue was evident. These results need further confirmation by investigation of a greater number of samples with immunohistochemical and morphometric methods.
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Chorion villi biopsy is a recently introduced method for first trimester prenatal diagnosis. Based on 435 cases of chorionic villi biopsies, obtained during a 3 year period, we report our experiences with the technique of chorionic villi sampling, chromosomal analysis from trophoblast tissue and possibly associated complications, such as spontaneous abortions, vaginal bleeding, and chromosomal mosaicism. The rate of spontaneous abortions in our group of patients was 3%. This appears low, considering the high overall spontaneous abortion rate in early pregnancy of women over 35 years. The cytogenetic diagnosis is complicated by a high rate (2.8%) of chromosomal mosaicism, which were found to be not representative for the fetus, but required control amniocentesis. From our experiences with this method we conclude that chorion villi biopsy can be offered as a reliable alternative method to amniocentesis in the hands of an experienced team of obstetric surgeons and cytogenetists.
While chorionic villus sampling allows both early and rapid prenatal diagnosis of chromosome disorders, the accuracy of this technique has not been fully established. Maternal cell contamination and pseudomosaicism represent two major sources of diagnostic error. Combined use of both direct chromosome preparations and villus cultures is important in overcoming these problems. Direct preparations of villus tissue allow recognition of maternal cell contamination of villus cultures. Conversely, villus cultures yield higher resolution chromosomes and may be helpful in differentiating between true versus pseudomosaicism when two or more cell lines are identified in direct chromosome preparations. Preliminary data suggest that analysis of direct preparations from multiple individually processed villus fragments may also be of value in this regard. Until more experience is gained, mid-trimester amniocentesis should be offered to CVS patients when mosaicism is encountered.
The biopsy of chorionic villi (BCV) has by now been applied in approximately 20,000 pregnant women world-wide in prenatal diagnosis. The first experience in the Federal Republic of Germany was gained in the centres supported by the Federal Ministry for Research and Technology. Based on a questionnaire sent to each of these centres, a survey of the situation is given up to July 1986; at that time, each centre had an average of 2 years of experience with this new diagnostic method. At the present time, approximately 10% of all amniocenteses are replaced by BCV, the transcervical, ultrasonic catheter control method being applied in most cases. In 89%, BCV also resulted in a reliable genetic diagnosis. Bleedings without induction of abortion (16.7%) were relatively frequent complications. Prediagnostic abortions occurred in 10.6% and 5.5% following BCV. However, every 5th abortion took a febrile course. Genetic diagnoses confirmed an evidently normal finding in 87.9% and a pathological finding in 4.4%. 6% of the findings made a control necessary. Abortion was performed in 3.8% of the cases following biopsy of chorionic villi.
In the last decade, chorionic villi sampling (CVS) has been widely accepted as a new technique in prenatal diagnosis. An inconsistency in karyotypes between CVS and fetal tissue was found in clinical practice, although the chorionic villi and the fetal tissues were from the same fertilized ovum. Karyotypes from direct chromosomal preparation of chorionic villi and cultured fetal tissues in 52 artificial abortion samples were compared. Results showed two cases with karyotypic inconsistency: (1) 46, XX/46, XY in the chorionic villus direct preparation and 46, XX in the fetal tissue; (2) 46, XY in the direct preparation of chorionic villi and 45,XY, t (15q21q) de novo in the fetal tissue. Our research demonstrates that karyotype from chorionic villus direct preparation does not always reflect the fetal karyotype.
Chorionic villi sampling (CVS) has become a first trimester alternative to amniocentesis for prenatal diagnosis. The cytogenetic findings in 150 experimental samples are presented. The ages of the mothers ranged from 12 to 35 years, but the majority of them were 18 and 19 years of age. Various parameters of culturing and processing the samples in order to improve the method, were investigated. Short term incubation for 48 h was the method routinely employed in processing the biopsies for cytogenetic analysis. In the first series of 100 cases one mosaic case (46,XX/45,X), one Robertsonian translocation (13;14), one marker chromosome and one fragment were found. The foetal tissues were not analysed for chromosomes. In the second series of 50 samples, one case of mosaicism was found in the chorionic villi (46,XX/47,XX, 18q-), but this abnormality was absent in the foetal tissue. One variant inv(9) was observed in the foetal tissue as well as in the chorionic villi. In all other cases the karyotypes from the chorionic villi samples matched those of the corresponding foetal samples. There was no maternal contamination in this series of 50 samples. The discrepancies in the cytogenetic results from other investigators are discussed.
Maternal cell contamination of chorionic villi (CV) samples used for first trimester prenatal diagnosis can cause obvious and/or unrecognized diagnostic dilemmas. The purpose of this investigation is to assess the frequency of maternal cell contamination (MCC) in chorionic villus samples and to evaluate selected parameters which might predict where contamination is more likely to have occurred. Maternal lymphocytes, chorionic villi from ultrasonically directed transcervical catheter aspiration, and fetal tissue were obtained at 8-11 weeks gestation from 45 patients undergoing elective termination. Quinacrine (Q) banded metaphases were compared from duplicate direct preparations of chorionic villi; cultured chorionic villi, fetal fibroblast tissue cultures, and maternal lymphocyte cultures. Q-polymorphisms in metaphase chromosomes were 100 per cent concordant between fetal tissue and direct CV preparation. However, evidence for maternal cell contamination occurred in 13.1 per cent of cultured chorionic villi preparations where polymorphisms were found to be identical between maternal and cultured CV and both distinct from fetal tissue preparations. Where MCC was identified, it was noted that CV cell cultivation interval was prolonged (24.2 +/- 6.8 days) compared with non-contaminated cultures (14.1 +/- 4.4 days) (p less than 0.05). We conclude that maternal cell contamination is a significant problem with chorionic villus sampling. Where direct preparations are not employed or when cultures are 'slow growing', MCC may be a significant and unrecognized complication re: fetal diagnosis. Direct preparations, multiple cultures, quinacrine banding, and maternal Q-polymorphism comparisons can minimize diagnostic dilemmas secondary to maternal cell contamination.(ABSTRACT TRUNCATED AT 250 WORDS)
Transabdominal CVS (chorionic villi sampling) was performed in 40 patients belonging to first or second trimester of pregnancy with 97.5% success, using a double and later single needle technique with no immediate complications. Karyotyping by direct method was successful in 75% of samples thus indicating the feasibility of cytogenetic analysis using villus tissue from first and second trimesters of pregnancy. It is a safe, simple, rapid and practical method of prenatal diagnosis in first and second trimesters of pregnancy with a potentially lower risk for fetal and maternal complications.
In long-term cultures of chorion villi the expression of cytoskeletal proteins--vimentin, cytokeratin, actin, tropomyosin and vinculin--was studied using immunoreactivity to antibodies. Vimentin was detected in all cells of chorionic villi cultures despite their morphological appearance. In comparison to fibroblast cultures from human skin biopsies with bundle-like vimentin structures, chorionic villi cells showed fine ramified vimentin filaments. Some of the chorionic villi cells with typical fibroblastoid appearance also had cytokeratin filaments. No differences were observed in the distribution of vinculin. Tropomyosin structure and actin filaments could be detected in cultures of chorionic villi whereas fibroblasts showed only an intense diffuse staining.