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PubMed1994

Confined placental chimerism: prenatal and postnatal cytogenetic and molecular analysis, and pregnancy outcome.

The presence of two cell lines in chorionic villi sampling (CVS) represents a significant complication in CVS analysis, interpretation, and counseling. We report on the cytogenetic and molecular analysis of a pregnancy that was conceived on clomiphene citrate. Two cell lines (46,XX and 47,XY,+9) were discovered in CVS analysis done for maternal age; 94% of the cells in the culture were 46,XX and 6% were 47,XY, +9 (the direct preparation was 46,XX). As neither line could have derived from the other, chimerism and not mosaicism was suspected, with the 47,XY,+9 cells deriving from a co-twin whose demise was the result of the autosomal trisomy. At a subsequent amniocentesis, only normal female cells were observed and a normal female infant was delivered at term. Cytogenetic analysis done on the infant's peripheral blood and on a sample of an umbilical vessel showed only 46,XX cells, while amnion and a fibrotic area of the placenta contained 2 cell lines, 46,XX and 47,XY,+9. Molecular analysis of 3 different tissues was done by the polymerase chain reaction (PCR) and Southern blotting, using Y specific primers and probes, respectively. The presence of Y specific DNA was detected in the placenta and amnion, but not in the umbilical blood vessel. These data excluded true chimerism in the fetal tissues at the level of about 1 in 10(5) cells and have defined for the first time probable confined placental chimerism (CPC), the result most likely of a "vanishing twin." Whenever two cell lines are found in CVS, especially in the setting of pharmacologically stimulated ovulation, the possibility of CPC should be considered. The effects of CPC on placental function and fetal outcome merit further study.

Adult↗
PubMed1984

[Sampling, culturing and karyotyping of chorionic villi].

The authors report on 69 samples of chorionic villi taken from patients who were undergoing therapeutic termination of pregnancy. These samples were taken using small forceps which were guided by ultrasound. The reliability and the chances of culturing these villi in order to work out the caryotype of the fetus and to study the enzymes is discussed.

Chorionic Villi↗
PubMed1998

Comparison of telomerase activity in normal chorionic villi to trophoblastic diseases.

Trophoblasts are derived from the normal placenta, and they infiltrate into the endometrium and the maternal blood vessels under strict control but, unlike malignant cells, never metastasize. To understand the proliferative characteristics of trophoblasts and its related disorders, we assessed telomerase activity in chorionic villi obtained from 27 normal individuals, 9 hydatidiform moles, and 2 choriocarcinomas. Telomerase activity was detected in 13/27 (48%) normal chorionic villi samples. The detectability and the level of telomerase activity depended on gestational age; 8/10 (80%) villi samples in the first trimester (relative telomerase activity; 1.77 +/- 1.37), whereas 2/8 (25%) villi samples in the second trimester (0.78 +/- 1.52) and 3/9 (33%) in the third trimester (0.28 +/- 0.43) had telomerase activity. Telomerase activity of normal chorionic villi in the first trimester was higher than that of the third trimester (P = 0.0251). In contrast, all mole samples had increased telomerase activity compared to normal villi (3.17 +/- 2.81, P = 0.0152). Thus, a relationship may exist among cell proliferation, telomerase activity, and progression to trophoblastic disease.

Adult↗
PubMed1992

Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy.

Two cases of trisomy 16 confined to placental tissue associated with an unfavourable outcome of the pregnancy are reported. In the first case, after a diagnosis of an apparent non-mosaic trisomy 16 at chorionic villi sample (CVS), an intrauterine fetal death occurred at the 22nd week. In the second case a mosaic with trisomy 16 was found in chorionic villi and the fetus was still-born at 38 weeks. From a comparison of their cases with those of the literature, the authors conclude that a trisomy 16 confined to placental tissue has a negative effect on fetal growth and pregnancy outcome.

Adult↗
PubMed1996

HIV-1 proviral DNA polymerase chain reaction detection in chorionic villi after exclusion of maternal contamination by variable number of tandem repeats analysis.

OBJECTIVE: The study of the placental HIV infection in cases of seropositive pregnant women after exclusion of maternal contamination of chorionic villi samples by variable number of tandem repeats (VNTR) analysis. METHODS: We studied 30 HIV-positive women: 17 terminated their pregnancy (11 in the first trimester and six in the second) and 13 delivered at term (one was a twin gestation). We selected chorionic villi and ruled out maternal contamination by VNTR analysis. DNA from chorionic villi and cord and maternal blood were tested for HIV by PCR. All infants underwent a paediatric follow-up. RESULTS: All maternal blood samples tested positive for HIV-1 by polymerase chain reaction. No maternal contamination was revealed and HIV was found in six out of 11 first trimester placentas, in all second trimester samples, and in 10 out of 14 at term. Cord blood tested positive in all second trimester cases and in seven out of 14 liveborns. In no case was HIV found in cord blood without infection of the corresponding placenta; conversely, three placentas tested positive but cord blood was negative. Two infants were HIV-positive, 11 were uninfected (one case was lost to follow-up). CONCLUSION: Our study indicates that HIV-1 can infect the placenta from first trimester onwards. HIV was found in two-thirds of our cord blood samples but it is possible that some viral DNA in cord blood may have come from infected placental cells. Additional studies are needed to assess the source of HIV in cord blood and the possible contribution of placental or maternal cells infected with HIV to vertical transmission of the virus.

Blotting, Southern↗
PubMed1986

Isoenzymic analysis of fifteen non-lysosomal enzymes in human chorionic villi.

The electrophoretic pattern of 15 non-lysosomal enzymes was established in human chorionic villi sampled at 8-12 weeks of gestation from 30 women requesting legal abortion. The product of 23 genes was detected at this stage of development. Trophoblast cells are mitotic derivates from the zygote. Thus, chorionic villi have the same genetic constitution as the embryo. Establishing the normal isoenzymatic patterns in fetal life is of wide theoretical and biological interest. In particular, it contributes to the understanding of gene modulation and the differential activity of alleloenzymes during early embryogenesis and development. In addition, the possibility is suggested that in the future electrophoresis analysis can be used in conjunction with quantitative enzyme assay for the fetal diagnosis of specific metabolic disorders involving one or more isoenzymes.

Chorionic Villi↗
PubMed1993

[A simple and reliable method for detection of the R408W mutation in exon 12 of the phenylalanine hydroxylase gene in the molecular diagnosis of phenylketonuria].

A new method for identification of R408W mutation common in phenylketonuria (PKU) patients in Russia and Eastern Europe is presented. The method is based on restriction of amplified exon 12. Amplification was achieved by PCR and was followed by restriction with StyI endonuclease. This enzyme specifically recognized allele R408W (C-T change in the position 1444 of the PAH gene) but not the normal allele. The method is easily reproduced both in DNA samples and in blood spots on the blotting paper (Gathrie cards) as well as in native cells from chorionic villi samples and amniocytes without preliminary DNA extraction. The method is very reliable and quick and has obvious advantages over other methods (ASO, ARMS) routinely used for identification of R408W mutation in the PKU high risk families.

Alleles↗
PubMed1987

A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products.

The advantages of the emergence and development of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality.

Adult↗
PubMed1988

Abortion risk in chorionic villus sampling. Evaluation in elective termination of pregnancy.

100 patients were examined to evaluate the risk of abortion of chorionic villus sampling. In the 8th-10th week of pregnancy a catheter with a mandrin was introduced into the chorion frondosum under ultrasound guidance. The mandrin was then removed and trophoblast tissue obtained by aspiration. The patients agreed to postpone elective termination of pregnancy for 2 weeks. Another ultrasound was performed before suction curettage. With increasing experience, the abortion rate dropped to 4%, whereas the rate of successful biopsies and analyses rose to more than 90%. Based on these results, chorionic villi sampling was made available at the 1st Department of Obstetrics and Gynecology, University of Vienna, as an alternative method to amniocentesis. Out of 38 biopsies, 25 karyotypes were normal, two biopsies revealed pathological results (trisomy 21, 22), 11 samples showed no results (insufficient tissue or no mitoses). One patient had a spontaneous abortion (trisomy 22) and one an abortion due to infection. Chorionic villus sampling could replace amniocentesis because chromosomal anomalies may be detected already in the 1st trimester of pregnancy.

Abortion, Induced↗
PubMed1988

Chorionic villus sampling in a high-risk population--4 years' experience.

Between August 1982 and July 1986 a total of 163 pregnancies in 136 patients with a high genetic risk have had prenatal diagnosis by chorionic villus sampling. Villi were not obtained in five pregnancies (two of which subsequently miscarried), and 11 fetal losses followed successful sampling (four in pregnancies in which the fetus was shown to be affected). The rate of fetal loss fell with increasing experience of the team. Three sets of twins were all sampled successfully.

Abortion, Spontaneous↗
PubMed1985

[Status of prenatal diagnosis using direct interventions on the fetus].

Prenatal diagnosis has developed into a large flourishing multidisciplinary branch of medicine. At present prenatal diagnosis is world-wide possible in the second trimester of pregnancy by analysis of both amniotic fluid obtained by amniocentesis or amniotic cell cultures. Ultrasound plays a central role in prenatal diagnosis, and has revolutionized obstetric practice. Without dealing with all aspects of prenatal diagnosis we have discussed the following invasive procedures, which give the prenatal diagnosis its forward thrust: fetal blood sampling including intravascular transfusion, fetal skin-, liver- and muscle biopsy, chorion biopsy, selective birth in twin pregnancies, and fetal therapy including fetal surgery. In utero surgery is in its earliest stages. Such simple procedures as decompression of the hydronephrotic kidney in obstructive uropathy, of the fetal lungs in pleural effusions caused by chylothorax, or of the hydrocephalic ventricle may be useful, but the possible success rate for such efforts remains still uncertain. The possibilities of first-trimester prenatal diagnosis especially by DNA-technology or direct chromosomal and biochemical analysis has stimulated the development of a multiplicity of methods for taking chorion biopsies. Compared with second trimester amniocentesis, the introduction of prenatal diagnosis by chorionic villi sampling would reduce the psychic trauma for patients waiting on results and allow earlier and safer termination of pregnancy.

Biopsy↗
PubMed1991

Detection of the Glanzmann's thrombasthenia mutations in Arab and Iraqi-Jewish patients by polymerase chain reaction and restriction analysis of blood or urine samples.

Severe Glanzmann's thrombasthenia is relatively frequent in Iraqi-Jews and Arabs residing in Israel. We have recently described the mutations responsible for the disease in Iraqi-Jews--an 11 base pair deletion in exon 12 of the glycoprotein IIIa gene, and in Arabs--a 13 base pair deletion at the AG acceptor splice site of exon 4 on the glycoprotein IIb gene. In this communication we show that the Iraqi-Jewish mutation can be identified directly by polymerase chain reaction and gel electrophoresis. With specially designed oligonucleotide primers encompassing the mutation site, an 80 base pair segment amplified in healthy controls was clearly distinguished from the 69 base pair segment produced in patients. Patients from 11 unrelated Iraqi-Jewish families had the same mutation. The Arab mutation was identified by first amplifying a DNA segment consisting of 312 base pairs in controls and of 299 base pairs in patients, and then digestion by a restriction enzyme Stu-1, which recognizes a site that is absent in the mutant gene. In controls the 312 bp segment was digested into 235 and 77 bp fragments, while in patients there was no change in the size of the amplified 299 bp segment. The mutation was found in patients from 3 out of 5 unrelated Arab families. Both Iraqi-Jewish and Arab mutations were detectable in DNA extracted from blood and urine samples. The described simple methods of identifying the mutations should be useful for detection of the numerous potential carriers among the affected kindreds and for prenatal diagnosis using DNA extracted from chorionic villi samples.

Base Sequence↗
PubMed1992

Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems.

A study was performed to evaluate the effect on the frequency of sister chromatid exchange in first trimester chorionic villi of two chemical compounds, mitomycin C and cyclophosphamide. Mitomycin C is generally known to induce an increase in sister chromatid exchange both in vivo and in vitro standard conditions. Cyclophosphamide is a compound requiring additional enzymatic enrichment of the culture medium to express its mutagenic activity under in vitro conditions. We exposed chorionic villi samples to these chemicals without the use of conventional cell cultures and without adding enzymatic extracts to the medium. The results indicate a statistically significant increase in the frequency of sister chromatid exchange after exposure to both compounds and also at lower dosages.

Biotransformation↗
PubMed1988

[Puncture of the chorionic villi. Technic--experiences--risks].

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.

Abortion, Spontaneous↗
PubMed1986

[Chorion biopsy--a new method of prenatal diagnosis].

Chorionic villi are derivates of the trophoectoderm and therefore have the same genetic constitution as the embryo. The recently developed techniques of chorionic villi sampling in the 9th to 11th week of pregnancy and the cytogenetic analysis of this material open a new field in the prenatal diagnosis of chromosomal aberrations. With this method, a result is obtained about 8 weeks earlier than with the classical procedures performed by amniocentesis. This offers major advantages to both patient and physician.

Abortion, Incomplete↗
PubMed1987

[Experiences with prenatal diagnosis of sickle cell anemia and thalassemias in the first trimester of pregnancy: various aspects for the obstetrician].

After an extensive educational campaign for the medical community in the area of the Westf. Wilhelms-University Münster five pregnancies at risk for sickle cell anemia and thalassemias were investigated during the first trimester of pregnancy. Following chorionic villi sampling in one case a sickle cell anemia and in two other cases a beta-thalassemia could be excluded. In two additional cases a homozygous beta-thalassemia was proven and in one of the cases the first trimester diagnosis was confirmed in the second trimester by fetal blood sampling. Because of the migration patterns in Europe there is currently a considerable demand for prenatal diagnosis of beta-thalassemias in West-Germany after proper information of the population at risk.

Anemia, Sickle Cell↗