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At least 289 records · Page 16Linked to original sources
PubMed1995

[Rapid detection of numerical aberrations of chromosomes in the first trimester of pregnancy by using fluorescence in situ hybridization (FISH)].

Fluorescence in situ hybridization (FISH) has been applied for rapid prenatal diagnosis of common numerical aberrations of chromosomes. We used FISH with chromosome 13, 18 and 21 specific probes on 528 uncultured mesenchymal chorionic villi cell samples to detect the chromosomal abnormalities, and we also performed the conventional chromosome analysis of cultured cells from parallel samples. The results showed, in samples disomic with respect to the probed chromosomes, and average of 1 percent (range 0-18 percent) had three hybridization signals. By contrast, in the samples trisomic or triploidic for the probed chromosomes, an average of 70 percent (52-84 percent) (chromosome 13), 73 percent (68-84 percent) (chromosome 18), and 76 percent (54-90 percent) (chromosome 21, including one case of mosaic trisomy 21) of the nuclei displayed three signals. The whole test took about 24 hours. We concluded that FISH can provide a rapid and accurate method for the first trimester prenatal idetification of selected numerical aberrations of chromosomes.

Chorionic Villi Sampling↗
PubMed1989

[Experiences with transcervical chorionic villi biopsy in 274 studies].

In the years 1985-1987, 274 transcervical chorionic villi biopsy samples were taken at the Klinikum Steglitz Medical Center of the Free University of Berlin. We have information on the outcome of 264 pregnancies (96.3%). 229 cases (83.6%) yielded diagnostically usable results. Multiple biopsy samples were taken in 59 (21.5%) cases. Abnormal results were found in 14 patients. Pregnancy was terminated in 6 cases (2.2%) for proven chromosomal aberrations. In two others, spontaneous abortion occurred before the intended induced abortion. In 4 cases of mosaics, amniocentesis was performed subsequently in the 16th week of pregnancy; three of those pregnancies were carried to full term, and the children are healthy. In one case, we saw a spontaneous abortion in the 26th week of pregnancy. In two cases, we found balanced translocations. Miscarriage was observed in 16 CVS patients (5.8%). Abortion was febrile in two cases, septic in two others.

Chorionic Villi Sampling↗
PubMed1992

[Intraplacental hematoma following chorionic villi biopsy].

One of the most typical complications following chorionic villae sampling (CVS) is vaginal bleeding shortly or some days after the intervention, resulting in abortion in some cases. We report on a case of intraplacental haematoma (pathology: massive subtotal acute haemorrhagic placental infarct), followed by acute placental insufficiency in the 29th week of pregnancy. Therefore, we decided on an emergency caesarean section.

Adult↗
PubMed1989

Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time.

We report in detail two series of chorionic villus cultivation for prenatal chromosomal diagnosis. Chorionic villi were sampled from both first- and second-trimester pregnancies. One hundred cultures were treated with trypsin-EDTA for 2 h and collagenase overnight, (method A) and 100 were treated with trypsin-EDTA for 1 h and collagenase for 2 h (method B). Using short-term enzymatic digestion, the cultivation time was reduced from 14 days to 6 days. Sufficient amounts of metaphases of good quality were present in 93 per cent of primary cultures harvested in situ, whereas enough metaphases of sufficiently good quality were in most cases present only after subcultivation of the cultures using method A. The decrease in cultivation time obtained is probably due to a higher yield of viable cells in monocellular suspension, an increased attachment efficiency, and a more rapid attachment of single cells (within 24 h).

Chorionic Villi↗
PubMed1988

Chromosome banding in direct preparations of chorionic villi.

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 Villi↗
PubMed1998

Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature.

Trisomy 16 is the most frequent autosomal anomaly seen in early spontaneous abortions, accounting for 15 per cent of all chromosomally abnormal early spontaneous abortions. This trisomy is thought to be lethal in the non-mosaic state and incompatible with full fetal development. We report a case of placental trisomy 16 mosaicism detected after chorionic villus sampling (CVS). The patient was referred at 18 weeks of gestation on account of moderate intra-uterine growth restriction (IUGR). Detailed sonography showed a thickened and enlarged placenta with multiple 'cysts', polyhydramnios, a single umbilical artery and a small ventricular septal defect (VSD). CVS, amniocentesis (AC) and fetal blood sampling (FBS) were performed. After direct preparation of chorionic villi only 47,XX,+16 cells were seen. However, chromosomal analysis of cultivated amniotic fluid cells and fetal lymphocytes only showed a normal karyotype 46,XX. After direct preparation of a second CVS at 19 + 4 weeks of gestation the karyotype 47,XX+16 was confirmed in the contralateral part of the placenta and near the insertion of the umbilical cord. A normal female karyotype 46,XX was demonstrated by extensive karyotyping of various sites of the placenta, the neonatal skin fibroblasts and lymphocytes postnatally. In accordance with this observation the multiple 'cysts' of the placenta disappeared in the third trimester. We speculate that the sonographic findings of multiple round placental 'cysts' without a hyperreflective border may be caused by the trisomic cell lineages and therefore may be a sonographic marker of trisomy 16.

Abnormalities, Multiple↗
PubMed2001

Endogenous carbon monoxide formation by chorionic villi of term human placenta.

Carbon monoxide (CO) is a novel messenger that is proposed to play a complementary role with nitric oxide in the regulation of placental haemodynamics. In a previous study, CO formation from exogenous haem has been measured in the microsomal fraction of chorionic villi as an index of haem oxygenase activity. The objective of the present study was to determine whether endogenous CO is formed by dissected chorionic villi of term human placenta, to which no exogenous substrate or co-factor had been added. Each sample of freshly isolated chorionic villi (approximately 0.4 g) of term human placenta from caesarean delivery was incubated in a sealed vial containing 1 ml of Krebs' solution (pH 7.4) at 37 degrees C. CO formation was determined by quantitating, using a gas-chromatographic method, the amount of CO released into the headspace gas of the incubation vial. There was time-dependent formation of endogenous CO in chorionic villi incubated at 37 degrees C during a 60-min time course. CO formation was found to be minimal in chorionic villi samples incubated at 4 degrees C and was increased relative to tissue weight. The data demonstrate that there is endogenous CO formation by chorionic villi of term human placenta.

Carbon Monoxide↗
PubMed1991

[Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies].

Chorionic villus sampling and placental biopsies became established diagnostic alternatives to amniocentesis worldwide during the 80's. Safety and accuracy are the most important criteria for the evaluation of these newer techniques as compared to amniocentesis. We report on our experience with more than 3400 chromosome analyses between 1985 and 1990 from first to third trimester of pregnancy in a single centre. Most obvious is the higher frequency of mosaicism, which is often, but not always confined to the placenta. Mosaicism accounts for the overwhelming majority of all discrepant (so-called false negative or false positive) cytogenetic findings. The most important prerequisites for diagnostic accuracy of chromosome analyses are meticulous separation of villi immediately after the sampling procedure as well as simultaneous use of direct preparation and cell culture. If mosaicism is not taken as sound evidence for foetal aneuploidy, the accuracy of cytogenetic diagnoses after chorionic villus sampling and placental biopsies is in the same range as the one after amniocentesis.

Adult↗
PubMed2000

Amniocentesis and chorionic villus sampling.

Invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk of chromosomal aneuploidy or other genetic disease. Chorionic villus sampling is the procedure of choice for the first trimester. Early amniocentesis has been shown to carry increased risks of pregnancy loss, amniotic fluid leakage and talipes equinovarus. Mid-trimester amniocentesis continues to be the most common form of invasive prenatal diagnosis, with post-procedural loss rates of between 0.5 and 1%. This present review summarizes information on technique risks, looks at new technology applied to invasive prenatal diagnosis testing, and reports on new diagnoses that could be made either by amniocentesis or chorionic villus sampling.

Amniocentesis↗
PubMed1992

Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.

Twenty-four pregnancies at risk for Hurler disease (MPS I) were monitored by measurement of alpha-iduronidase in chorionic villi. Adequate samples were obtained for direct assay of the villi in 22 pregnancies. Five were found to be affected and the pregnancies were terminated. In another pregnancy an equivocal result was obtained on direct assay but analysis of the cultured chorionic cells showed the fetus to be affected. In one pregnancy where an exceptionally small biopsy was obtained, direct assay indicated the fetus to be unaffected. Following amniocentesis this result was shown to be incorrect. These results confirm that, provided an adequate sample is obtained, an accurate diagnosis can be made by direct assay of chorionic villi in pregnancies at risk for Hurler disease.

Amniotic Fluid↗