Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Chorionic Villi Sampling”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 325 records · Page 18Linked to original sources
PubMed2000

Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY).

We report on a prenatally detected case of discordant non-mosaic karyotypes following chorionic villus sampling. A 45,X karyotype was found in cytotrophoblast cells and a 46,XY karyotype in mesenchymal core cells. A subsequent amniocentesis showed a true 45,X/46,XY mosaicism. Confirmatory studies, including fluorescence in situ hybridization (FISH) in various fetal and placental tissues as well as in the original villi preparations changed the presumed condition of generalized mosaicism with culture confined normality to that of generalized mosaicism with absolute concordance. This case underscores the importance of the investigation of both short-term and cultured villi preparations, the implementation of prenatal FISH studies, and the need for thorough follow-up investigation in cases of discrepant results.

Chorionic Villi Sampling↗
PubMed1996

i(18q) in amniotic and fetal cells with a normal karyotype in direct chorionic villus sampling: cytogenetics and pathology.

A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which have never been reported in cases of i(18q).

Abnormalities, Multiple↗
PubMed1997

Chorionic villi or trophoblastic tissue in uterine samples of four women with ectopic pregnancies.

The diagnosis of early ectopic pregnancy remains challenging for the gynecologist. Although early detection of a suspected pregnancy has been facilitated by quantitative beta human chorionic gonadotropin studies and ultrasonography, a patient subgroup remains with an ambiguous presentation. In this group of patients, the clinician must rely on microscopic examination of products of conception in a uterine curettage specimen to rule out the presence of an extrauterine pregnancy. The presence of an implantation site, chorionic villi, or trophoblastic tissue in uterine curettage samples is conventionally held as definitive evidence of an intrauterine pregnancy. We present a series of four cases that challenge this convention. In these cases, chorionic villi or an implantation site were identified in uterine samples of pregnant women who each ultimately proved to have an ectopic pregnancy. If clinical suspicion is high, the finding of either chorionic villi or an implantation site should not preclude further workup of a possible ectopic pregnancy. In cases where only a few villi or a single chorionic villus are identified, other signs of intrauterine implantation such as intermediate trophoblastic cells, hyalinized vessels, and a fibrinoid matrix should be sought to establish firmly the diagnosis of an intrauterine pregnancy.

Adult↗
PubMed1999

Rapid one-day fluorescence in situ hybridisation in prenatal diagnosis using uncultured amniocytes and chorionic villi.

Rapid assays for the detection of the common chromosomal aneuploidies using DNA probes to chromosomes 13, 18, 21, X and Y have been developed in recent years. In this study, we report our experience using fluorescence in situ hybridisation (FISH) with uncultured amniocytes from amniotic fluids (AF) and cells from chorionic villus sampling (CVS) for prenatal diagnosis in 239 assays. Only 2 ml of AF or 5 mg of chorionic villi were required for FISH analysis using region-specific probes to chromosome 13, 18, 21, X and Y. Results were informative in all the assays conducted in this study. The average time to obtain a result was 24 hours. However, the results for chromosome X, Y and 18 were ready within four hours. The criteria employed for result interpretation were stringent. In a normal finding, at least 80% of all nuclei observed must have 2 discrete signals per cell. In a suspected abnormal case, a minimum of 60% of all nuclei observed must have one (monosomy X) or 3 signals (trisomy) per cell. One trisomy 13 and two trisomy 21 cases were detected. All FISH results were confirmed by karyotyping. Subsequent karyotyping of the resultant abortuses gave further confirmation of the results. The results obtained showed 100% positive and negative predictive values. This study shows that FISH can be used as a rapid routine assay in conjunction with full karyotyping analysis. Its prognostic value is especially important for patients with late referrals, parental anxiety, high-risk pregnancies identified by maternal serological screening and suspected foetal abnormalities detected by ultrasonographic examination.

Adult↗
PubMed1990

Transvaginal chorionic villus sampling.

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.

Adult↗