The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%). The main indication for sampling was maternal age over 36 (412 cases; 82.4%). Abnormal laboratory findings resulted in 24 terminations of pregnancy (4.8%); in addition five unexpected bala...

Invasive prenatal diagnosis techniques include chorionic villus sampling (CVS), amniocentesis, cordocentesis or percutaneous umbilical blood sampling (PUBS), fetal tissue sampling, as well as embryoscopy and fetoscopy (Table 2). Some diagnostic results may be obtained by more than one technique: for example, fetal karyotype can be obtained from cells from amniocentesis, chorionic villus samplin...

OBJECTIVES To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amniotic fluid with respect to a conventional semi-direct cytogenetic CVS method in ...

Invasive prenatal diagnosis techniques include chorionic villus sampling (CVS), amniocentesis, cordocentesis or percutaneous umbilical blood sampling (PUBS), fetal tissue sampling, as well as embryoscopy and fetoscopy (Table 2). Some diagnostic results may be obtained by more than one technique: for example, fetal karyotype can be obtained from cells from amniocentesis, chorionic villus samplin...

A 36 year old white female was referred for chorionic villus sampling for advanced maternal age. Direct (cytotrophoblast) preparations of chorionic villi were 45,X, but cultured mesenchymal core cells from the same villi were 46,XX. Study of embryonic and extraembryonic tissues showed the aneuploidy to be limited to cytotrophoblasts from specific placental sites. In aggregate, the cytogenetic f...

Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be highly efficient, with a diagnostic success rate of 97.7%. In the light of ou...

Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosa...

BACKGROUND Chorionic Villus Sampling (CVS) is the technique of choice for prenatal diagnosis prior to 12 weeks gestation. The objective of this study was to determine the feasibility, and pattern of complications following first trimester Trans-abdominal Chorionic Villus Sampling (TA-CVS). METHODS This was a descriptive study conducted in the Obstetrics and Gynaecology Department Military Hos...