A non-consanguineous couple requested prenatal diagnosis because the woman's brother had Down's syndrome. Paternal and maternal ages were 32 and 30, respectively. They already had a normal daughter.Amniocentesis was performed during the 16th week of gestation; only mild oligohydramnios was noted.During the 20th week, the cytogenetic results were received (46,XX) but ultrasound showed that both biparietal and abdominal diameters were on the 5th centile, while the femoral length was on the 50th centile. Three weeks later another ultrasound scan showed that both the abdominal and biparietal diameters were below the 3rd centile; the femoral length was normal. This intrauterine growth
We report our experience in a cytogenetic study of 93 spontaneous abortions. Specimens were obtained by transabdominal chorionic villus sampling (TACVS) in women requesting prenatal diagnosis by chorionic villus sampling (CVS) but in whom an arrested pregnancy had been diagnosed during the ultrasound examination. Our success rate, i.e. the percentage of cases where we obtained results, was 91. 4 per cent, and the rate of abnormalities-mostly aneuploidies and polyploidies-was 62.3 per cent. In normal cases, masculine:feminine ratio was 1:1. These results confirm those obtained by other groups earlier this decade and allow us to conclude that, for the cytogenetic study of spontaneous abortions, CVS is a better approach than the culture of the products of conception after evacuation, because the success rate is higher and because it provides certainty that the specimens obtained are of fetal origin.
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