Chromosome analysis in 100 cases of first trimester trophoblast sampling

Abstract

The cytogenetic findings in 20 experimental and 80 diagnostic cases of first trimester trophoblast biopsy arc presented. All samples were obtained between the 8th and 13th week of gestation with the direct vision, trans-cervical technique. Except when fetal sexing because of X-linked disease was the issue, long-term culture with in situ preparation was the method routinely employed in processing the biopsies for cytogenetic analysis. In 78 of the 80 clinical cases and in all reported experimental cases we were successful in establishing a karyotype from the sampled tissue. Unbalanced karyotypes were found in two experimental and six clinical cases. Tetraploidy was found in one clinical case, but was not confirmed in subsequently sampled amniotic fluid cells. In another clinical case, we were unable to confirm in the aborted placenta the trisomy 18 found in the trophoblast biopsy. In the rest of the induced abortions in the clinical series, the karyotype arrived at prenatally has been confirmed, and the 27 babies so far born have bcen healthy and with phenotypic sex corresponding to the prenatal findings. Six women have miscarried after sampling; in one of these cases the fetus had the karyotype 47,XX,+ 13.

An evaluation of maternal cell contamination in cultures of chorionic villi for the prenatal diagnosis of chromosome abnormalities

“…It has been argued that the finding of a sex ratio of approximately 1:l is evidence that MCC is not present (Heaton et al 1984, Heim et al 1985. In the present study we have looked for confirmation of the growth of fetal cells by comparing the heteromorphisms of Q-and C-banded karyotypes of female fetuses with those of their respective mothers as well as looking for female cells in male cultures.…”

First trimester chorionic villi sampling and direct chromosome preparations

“…In a report of 80 prospective cases, five unexpected fetal losses (6.9%) within two to ten weeks of the procedure were recorded (Heim et al 1985). In a report of 80 prospective cases, five unexpected fetal losses (6.9%) within two to ten weeks of the procedure were recorded (Heim et al 1985).…”

“…Information on fetal loss subsequent to CVS is scanty. In a report of 80 prospective cases, five unexpected fetal losses (6.9%) within two to ten weeks of the procedure were recorded (Heim et al 1985). reported nine spontaneous fetal losses (4%) subsequent to CVS in 225 continuing pregnancies.…”

“…Several investigators have reported their initial experiences with CVS, both with regard to the obstetrical and laboratory procedures (Williamson et al 1981, Kazy et al 1982, Ward et al 1983, Gustavii et al 1984, Pitman et al 1984, Blakemore et al 1984, Elias et al 1985, Perry et al 1985, Heim et al 1985, Wapner et al 1985. However, the lack of a clear understanding of the safety and reliability of this procedure has prevented its use on a routine basis.…”

“…However, the lack of a clear understanding of the safety and reliability of this procedure has prevented its use on a routine basis. Reports of maternal cell contamination in cultured villi, the difficulty in obtaining quality chromosomes from direct preparations, and the apparent discrepancies between the karyotype of the direct preparations of the villus and that of the fetus (Hogge et al 1985, Heim et al 1985 have further limited the use of CVS.…”