[Culture of human chorionic villi].
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A technique for chorionic biopsy under direct vision has been developed. It involves the transcervical insertion of a fetoscope into the extraamniotic space during continuous saline infusion. With this technique, not only is contamination with maternal tissue easily avoided, but it is even possible to select by direct vision just those villi considered most suitable for cultivation in vitro--i.e., villi rich in blood vessels and with an abundance of surface buds. As of November 1983 the technique had been used for diagnosis in 21 cases. In 19 pregnancies allowed to continue after sampling there was one fetal loss, and one woman gave birth to a healthy infant in the 39th week.
A report of our first experience in second and third trimester chorionic villus (placental) biopsy is given. In all 16 cases a cytogenetic result could be received within 2 to 5 days. There were 6 normal female and 9 normal male karyotypes. A third trimester CVS showed a mosaicism of a structural aberration of chromosome 9 (46, XX/46, XX, 9p+). Blood cultures of the fetus revealed a normal female karyotype. The following indications of a second and third trimester CVS are discussed: direct or indirect signs of fetal malformations in ultrasound scanning (Oligo- or Anhydramnios with severe intrauterine growth retardation), placental anomalies (exclusion of triploidies), non immunologic hydrops fetalis, low serum alpha FP and failed amniotic fluid culture. We believe that transabdominal CVS in the second and third trimester is a simple and rapid tool to exclude distinctively any chromosomal anomaly and therefore influences further management of pregnancy and parturition.
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Twenty-nine pregnant women and their families were questioned about how they experienced chorion villus biopsy in order to illustrate the significance of the test for the pregnancy. Semistructured interviews were carried out immediately after the test, one week later when the result was available and at ultrasonic scanning at the 18th-20th weeks of pregnancy, and these results form the basis for this study. One woman had a foetus with Down's syndrome. The remaining foetuses had normal chromosomes. The main interpretation of early foetal diagnosis and of a living foetus was positive. For the pregnant woman and her family, the main advantages were that the time of waiting for the result was reduced (as compared to the waiting time following amniocentesis) the psychological relief that the investigation can be performed early in pregnancy and that a possible termination could take place under full anaesthesia.
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