The article reports on the introduction of transabdominal chorionic biopsy in the Gynaecological Hospital of Ludwigshafen in cooperation with the Department of Human Genetics at the University of Heidelberg. After completion of a pilot study 15 diagnostic transabdominal chorionic biopsies were performed between the 15th and 23rd pregnancy week. Sampling was successful in all cases; the median estimated weight of the biopsied samples was 35 mg. Cytogenic, biochemical and molecular-genetic examinations were conducted. No complications were seen except for one subserous haematoma. Indications and time of performance are discussed. The transabdominal chorionic biopsy is easier to conduct in the 2nd trimenon than during the first, and can therefore be considered to be a favorable "entry" into the technique. Shifting the biopsy to an earlier date, namely, into the first trimenon, can be aimed at as the familiarity with the technique increases. The obvious advantages of transabdominal removal of villi compared with the transcervical method lead us to expect that in course of the time the transcervical method will be replaced by the transabdominal one. No indication for invasive prenatal diagnosis should be implied without previous detailed genetic counselling.
The results of 1,000 transabdominal amniocenteses between 15 and 20 weeks gestation are reported. The method is described. The bio-chemical and cytogenetic results are reported. - Amniocentesis in the first trimester is not a routine investigation since fetal and maternal risks are associated with this procedure. The risk of abortion following amniocentesis was lowered from 6/1000 to 2/500 by improvement of the technique under ultra-sound control. The worst maternal complication observed was a septic abortion one day after amniocentesis. 96% of all cyto-genetic examinations showed normal karotypes. The largest group at risk were mothers over 35 years of age. In this group chromosome anomalies were found in 17 cases. All neural tube defects were found by determination of the alpha-fetoprotein in the amniotic fluid. 26 terminations of pregnancy for fetal indications were carried out. Two patients refused therapeutic abortions despite trisomy 21 for ethical reasons. One patient continues her pregnancy with a 47 XYZ pregnancy.
This is a report on more than 228 chorionic biopsies performed at the Department of Gynaecology of the University of Heidelberg. After having completed the pilot study (about 100 cases before planned termination of pregnancy) with a success rate of 87% in obtaining useful chorionic villi we initiated chorionic biopsy for diagnostic purposes. A cytogenetic result was obtained in 95% of all cases after the villi had been sampled, using the method of transcervical aspiration. In 1% of the cases the obtained tissue could not be used; in another 1% a chromosomal mosaic-like pattern was seen, whereas in 3% of the cases no cytogenetic result was obtained despite the fact that partly the available tissue quantities were quite sufficient. No false sex diagnosis was made in any of the examined cases. In 98% of all instances of sampling of chorionic villi, a sufficient amount of useful chorionic villi tissue was obtained. Vaginal bleeding after chorionic biopsy occurred only in about one-third of the cases within 1-7 days after sampling. In another third of the patients questioned accordingly, no vaginal bleeding was reported following chorionic villi sampling. The remaining patients stated that there had been only short-term haemorrhages after biopsy. 122 of 226 patients have since delivered, 39 are at present in the 16th to 28th week of gestation, 41 beyond the 28th week and the remaining 13 were before the 16th week at the time they were questioned. Abortion or foetal death after chorionic biopsy was seen in four cases only (1.8%). No malformations were seen so far in the delivered infants.(ABSTRACT TRUNCATED AT 250 WORDS)
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