Biomedical subjects
Publications and source records attributed to B Gustavii.
Sixteen complement components were analysed at three different occasions during a normal pregnancy. Samples were also obtained at delivery and six weeks post partum. All factors but C1 IA and D increased during the pregnancy. Six weeks after the delivery, the levels of all components but C1s, C4 and C6 showed a beginning normalisation. In 15 per cent of the women, C1 IA was functionally inactive at delivery.
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After 150 ml of physiologic saline solution had been infused into the extra-amniotic space before first-trimester vacuum aspiration abortion, intrauterine pressure ranged between 16 and 23 mm Hg, thus not more than during Braxton Hicks contractions. At chorionic villi sampling during continuous saline solution infusion, fetal heart activity (beats per 15 seconds) decreased temporarily from about 36 to about 33.
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The cytogenetic findings in 20 experimental and 80 diagnostic cases of first trimester trophoblast biopsy are 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 been 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.
Six lysosomal hydrolases were studied in tissues of human placenta, amnion, decidua, and myometrium obtained in the 2nd and 3rd trimester. No significant increase in the activity of any lysosomal hydrolase was found in the 3rd-trimester values compared with those obtained in the 2nd trimester. Thus, the increased activity of lysosomal hydrolases in maternal serum at term, previously described in several studies, seems not to be paralleled by a corresponding increase in the activity of these enzymes in the tissues of the pregnant uterus. We speculate that the increase in maternal serum towards term may reflect a macrophage activation initiated by elevated estrogen concentrations in the 3rd trimester.
Chorionic villi were obtained by a direct vision technique. Villi without vessels (38 cases) failed to grow in vitro, irrespective of the amount of tissue. Vascular villi with an estimated weight exceeding 5 mg (71 cases) grew in vitro--with two exceptions.
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An improved technique for direct vision chorionic biopsy that gives a clear view of the amniotic sac was developed. With this technique, used in 48 women prior to vacuum aspiration and in six cases for diagnosis (karyotyping or enzyme analysis), it was possible to obtain chorionic villi free from contamination by maternal tissue. It was also possible to pick out villi (rich in blood vessels and with abundant buds on their surface) found to be most capable of growing in vitro. In the diagnostic cases, the pregnancies have continued uneventfully since the sampling; one pregnancy is now in the 32nd week.
Seven fetuses at risk of developing a serious inherited skin disorder (epidermolysis bullosa atrophicans generalisata gravis in 4, bullous ichthyosiform erythroderma in 2, and non-bullous ichthyosiform erythroderma in 1) were subjected to prenatal diagnosis by fetal skin sampling. The conventional "blind" biopsy procedure was used in the first 3 cases; a two-cannula technique (one cannula for the optic instrument and the other for the biopsy forceps) that permits biopsy of the skin under direct vision, was employed in the remaining 4 cases. With the "blind" technique, 8 to 10 biopsy specimens had to be taken to ensure that enough skin material would be available for the microscopic examination; only one specimen out of every two was found to consist of skin; the remainder comprised fetal membranes, myometrium, or trophoblast. In one case where the "blind" procedure has been used, leakage of amniotic fluid occurred and labor started in the 33rd week. With the two-cannula technique, the number of biopsy samples could be confined to two or three, and all proved to be of skin.
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The activity and isoenzyme pattern in plasma of beta-hexosaminidase (abbreviated Hex) and four other lysosomal hydrolases (alpha-fucosidase, beta-glucuronidase, alpha-hexosaminidase, alpha-mannosidase) were studied in 50 women at term and in 10 women at various intervals during the first 6 days after parturition. All hydrolases had elevated activity at term, compared with controls. After parturition the activity of alpha-mannosidase returned to the normal level within 2 days and that of Hex, beta-glucuronidase, and alpha-hexosaminidase within 6 days; alpha-fucosidase having a slightly elevated activity even at the end of this period. Isoenzyme analysis by isoelectric focusing was informative only in the case of Hex. Thus, the increased activity of Hex at term was mainly due to an increase in the isoenzyme form(s), with pI(s) between 5.6 and 6.8. The enzyme pattern of Hex during pregnancy and post partum observed in this study seems to have certain similarities to the previously noted enzyme pattern of Hex in acute ethanol intoxication and following withdrawal of ethanol. As lysosomal membranes are labilized by elevated levels of steroids, it is of interest to note that high levels of these hormones are found in plasma both at term and in chronic liver disease.
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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.