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Biomedical subjects

B Gustavii

Publications and source records attributed to B Gustavii.

At least 55 records · Page 3Linked to original sources
PubMed1983

A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome.

Platelet counts and platelet size were determined in midtrimester fetuses to obtain reference values to be used in prenatal diagnosis of inheritable platelet disorders. In 17- to 21-week fetuses, platelet counts ranged between 135 and 283 x 10(9)/L, and thus did not differ from those of newborn infants and adults. Mean platelet volume fell between 6.0 and 7.0 fl, which is in the range for adults. The data were used to exclude Wiskott-Aldrich syndrome in an 18-week fetus at 50% risk of being affected.

Blood Coagulation Disorders↗
PubMed1983

Fetal muscle biopsy.

Fetal muscle specimens suitable for histological and histochemical studies were obtained under fetoscopic visualization by removing a small piece of skin, thereby exposing the underlying muscle. The procedure was carried out in 7 cases prior to second-trimester abortion. Muscle specimens so obtained may become useful in the prenatal diagnosis of Duchenne muscular dystrophy.

Female↗
PubMed1983

Prenatal exclusion of Herlitz syndrome by electron microscopy of fetal skin biopsies obtained at fetoscopy.

Two women had each borne a child who had died of Herlitz syndrome, i.e., epidermolysis bullosa atrophicans generalisata gravis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of skin from the two fetuses were obtained at fetoscopy in the 19th week of gestation. In both cases the disorder could be ruled out prenatally on the basis of ultrastructural demonstration of the regular presence of normal hemidesmosomes with well-developed sub-basal dense plates at the dermo-epidermal junction. The infants were subsequently born and had normal skin, the sites of fetal skin biopsies showing no scarring.

Epidermolysis Bullosa↗
PubMed1983

Complement components in 100 newborns and their mothers determined by electroimmunoassay.

Samples of blood were obtained from 100 healthy full-term women in labour and, after delivery, from the umbilical cord of their infants. By electroimmunoassay, complement components were quantitated in serum (C1q, C1r, C1s, C1 IA, C2, P, D. I, H, C6 and C7) or in EDTA-plasma (C4, C3, B, C5. and C). The concentrations of C7 in cord serum was twice that found by others using a functional assay. Concentrations of C1r, I and C6 in the cord sample were 50-60 per cent of those in healthy blood donors used as reference, and that of D was about 130 per cent. The cord serum and plasma concentrations of the remaining components agreed with previously reported values. The maternal levels of C2, C4, C3, B, H, C5 were 40-60 per cent higher than those of the reference.

Complement C4↗
PubMed1982

Technical difficulties in fetal skin sampling.

Attempts were made to obtain skin biopsies from the fetuses of 18 women in the 16th to 21st week of gestation. In four of them the purpose was prenatal diagnosis because of the risk that the fetus might be affected with a severe skin disorder; the remaining women were to undergo elective abortion by hysterotomy. In the first 13 cases the conventional "blind" biopsy procedure was used. Of 71 biopsy specimens obtained with this technique, only one out of every three consisted of skin; the remainder comprised fetal membranes, myometrium, or trophoblast. In one of the diagnostic cases where the "blind" procedure was used, inadvertent removal of tissue specimens from the amniotic sac was probably responsible for the intermittent leakage of amniotic fluid that occurred in this woman from the 26th week of gestation and for the premature delivery in the 33rd week. In the remaining five women (including one for diagnosis), a two-cannula procedure was employed (one cannula for the optic instrument and the other for the biopsy forceps), permitting biopsy of the skin under direct vision. All the biopsy specimens taken by this method consisted of skin.

Biopsy↗
PubMed1982

Transfer of tissue cells to the fetus.

Several diseases of the fetus can be diagnosed prenatally. Some of them are due to insufficient production of a specific substance. It was therefore thought that, with the aid of fetoscopy, it might be possible to supply such an affected fetus with cells capable of producing the deficient substance. To ascertain whether tissue cells injected into the feto-placental circulation can pass through the microcapillaries of the placenta as early as in the second trimester, 125I-labelled cells of fetal liver were injected into an umbilical vessel ex utero after therapeutic abortion by hysterotomy. The distribution pattern of the radioactivity indicated that donor cells passed through the microcapillaries of the placenta and reached the target, i.e., the liver. In each experiment, the activity in the liver was higher than that in other organs studied. The activity in the brain and in the lungs was low. Transfer of tissue cells from a normal fetus to the circulation of an affected fetus in utero thus seems feasible. Permanent colonization of such cells would be facilitated by the fact that the donor as well as the recipient are fetuses of the second trimester and thus immunologically immature.

Blood↗
PubMed1982

Haemophilia A and B--two years experience of genetic counselling and prenatal diagnosis.

Haemophilia A. Thirty-one pregnant women, obligate or probable carriers of haemophilia A, requested prenatal diagnosis if sex determination showed the foetus to be a male. In 11 of the 31 cases the foetuses were females; in two, the genetic variant of the disease rendered prenatal diagnosis impossible; and in two, the mother aborted spontaneously. From the remaining 16 male foetuses, blood samples were obtained in utero in the 17th to 20th week of gestation. Examination of the samples showed that 11 of the foetuses were unaffected and five affected. Haemophilia B. Three carriers of haemophilia B had male foetuses. Examination of foetal blood obtained in utero showed that these three foetuses were affected. Confirmation. All women with an affected foetus requested termination of pregnancy. In one of the cases of abortion, no blood was obtained for confirmative examination. In the remaining cases, the prenatal prediction was confirmed in the abortus or in the child after birth; three women are still pregnant.

Factor IX↗
PubMed1981

Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy.

Two women had each borne a child who had alpha 1-antitrypsin (alpha 1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetoscopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean alpha 1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an alpha 1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of alpha 1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of alpha 1AT deficiency. Speculation Most of the alpha 1-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alpha 1-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero.

Female↗
PubMed1980

Transvaginal fetoscopy in anterior placentas.

When the placenta is located anteriorly, fetoscopy by the abdominal route may be impracticable. An alternative route, i.e., insertion of the fetoscope through the anterior vaginal fornix, was used in 31 women in midpregancy. Twenty-six of the women had been admitted for therapeutic abortion; the remaining five, for diagnosis. The insertion of the instrument was uncomplicated in all 31 women. In three of the five diagnostic cases, the disease at risk was excluded. The three women continued their pregnancies, and two of them went on to term without complications. The third woman had intermittent leakage of amniotic fluid. At 33 weeks she was delivered of a normal infant (birthweight 2 150 g). Transvaginal fetoscopy may be considered when an anterior placenta has an extension so broad that the abdominal approach is unfeasible.

Abortion, Therapeutic↗
PubMed1980

Prenatal diagnosis of hemophilia B by an immunoradiometric assay of factor IX.

An immunoradiometric assay of factor IX was developed based on homologous antibodies that arose in a hemophilic patient. With this assay, 11 of 12 patients with severe hemophilia B had factor IX antigen levels below 1 U/dl and 6 patients with mild hemophilia B had various levels. Factor IX antigen in 8 fetuses (16th-20th gestational week) aborted for therapeutic reasons ranged from 1.8 to 10.0 U/dl. Six amniotic fluids contained 0.28-1.2 U/dl factor IX antigen. Using the immunoradiometric assay, we could diagnose hemophilia B prenatally in one fetus at risk. No factor IX antigen (< 0.2 U/dl) was detectable in the fetoscopic sample. After termination of the pregnancy, analysis of blood from the abortus confirmed the diagnosis of severe hemophilia B. We conclude that very sensitive immunologic assays, such as the one described here, will prove useful in prenatal diagnosis of severe hemophilia B, since determination of factor IX activity in fetoscopic samples is unrealiable because of possible contamination with thromboplastic material.

Dose-Response Relationship, Immunologic↗