[Fetography and amniography in the prenatal diagnosis of genetic defects].
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Biomedical subjects
Publications and source records attributed to W Weise.
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Tests were applied to 118 out of 1,534 patients in a programme for alpha-fetoprotein analysis to compare values recorded from amniotic fluid with those obtained from maternal serum. The tests were part of a prenatal diagnosis scheme by which to rule genetic defects. Six clearly increased alpha-fetoprotein values which were indicators to malformations and admixture of fetal blood were recorded from amniotic fluid by means of Mancini's technique. No falsely negative findings were recordable. Only two values were increased in maternal serum, among them one falsely positive result with no malformation at all. The conclusion drawn from the above findings is that in the context of prenatal diagnosis of malformation the most reliable values are obtainable from determination of alpha-fetoprotein in amniotic fluid. Maternal serum tests may be recommended for screening for neural tube defects, with due reference to be made to upper limit values.
Alpha-fetoprotein measurement was undertaken in 1,582 instances, with 957 tests being applied to 776 patients for prenatal diagnosis of genetic defects, against the background of various indications - increased alpha-fetoprotein levels were recorded from the amniotic fluid of 24 patients (3.1 per cent). Values were defined as being increased, when they had exceeded threefold standard deviation from normal mean values. The causes underlying increased alpha-fetoprotein levels included six cases of anencephalia, one case of Turner's syndrome, one omphalocele, one intra-uterine foetal death, and one puncturing injury to a foetus. No foetal malformation or other foetal disorder, known to be accompanied by increased alpha-fetoprotein values, was recordable from 14 patients. Displacement of the pathological limit value to data five times the standard deviation reduced the number of erroneously positive findings to 0.8 per cent. Possibilities are discussed for differential of increased alpha-fetoprotein values. The proposal is made to respond to increased alpha-fetoprotein levels by another intensive ultrasonic B-scan test, control puncture, and, in certain cases, amniofetography.
The Stein-Leventhal syndrome is characterized by typical clinical signs, but diagnosis still remains to be somewhat difficult. No characteristic hormonal profile is detectable. Laparoscopy in conjunction with ovarian biopsy, and with due consideration of clinical symptoms, has proved to be the most reliable approach to diagnosis. Problems implied in differential diagnosis are expounded, with reference being made to various pathological patterns of the ovaries. Stein-Leventhal syndrome was diagnosed in 49 cases (3.22 per cent) in the author's gynaecological hospital, between 1974 and 1979. The patients concerned accounted for 0.2 per cent of all gynaecological cases and for 4.76 per cent of all sterility cases. Their average age was 22.4 years. No unambiguous findings were recorded from endocrinological parameters, though testosterone levels were pathologically increased in 47 per cent.
Gonorrhoea was detected in 7.3 per cent of 423 patients with gynaecological inflammations. Positive findings were recorded from 8.5 per cent of 248 patients with adnexitis and 6.9 per cent of 130 patients with fluor. However, gonorrhoea incidence among 31 patients with pointed condyloma was as low as 3.2 per cent. These findings were found to differ drastically from the data so far obtained from the common approach of microscopic diagnosis by which hardly any positive detection of gonococci had been recordable from gynaecological out-patients over the years. The present considerable rise in positive findings has resulted only from the use of a modified transport medium, according to Stuart, which proved to be highly applicable to gynaecological practice. With the authors' patients, the new approach showed the presence of gonorrhoea in one of 14 patients with inflammatory gynaecological processes. Against the background of the present epidemiological situation, verification of gonococci from cultures should be made an integral component of gynaecological routine checks.
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Studies conducted by Atkin and Pickthall are likely to suggest more frequent occurrence in normal cells of enlargement of the heterochromatin region of the A1 chromosome in patients with ovarian carcinoma, and its is also claimed to be a predisposing factor, in the context of ovarian carcinoma. - The authors of the paper have tried to find out, if they could draw similar conclusions from their own patients and, therefore, applied cytogenetic tests of lymphocytes to 50 patients, including 25 who had undergone treatment for ovarian carcinoma and 25 control probands. - An assessment was made of 298 mitoses. C-bands were accurately measured and calculated in 84 mitoses of both groups. --The dimensions of A1 heterochromatin were variable in the authors' preparations, too. However, such variability in size in either group is considered still as normal variant of the well-known A1 polymorphism, and the authors were not convinced that pathognomonic relevance should be attributed to those findings. - Enlarged C-band of A chromosome was recordable only from one lymphocyte culture of one patient with ovarian carcinoma. C-banding, consequently, cannot be considered a suitable screening method for ovarian carcinoma, in the context of lymphocyte culturing.
Transvaginal surgery for Stein-Leventhal syndrome is introduced in this paper. The following advantages are claimed for the new approach, as compared to abdominal surgery: less time required for surgical intervention, no laparotomic scar, smaller peritoneal wound, less traumatisation. The surgeon in command of vaginal surgery will find the new approach more convenient than the abdominal route.
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A total of 568 perinatal deaths occurred along with 25,111 childbirths, with 92 infants exhibiting malformations detrimental to life. The latter figure accounted for 16.2 per cent of all perinatal deaths or for 0.37 per cent of all childbirths. --Sixty per cent of the above malformations would have been detectable, had prenatal diagnosis been undertaken for the discovery of genetic defects. Every third malformation occurred along with a neural tube defect of which 93 per cent would have been detectable. Hydramnion in the course of pregnancy has proved to be the most specific indicator to malformation, and in 26 per cent of all pregnancies examined it was found to be present in concomitance with prenatally detectable malformations. Other data recordable in the context of pregnancy, including case history, hyperemesis, imminent abortion, gestosis, maternal infections, and exogenous noxae, were found to be unspecific and, consequently, not reliable for prenatal diagnosis. General ultrasonographic B-scan examination of all pregnant women would most probably help to detect 30 per cent of all malformations observed in this study, while prenatal detection of another eleven per cent seemed to be possible with less certainty. Such high rate of prenatal detection would help to reduce perinatal mortality by 6.7 per cent. Alpha-foetoprotein in maternal serum should be determined from all pregnant women, with the view to recording neural tube defects. Such step would be conducive to the detection of one third of all malformations. Further reduction of perinatal mortality and even more morbidity is thought to depend strongly on an expansion of indications for prenatal diagnosis.
Oocyte recovery was attempted on 62 women, with laparoscopy being applied to 46 and surgical treatment to 16. The attempts were successful in 56 per cent of them, with 61 oocytes being recovered. Twenty per cent of these were pre-ovulatory, 52 per cent non-ovulatory, and 28 per cent degenerated. The amount of oocytes recovered by laparoscopy was 25 per cent below that obtained from surgery. Possible variants of oocyte recovery are discussed. --Follicular puncture can be undertaken in concomitance with gynaecological operations, by the vaginal or abdominal routes. Less difficulty is implied in puncturing the extirpated ovary. Uterus or tube washing and ovarian extirpation are other possible approaches. Ovarian implantation and perfusion may be considered theoretical approaches to oocyte recovery. Laparoscopy or colpotomy are believed to be, possibly, the most promising approaches to oocyte transplantation, which may become relevant in the long run.
Trisomy-20 mosaicism was among the findings obtained from two prenatal diagnoses and is discussed in this paper. The pregnant women concerned decided to ask for termination of pregnancy. Eight instances of prenatally diagnosed trisomy-20 mosaicism and three cases of pseudomosaicism so far have been reported elsewhere in the literature. Six pregnancies were carried to full term, with phenotypically normal infants being delivered. Hence, prenatal diagnosis of trisomy-20 mosaicism alone does not seem to justify termination of pregnancy. Yet, abandonment of termination should be flanked by follow-up checks of the children delivered, in order to rule out subsequent manifestation of mental defects.
Male infertility is common. It usually is attributable to impaired maturation of germinal cells. The causes are related to the following factors: 1. Defective development of the gonadal ridge; 2. Abnormality of chromosomes; 3. Disorders in pituitary function; 4. Exogenous effects; 5. Unknown aetiology. -- Differentiation is difficult between those causes which often cannot be discovered at all. Therefore, assessment of male infertility is undertaken with reference to findings obtained from seminal, histological, immunological, cytogenetic, and hormonal tests as well as from electron microscopy.
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Prenatal diagnosis was made of 297 women. Amniocentesis was performed on 220 women to set up an amnion cell culture and on 77 women (26 per cent) for foetography and amniofoetography. Abortion occurred to nine per cent of those women following intra-amniotic injection of contrast medium, while premature delivery occurred to another 28.6 per cent of the probands. Perinatal mortality accounted for 13 per cent. Amniocentesis for amnion cell culturing was following by abortion of 3.2 per cent of the probands and by premature delivery of 2.3 per cent, while perinatal mortality was but slightly increased, the rate being 2.3 per cent. The differences were statistically secured. Foetography and amniofoetography should be followed by prophylactic cerclage.
Definitions are offered for the concepts of sterility and infertility. The notion of infertility is expanded to cover not only habitual abortions (three or more miscarriages) but, as well, deliveries of defective children. --Five-hundred and fifty-five pregnancies so far have occurred to 240 infertile probands, among them 78 with habitual abortions and 162 with damaged children. Only one in ten of those pregnancies resulted in clinically intact live birth. --Abortion was the result of 95 per cent of all pregnancies of the women with habitual abortion. The same applied to 25 per cent of all pregnancies of the above women with defective children (e.g. Down's syndrome, neural tube defects, diaphragmatic hernia, hydrocephalus, and progressive muscular dystrophy). A damaged child was born in more than 50 per cent of the latter pregnancy cases. --The number of children born by 162 women has been 181, with only 96 of them alive. The causality relationship between abortion and birth of defective children is discussed. --Infertile women should be given special attention, before conception takes place, and they should be kept under intensive care to the end of pregnancy.
Quantitative determination of qualitatively unequivocal signs for an individual oncobiogram is difficult. However, the use of a properly standardised analysis of chromosomes may offer a possible approach to the problem. Sixty-nine tissue cultures were prepared from 15 ovarian carcinomas, and 56 of them under went sufficient growth. A concentration of 2 . 10(-7) moles/l of trenimon was added to the tissue culture for one hour. Sixteen tissue cultures were used as controls. Chromosome preparation was achieved with good success after recovery periods between five and nine hours. A total of 2,890 mitoses was evaluated. Trenimon increased the amount of damaged mitoses from 1.2 per cent to eleven per cent, while the number of aberrations was aggravated even by the factor of 6.6. - The differences were statistically secured with high significance. Some of the cell cultures suffered rises in aberration frequency by 50 per cent and even 190 per cent. Such extreme values obviously suggest the presence of extraordinary sensitivity which be utilised for cytogenetic oncobiogram.
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