Fetoscopy.
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Biomedical subjects
Publications and source records attributed to C H Rodeck.
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Fetal sex was determined prenatally by molecular analysis of DNA from chorionic biopsy specimens taken in the first trimester of pregnancy. Single villi were obtained transcervically under direct vision with ultrasound guidance. The results of restriction endonuclease analysis of Y-chromosome-specific DNA from the biopsy specimens of 13 patients were confirmed in all cases by fetal karyotype analysis of cultures of biopsy specimens taken in parallel and of cultures of the products of conception. Prenatal sex determination by this method takes only 3-4 days and is not subject to the same errors as F-body identification.
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Three twin pregnancies, each with one affected fetus (by microcephaly, haemophilia A and spina bifida respectively) were encountered. Selective feticide was performed at the patient's request by injection of filtered air into an umbilical vessel by fetoscopy. The method was successful in all three pregnancies two of which resulted in a live, healthy baby.
Recent technological advances allow the detection and quantitation of subsets of leucocytes using monoclonal antibodies. We have taken advantage of this to study the ontogeny of fetal blood leucocytes, using very small blood samples obtained at fetoscopy. By 14 weeks gestation T cells represent 35 per cent or more of fetal leucocytes and the distribution of the helper/inducer and suppressor/cytotoxic subsets is similar to that of adults. B lymphocytes before 16 1/2 weeks are low (4-20 per cent), but rise to a mean of 28 per cent in 17-26 week fetuses. Granulocytic cells, many of which are phenotypically immature, represent 18-34 per cent of total leucocytes. The methodology employed is very reliable and offers the opportunity for the prenatal diagnosis of some immunodeficiency disorders, since using the same reagents we have diagnosed children with severe combined immunodeficiency shortly after birth.
Real time ultrasonography was used to examine the ovaries of 50 patients at the calculated time for artificial insemination with donor semen (AID). Forty-two (84%) had one or more follicles greater than 13 mm in diameter. Both ovaries were monitored daily until the main follicle had ruptured (mean number of examinations, 2.4 per patient; range, 1 to 5). Seven women became pregnant (mean follicular diameter, 21.6 mm; range, 18 to 25 mm). The fecundability rate was 12%, compared with 6% for a corresponding group of 50 patients who were not examined with ultrasound. Seven patients experienced mittelschmerz, and in 39 the leading follicle had ruptured before the rise in basal body temperature (BBT). Ultrasonography may be used to confirm the presence or absence of preovulatory follicle prior to treatment.
Pure fetal blood was obtained by direct-vision fetoscopy from 24 fetuses at 17-24 weeks' gestation. The activities of 14 glycolytic enzymes in the erythrocytes were analysed by established techniques to find the normal ranges of activity for this gestational age. The results were compared with those obtained from 24 normal adults and with published values on neonatal blood. The activities of most enzymes in fetal erythrocytes were found to be higher and the relative pattern of activity different from those of adult or neonatal blood. The ranges were relatively narrow and can serve as reference values for the prenatal diagnosis of erythrocytic enzymopathies. Also, the activities of the glycolytic enzymes will provide a basis for the understanding of erythrocyte metabolism in the fetus.
Real-time ultrasound scanning of ovarian follicles was performed during 61 cycles in 22 infertile patients being treated with sequential injections of human menopausal gonadotrophin (hMG) and human chorionic gonadotrophin (hCG). Total 24-h urinary oestrogens were estimated (and in 13 cycles plasma oestradiol) but the amount of gonadotrophin given was based mainly on the ultrasound findings. A retrospective analysis of the results showed that there was a poor statistical correlation between the diameter of the largest follicle and the total urinary oestrogens (r=0.39) and with the level of plasma oestradiol (r=0.56), although similar clinical information was obtained by all methods. Ovulation was induced in 58 cycles when the leading follicle had a mean diameter of 20-25 mm (mean 21.3 mm); follicular rupture was observed in 57 cycles and in these cases there was biochemical evidence of luteinization (plasma progesterone greater than 15 nmol/1; total urinary pregnanediol greater than 8 nmol/24h). Three patients (three cycles) were not given hCG; one developed micropolycystic ovaries and two showed evidence of hyperstimulation (one follicle greater than 25 mm diameter, three or more follicles 20-25 mm diameter). Twelve patients became pregnant, all with single fetuses. Subsequently one aborted, one had an ectopic pregnancy, three gave birth to normal babies at term and seven pregnancies are continuing. Real-time ultrasound scanning of ovarian follicles is a simple, practical method for monitoring follicular growth during the administration of hMG and predicting the response to hCG.
The concentrations of 13,14-dihydro-15-oxo-prostaglandin F2 alpha (PGFM), 6-oxo-prostaglandin F1 alpha (6-oxo-PGF1 alpha) and thromboxane B2 (T X B2) were measured by radioimmunoassay in peripheral plasma from 183 pregnancy women attending routine antenatal clinics. A total of 141 patients (47 nulliparous, 94 parous) remained normotensive and had uncomplicated pregnancies. The results from this group showed that there was no significant difference in the concentration of any metabolite in relation to parity or gestational age. The concentrations (pmol/l; means +/- SD) were PGFM 373 +/- 105, 6-oxo-PGF1 alpha 391 +/- 104 and T X B2 373 +/- 121. Nineteen patients (12 nulliparous, 7 parous) who had pregnancy-induced hypertension (PIH) by the time of sampling (three) or who subsequently developed the symptom (mean time from sampling to diagnosis 11 weeks, range 1-24 weeks) had significantly higher levels of 6-oxo-PGF1 alpha (574 +/- 216; P less than 0.0005, Student's t-test) and T X B2 (603 +/- 268; P less than 0.0005). The concentrations in seven nulliparous patients with PIH and proteinuria were 656 +/- 276 for 6-oxo-PGF1 alpha and 754 +/- 228 pmol/l for T X B2.
The effect of blood contamination on the gel-acetylcholinesterase (AChE) test used in the diagnosis of fetal open neural-tube defects was studied with amniotic fluid samples artificially contaminated with fetal or maternal blood in concentrations covering a range exceeding that usually found in clinical practice. Amniotic fluid samples contaminated with maternal blood gave negative gel-AChE results at all concentrations. Contamination with fetal blood yielded positive results if the erythrocyte concentration was greater than about 60 x 10(6) cells/ml. Thus contamination of amniotic fluid with blood is only likely to cause false positive gel-AChE results if this critical concentration is exceeded. Such samples will occur only rarely in clinical practice but when they do the diagnosis should be made with caution.
High levels of committed erythroid and granulocytic/monocytic progenitor cells have been demonstrated in fresh blood obtained at fetoscopy. The fetal progenitor cells were more sensitive to appropriate stimuli (erythropoietin and colony-stimulating factor) than adult progenitor cells grown under the same conditions, and this was shown to be due to intrinsic differences in the progenitor cells at the different developmental stages.
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Two fetuses with severe anaemia due to rhesus incompatibility each received two early blood transfusions (between 23 and 25 weeks) by fetoscopy. The blood was given directly into an umbilical vessel, either at the umbilicus or at the placental cord insertion. Fetal blood samples were taken before and after transfusion to assess the haematological status of the fetus. One grossly hydropic fetus survived.
A technique for sampling pure fetal blood in twin pregnancies using a single uterine entry with a fetoscope is described. The fetoscope was inserted into one sac and after blood had been obtained from that twin, the fetus in the other sac was sampled by trans-septal passage of the blood-sampling needle. This was done in six out of seven patients, the first in the series having two separate insertions of the fetoscope, one into each sac. Pure fetal blood was taken from all 14 fetuses, either from the placental insertion of the umbilical cord or the umbilicus, and the volume of the samples ranged from 200 mul to 1200 mul. In six patients the fetuses were at risk of beta-thalassaemia and in one of haemophilia A. Some observations are made relating zygosity to the ultrasonic and fetoscopic appearance of the septum between the sacs.
A radioreceptor assay utilizing human fetal brain plasma membrane as matrix and somatomedin A as ligand (fetal brain RRA-SMA) was developed. Increased levels of fetal brain RRA-SMA were found in the fetal circulation. The concentration was approximately 4-fold higher in the fetal as compared to the adult human. At birth, values fell within the adult range. In contrast, adult somatomedins determined by somatomedin radioimmunoassay were undetectable in the fetus and below the adult range at birth. Levels of fetal brain RRA-SMA were decreased in fetuses with different clinical disorders. In healthy newborns at cesarean section a significant correlation between serum fetal brain RRA-SMA values and birth weight and length was found. These results indicate the presence of an embryonic somatomedin in humans. The fetal brain RRA-SMA may provide a reliable index of fetal growth.