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Biomedical subjects

C H Rodeck

Publications and source records attributed to C H Rodeck.

At least 307 records · Page 17Linked to original sources

Study of the uterine cavity by ultrasound in the early puerperium.

The uterine cavity length, maximum width and area were determined by ultrasonic scanning in ten women after their first full term delivery (primiparae) and ten women after their second full term delivery (secundiparase) during the first eight days of the puerperium. A consistent and progressive decrease in all three measurements was found; although faster between days 1 and 3 than between days 3 and 8 the difference was statistically significant only for cavity area. The rates of involution for both parity groups were similar and were not influenced by breast feeding. The cavity length in primiparae and secundiparae was also similar, but the maximum width on days 3, 5 and 8 and the area on days 3 and 5 were significantly greater in secundiparae. A correlation between the infant birth weight and cavity length on day 1 and between infant birth weight and cavity area on days 1, 3 and 5 was found in secundiparae.

Adolescent↗

Plasma prolactin levels during pregnancy.

Plasma prolactin levels in women who were between 8 and 40 weeks pregnant were determined by a homologous double antibody radioimmunoassay method. There were 980 samples from 839 uncomplicated and 213 samples from 116 complicated pregnancies. Prolactin levels in normal pregnancies varied from 6 ng/ml during early pregnancy to 210 ng/ml near term. A few values beyond the normal range were found in various groups of complicated pregnancies. About 14 per cent of samples from patients with threatened abortion and 7 per cent from patients with hypertension were above the upper normal range. The proportion of values below the 10th centile in patients with a low urinary oestrogen excretion was significantly higher than that in the normal population. Plasma prolactin levels did not seem to be a valuable guide to maternal or fetal well-being.

Abortion, Threatened↗

The safety of fetoscopy: (I). Effect of umbilical vessel puncture on the fetal heart rate and cord histology.

The fetal heart rate (FHR) was continuously monitored during 42 umbilical vessel punctures performed at the placental insertion of the cord in 24 diagnostic fetoscopies in which pure fetal blood was obtained. In only one patient did a deceleration first appear during puncture and aspiration of fetal blood. In two patients decelerations preceded fetoscopy and in two others they began during the fetoscopy but before puncture of an umbilical vessel. In 19 patients, the FHR did not change at all during the procedure. Fetal haemorrhage after sampling was either absent or minimal. Six pregnancies were terminated because a positive diagnosis had been made and 18 healthy babies were born. Umbilical cords were examined after 7 terminations of pregnancy and after 6 deliveries. In the former group the puncture could just be seen with the naked eye and the needle track was demonstrated histologically in 6. No traces of the puncture or other abnormalities were found in the cords after delivery. Fetal blood sampling from umbilical cord vessels, particularly at the placental insertion of the cord, is the technique of choice since pure fetal blood can be obtained without increasing the risk of fetoscopy.

Blood Specimen Collection↗

The safety of fetoscopy: (II). Effect on maternal plasma levels of 13,14-dihydro-15-oxo-prostaglandin F2 alpha.

The concentration of 13,14-dihydro-15-oxo-prostaglandin F2 alpha (PGFM) was measured by radioimmunoassay in peripheral plasma in 62 pregnant women undergoing diagnostic fetoscopy. The mean concentration of PGFM before fetoscopy was 410.1 +/- 115.8 pmol/l (mean +/- S.D.) and the corresponding values at 10 and 20 min following the procedure were 440.9 +/- 125.6 and 394.4 +/- 103.3 pmol/l respectively; these differences were not statistically significant. Neither was there a significant change in the pre-fetoscopy concentration of PGFM in relation to gestational age between the 14th and 23rd week of pregnancy.

Abortion, Spontaneous↗

Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.

Homocystinuria due to cystathionine beta-synthase deficiency was excluded in a fetus at 23 weeks' gestation by demonstrating activity of the enzyme in fetal lymphocytes after stimulation by phytohaemagglutinin. Fetal blood sampling was carried out because two determinations of enzyme activity on cultured amniotic cells gave low, not fully diagnostic values.

Amniotic Fluid↗

Prenatal diagnosis of X-linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling.

Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X-linked diseases, or haemoglobinopathies did not show fragile sites at Xq27-28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.

Adult↗

Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error.

A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.

Adult↗

False elevation of amniotic fluid enzymes of relevance for prenatal diagnosis: creatine kinase measurement in relation to Duchenne muscular dystrophy.

The creatine kinase activity of amniotic fluid was measured in samples collected at fetoscopy. In our first study, the control sample range was 0.25 IU/l, although four samples had activities of 35-85 IU/l. Elevated values did not correlate with the activities in the fetal or maternal circulations. Electrophoresis revealed the presence of the BB isozyme of creatine kinase rather than just the MM form as expected. This suggested that the source of the elevated enzyme activity was from the myometrium, damaged by insertion of the trocar and cannula. In a further series the first 2 ml of amniotic fluid withdrawn yielded a much higher creatine kinase activity than a second aliquot. A control series of such second samples (first 2 ml discarded) gave an activity range of 0-7 IU/l with no spuriously high values. This compares favourably with a series from single samplings taken by amniocentesis. Normal creatine kinase activities were found in the amniotic fluids from 20 pregnancies at risk of Duchenne muscular dystrophy. We conclude that for accurate measurement of amniotic fluid enzyme activity the first portion withdrawn should be discarded. Amniotic fluid creatine kinase activity is of no value for the prenatal diagnosis of Duchenne muscular dystrophy.

Amniocentesis↗

Errors in plasma creatine kinase estimations on fetal blood samples resulting from contamination with amniotic fluid and maternal blood: relevance for the prenatal diagnosis of Duchenne muscular dystrophy.

This paper presents a detailed analysis of the calculation of fetal plasma CK activity in fetal blood samples contaminated with amniotic fluid and maternal blood. The seemingly simple formula for this calculation, first presented by Mahoney et al. (1977), is actually more complex than it appears; values for up to nine variables, two of which can only be assumed, are needed. Small variations in certain variables may result in very large errors in the final calculated value of fetal plasma CK activity. Examples of diluted blood samples are considered and the effects of allowing for reasonable errors in the variables is explored. The main source of error is in the measurement of CK activities in the diluted blood sample and in the amniotic fluid. Contamination by blood originating from the maternal circulation can also be a large source of error, especially if the mother is a carrier of DMD and maintains a high level of plasma CK activity during pregnancy. Fetal blood indices have to be assumed; these may be a source of significant error, depending on the difference between the actual and assumed values. The measurement of fetal plasma CK activity by the indirect calculation method is discussed in the context of the prenatal diagnosis of DMD.

Amniocentesis↗

Prenatal diagnosis of mandibulofacial dysostosis.

Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.

Female↗

Creatine kinase estimation in pure fetal blood samples for the prenatal diagnosis of Duchenne muscular dystrophy.

This paper compares the results of a survey of plasma creatine kinase (CK) activity measured in fetuses at-risk for Duchenne muscular dystrophy (DMD) with a reliable control series. Only pure fetal blood samples obtained by fetoscopy at between 17-24 weeks gestational age were used. Of the at-risk group 19 male pregnancies, mostly at low risk for DMD, proceeded to term with a normal outcome; there was no significant difference between their fetal plasma CK activities and the control group. Another 21 male pregnancies were terminated. This group included the highest risk mothers and hence was expected to contain a significant proportion of affected fetuses. The fetal plasma CK activity range was overlapping but significantly higher than the control group. No grossly elevated CK value was obtained. We conclude that, on average, DMD fetuses at this gestational age have higher plasma CK activity than controls. The problems of applying this finding to the prenatal diagnosis of DMD are discussed.

Creatine Kinase↗

Immunoreactive trypsin level in fetoscopically-obtained cord sera of second trimester fetuses.

Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based on IRT estimation might be valid if the onset of pancreatic dysfunction associated with the disease also occurs at mid-trimester.

Cystic Fibrosis↗

Prenatal detection of rubella-specific IgM in fetal sera.

Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Specific IgM was detected in the other three fetuses. In one case the level was low (1 unit) and this pregnancy went to term resulting in a neonate with clinical and laboratory evidence of congenital rubella infection. The remaining two fetuses had 2.8 and 2.4 units of specific IgM and the pregnancies were terminated. Blood obtained from these two fetuses after abortion showed levels of 5.4 and 2.9 units respectively. No specific IgM was detected in sera from eleven other fetuses aborted because of maternal rubella but five of these cases were terminated before 19 weeks and in five the interval between rash and abortion was three weeks or less. The results show that the human fetus can produce detectable specific IgM antibody by 19-20 weeks' gestation after exposure to rubella several weeks earlier. However, a larger study is required to define the reliability of fetoscopic blood sampling for the diagnosis of intrauterine infection.

Amniotic Fluid↗

Testosterone levels in midtrimester maternal and fetal plasma and amniotic fluid.

Testosterone was measured in maternal plasma (58 samples), amniotic fluid (71 samples) and fetal plasma (55 samples) in 79 patients between 15 and 23 weeks' gestation. Maternal plasma testosterone levels were unrelated to fetal sex. Amniotic fluid testosterone was significantly higher in male than female fetuses but did not reliably predict fetal sex. A correct diagnosis of fetal sex was made by testosterone assay of pure fetal plasma in 39 out of 40 males and in 15 out of 15 females using 1.70 nmol/l as the cut-off value. This investigation is not the method of choice for routine fetal sexing but may be of value in fetuses suspected of having certain endocrine disorders.

Amniotic Fluid↗

Normal blood cell values in the early mid-trimester fetus.

Samples of pure fetal blood from 116 fetuses of 15-21 weeks' gestation were obtained by direct vision fetoscopy. Ninety nine of these fetuses, presumed to be haematologically normal, were suitable for analysis. The data obtained show that the erythropoietic system is evolving rapidly in this gestational age range. The myeloid series shows no significant increase or decrease in numbers apart from eosinophils and basophils which increase significantly with gestational age whereas the platelet count remains constant. The growing application of fetoscopic blood sampling to the prenatal diagnosis and management of fetal blood disorders renders mandatory a knowledge of normal fetal blood values.

Erythrocyte Count↗

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.

Adult↗

Chorionic villus culture for first trimester diagnosis of chromosome defects: evaluation by two London centres.

The maceration technique for the culture of chorionic villi has been applied by St Mary's Hospital and King's College Hospital, to a total of 225 villus aspirates of which 100 were from diagnostic cases. Two hundred and eighteen (96.8 per cent) of these were successfully karyotyped, and chromosome abnormalities were detected in 15 cases. Of the cases with a normal karyotype, 113 were male and 90 were female. Sixty-nine (77 per cent) of the female cultures were demonstrated to be fetal and a further two of these may be verified at delivery. The use of Chang medium was found to accelerate cell growth thereby reducing the interval between sampling and reporting to less than 2 weeks. An unlimited quantity of metaphase spreads was obtained suitable for the application of routine banding techniques, and comparable to those obtained from amniotic fluid culture. Experience with diagnostic cases reinforced our view that culture should always back up direct analysis and this is discussed with particular reference to the occurrence of mosaicism in the trophoblast.

Chorionic Villi↗