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C Rodeck

Publications and source records attributed to C Rodeck.

At least 73 records · Page 4Linked to original sources
PubMed1993

Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing.

A procedure which combines the collection of fetal cells by transcervical flushing and in situ hybridisation techniques on nuclei in interphase was used to detect trisomy 18 in a fetus at 12 weeks of gestation. Using a primed in situ labelling method, we could also detect Y-specific sequences in a small percentage of transcervically flushed cells obtained at 8-12 weeks from pregnant women with male fetuses. This approach seems to be suitable for prenatal diagnosis of major chromosomal abnormalities and other selected inherited disorders very early in gestation.

Adult↗
PubMed1993

Incremental spinal anaesthesia for elective caesarean section: maternal and fetal haemodynamic effects.

We have performed serial haemodynamic investigations in 20 women undergoing elective Caesarean section under continuous spinal anaesthesia with a 32-gauge catheter with 0.5% heavy bupivacaine. Cardiac output was measured by Doppler and cross-sectional echocardiography at the aortic valve. Doppler flow velocity waveforms were recorded also from the umbilical artery. A block to T4 or above was achieved in all patients. The median dose of 0.5% bupivacaine administered was 2.0 ml (range 1.5-4.5 ml). Mean cardiac output increased from 7 to 8 litre min-1 after preloading with Ringer lactate solution 1.5 litre and then remained unchanged after injection of bupivacaine. Two subjects developed hypotension, although mean values of arterial pressure and umbilical artery pulsatility index did not change. The median umbilical artery pH was 7.27 (range 6.98-7.32) and there was a significant correlation between pH and the maximum percentage decrease in cardiac output. The results suggest that continuous spinal anaesthesia is associated with greater haemodynamic stability than single bolus spinal injection.

Adult↗
PubMed1993

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.

OBJECTIVE: Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21-hydroxylase gene. These procedures will help to minimize exposure to dexamethasone treatment of either affected males or unaffected females. DESIGN AND PATIENTS: Chorionic villus biopsy samples were obtained between 10 and 11 weeks gestation from three females carrying fetuses at risk of steroid 21-hydroxylase deficiency. Blood samples were taken from parents and the index case in each family. MEASUREMENTS: Three common mutations in the 21-hydroxylase B gene were detected following DNA amplification. RESULTS: Prenatal diagnosis of congenital adrenal hyperplasia was successful in all three cases. One affected female was treated with dexamethasone to term. In the other two cases, one affected male and one carrier also male, dexamethasone was withdrawn at an early stage. CONCLUSIONS: First trimester prenatal diagnosis of steroid 21-hydroxylase deficiency was achieved in three pregnancies with a strategy based on direct detection of gene mutations.

Adrenal Hyperplasia, Congenital↗
PubMed1993

Phenytoin prophylaxis in severe pre-eclampsia and eclampsia.

OBJECTIVE: To determine plasma phenytoin levels and seizure outcome in women given phenytoin for seizure prophylaxis in severe pre-eclampsia and eclampsia. DESIGN: Prospective observational study comparing two phenytoin loading regimens. SETTING: Two UK teaching hospitals. SUBJECTS: Sixty-seven consecutive women with severe pre-eclampsia and five with eclampsia. INTERVENTIONS: The first 29 women were given a 15 mg/kg intravenous loading dose of phenytoin. The next 43 received 17.5 mg/kg. All were given 500 mg phenytoin 12 h after completion of the loading dose and then 250 mg every 12 h for four doses. MAIN OUTCOME MEASURES: Total plasma phenytoin levels at 30 min, 6 h and 12 h after loading dose, 6 h after first maintenance dose and on days 2 and 3 of maintenance therapy; eclamptic seizures after starting phenytoin. RESULTS: Mean plasma phenytoin levels were higher at 30 min and 6 h after the 17.5 mg/kg loading dose. Nine of 29 (31%) phenytoin levels 30 min after the loading dose were above the therapeutic range in the 15 mg/kg group compared with 26/38 (68%) in the 17.5 mg/kg group (P < 0.01). Six of 27 (22%) phenytoin levels 12 h after the loading dose were subtherapeutic in the 15 mg/kg group compared with 2/38 (5%) in the 17.5 mg/kg group (P < 0.05). Three women, two in the 17.5 mg/kg group, developed seizures after starting phenytoin. All three had plasma levels within the therapeutic range. CONCLUSIONS: Compared with a loading dose of 17.5 mg/kg, loading with 15 mg/kg phenytoin was associated with a lower incidence of high plasma levels at 30 min but a higher incidence of subtherapeutic levels at 12 h. Seizures occur in 2 to 3% of pre-eclamptics despite apparently therapeutic phenytoin levels.

Adult↗
PubMed1992

Maternal and fetal haemodynamic effects of spinal and extradural anaesthesia for elective caesarean section.

Serial haemodynamic investigations were performed in 32 women who were allocated randomly to receive either spinal or extradural anaesthesia for elective Caesarean section. Cardiac output was measured by Doppler and cross-sectional echocardiography at the aortic valve. Doppler flow velocity waveforms were recorded also from the umbilical artery. Preloading with Ringer lactate solution 1 litre increased cardiac output in both groups. After injection of bupivacaine, cardiac output remained increased in the extradural group, but decreased in the spinal group. This was associated with an increase in umbilical artery pulsatility index in the spinal group. Umbilical artery pH was less in the spinal group (7.22 vs 7.27), although no neonate was depressed at birth. The maximum percentage change in cardiac output and umbilical artery pulsatility index correlated with umbilical artery pH (r = 0.54, r = 0.72, respectively). There was no significant correlation with change in arterial pressure.

Adult↗
PubMed1992

Alpha thalassaemia hydrops fetalis in the UK: the importance of screening pregnant women of Chinese, other South East Asian and Mediterranean extraction for alpha thalassaemia trait.

OBJECTIVE: Alpha zero (alpha 0 or alpha-1) thalassaemia is an important genetic risk for women originating from Hong Kong, Singapore, Vietnam, Thailand, the Philippines or South China. Cypriots are also at risk. Carriers of alpha zero thalassaemia trait can be detected by routine haemoglobinopathy screening. When a couple are both carriers, in each pregnancy there is a 25% risk that the fetus will have alpha thalassaemia hydrops fetalis; this is fatal for the fetus and carries serious obstetric and psychological risks for the mother. Most informed couples at risk request prenatal diagnosis and selective abortion. This study investigates the effectiveness of screening, counselling and prenatal diagnosis for alpha thalassaemia hydrops fetalis in the UK. DESIGN: Retrospective analysis of the notes. SUBJECTS: 18 couples attending University College Hospital London for prenatal diagnosis of alpha thalassaemia hydrops fetalis since 1982. RESULTS: The study shows underdiagnosis of both alpha zero thalassaemia trait and alpha thalassaemia hydrops fetalis leading to avoidable stillbirths and complications in pregnancy. CONCLUSION: We recommend early screening for alpha zero thalassaemia trait for all women of Southeast Asian or eastern Mediterranean origin and the offer of prenatal diagnosis when indicated. The diagnosis of alpha thalassaemia hydrops fetalis should be considered in women of the relevant ethnic origin who have a stillbirth, neonatal death, abnormal ultrasound findings at fetal anomaly scanning (especially a large placenta), or who develop pre-eclampsia.

Abortion, Spontaneous↗
PubMed1992

Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.

We report the clinical features, biochemical details, and treatment of the first detected cases of an inborn error of aromatic L-amino acid decarboxylase. Male monozygotic twins presented with extreme hypotonia and oculogyric crises. Concentrations of biogenic amines and their metabolites were reduced considerably both centrally and peripherally. Pterin and phenylalanine metabolism were normal. Activity of aromatic L-amino acid decarboxylase was virtually absent in a liver biopsy sample and greatly reduced in plasma. Concentrations of L-dopa, 3-methoxytyrosine, and 5-hydroxytryptophan were elevated in CSF, plasma, and urine. CSF S-adenosylmethionine concentrations were reduced. Pyridoxine treatment had no clinical effect but led to a fall in CSF L-dopa and 3-methoxytyrosine and a rise in S-adenosylmethionine. Treatment with either bromocriptine or tranylcypromine stopped the abnormal eye movements; tranylcypromine treatment also improved muscle tone and led to a rise in plasma norepinephrine and whole blood serotonin. Combined treatment with pyridoxine, bromocriptine, and tranylcypromine produced sustained improvement in tone and voluntary movements. The twins' parents were asymptomatic but had reduced plasma aromatic L-amino acid decarboxylase activity, consistent with heterozygosity. We monitored a subsequent pregnancy through biochemical analyses of a fetal liver biopsy sample and of amniotic fluid. We predicted an unaffected fetus, which was confirmed clinically and biochemically after birth.

Amniotic Fluid↗
PubMed1990

The intracardiac neurones of the fetal human heart in culture.

Dissociated cell culture preparations were employed to study intracardiac neurones of the atria from human fetal hearts at 9 to 21 weeks' gestation. Intracardiac neurones were not observed in cultures dissociated from the ventricles. Single neurones, as well as groups, could be identified by phase-contrast microscopy in all of the atrial cultures prepared from 14 to 21 weeks' gestation, and protein gene product 9.5-like immunoreactive neurones were detected in cultures from as early as 10 weeks' gestation. The neurones were mononucleate, with a prominent nucleolus or multiple nucleoli, and often had extensive neurites. Neurones tended to be bigger in cultures from later stages in gestation, and these cells appeared to be more mature with a complex pattern of neurite outgrowth. Many neurones from 15 to 20 weeks' gestation expressed somatostatin-like immunoreactivity in culture. A very low proportion of cultured neurones was immunoreactive for neuropeptide Y and its C-terminal flanking peptide. Neuropeptide Y-like immunoreactive neurones also contained 5-hydroxy-tryptamine-like immunoreactivity in culture, but dopamine beta-hydroxylase-like immunoreactive neurones were not detected. This study is the first description of human intracardiac neurones in culture and forms the essential baseline for further direct investigation of these cells.

Axons↗
PubMed1990

Immunocytochemical studies of cardiac myocytes and other non-neuronal cells of the fetal human heart in culture.

Non-neuronal cell types present in cultures dissociated from the atria and ventricles of human fetal hearts, from 9 to 21 weeks' gestation, were studied using phase-contrast optics and immunocytochemistry. All atrial myocytes and many, if not all, ventricular myocytes observed in culture contained atrial natriuretic peptide-like immunoreactivity. Generally, the atrial natriuretic peptide-like immunoreaction in atrial myocytes was more intense and widespread than in ventricular myocytes. Atrial and ventricular fibroblasts expressed extracellular fibronectin-like immunoreactivity. A population of cells with the appearance and growth properties of endothelial cells was observed in both atrial and ventricular cultures, and was classified as endothelioid since their precise origin was not known. Only a subpopulation of these endothelioid cells contained factor VIII-related antigen immunoreactivity, and some cells that did not display the other growth characteristics of endothelial cells were also factor VIII-related antigen immunoreactive in culture. Glial cells were S-100-like immunoreactive; they were usually more numerous in atrial than ventricular preparations. There was no close association between glial cells and neurones in the atrial cultures.

Atrial Natriuretic Factor↗
PubMed1990

When does death occur in an acardiac twin? Ultrasound diagnostic difficulties.

Fetal acardia is a rare abnormality of multiple pregnancies, which is lethal for the affected fetus and can cause death in 50% of normal co-twins. Antenatal recognition with early ultrasound is essential to institute a prospective management to improve the outcome. Our communication outline the difficulties which may be encountered in ultrasound diagnosis. In particular the problem of distinguishing a fetal heart from large pulsating mediastinal vessels, which can be present in these fetuses, and the difficulty of diagnosing death in an acardiac fetus. Our report confirms that the co-twin remains at increased risk of sudden death, even without ultrasound evidence of cardiac failure or biochemical compromise. The finding in this fetus of intravascular fibrin deposits suggests the possibility of acute disseminated intravascular coagulation, not previously reported in association with an acardiac twin.

Death, Sudden↗
PubMed1989

Visualization of fetal intra-abdominal organs in second-trimester severe oligohydramnios by intraperitoneal infusion.

Fetal intraperitoneal infusion of saline was performed in two patients with severe oligohydramnios at 24 and 25 weeks' gestation in order to enhance visualization of intra-abdominal organs. Renal agenesis was easily diagnosed. The technique can be considered as an alternative to artificial instillation of amniotic fluid in the differential diagnosis of conditions associated with severe oligohydramnios.

Abdomen↗
PubMed1988

Measurements of placental, decidual, and fetal proteins before and after chorionic villus sampling.

Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic villus sampling (CVS) in the first trimester. An elevation of serum AFP levels was consistently seen, while fluctuations in excess of 10 per cent of the pre-CVS levels of SP1 and PP12 were seen in the majority of patients. Fluctuations in hCG and PAPP-A were consistently less than 10 per cent of pre-CVS values. Post-CVS changes in levels were not apparently associated with any feature of the technique, the pregnancy, or its outcome (one missed abortion). As feto-maternal haemorrhage is a common event, anti-D should be offered to rhesus-negative women undergoing CVS. In the prediction of subsequent miscarriage, only hCG and PAPP-A measurements should be considered.

Abortion, Spontaneous↗
PubMed1988

Complement factors in fetal and maternal blood and amniotic fluid during the second trimester of normal pregnancy.

Complement factors (C3, C4, C5; Factors B, H and I) were measured in maternal and fetal serum and amniotic fluid obtained from 55 women with singleton pregnancy undergoing diagnostic fetoscopy at 15 to 28 weeks gestation. Maternal serum levels were consistently 10 times higher than fetal levels which in turn were 10 times higher than levels in amniotic fluid. Spearman rank correlation analysis at weeks 20 to 22 (n = 20) revealed a statistically significant correlation between maternal and fetal levels of C3 and Factors B and I, and between maternal and amniotic fluid levels of Factors B and I. A significant increase in fetal levels of C3, C4 and Factor H, and in amniotic fluid levels of C3 and Factor B was seen in relation to advancing gestational age. These differences were not seen in maternal serum during the short interval of pregnancy studied. These data confirm earlier assumptions of fetal synthesis of complement factors, and provide normal reference ranges of complement factors in fetal blood and amniotic fluid.

Amniotic Fluid↗