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Biomedical subjects

C Rodeck

Publications and source records attributed to C Rodeck.

At least 55 records · Page 3Linked to original sources
PubMed1997

Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy.

OBJECTIVE: To evaluate the etiology and outcome of fetal hydrops of nonimmune origin diagnosed in utero during the first half of pregnancy. METHODS: We reviewed 45 cases of nonimmune fetal hydrops presenting between 11 and 17 weeks' gestation over a 4-year period. RESULTS: The median gestational age at diagnosis of fetal hydrops was 14 weeks. Placental edema was most commonly associated with generalized skin edema. Ascites was also observed in four cases, but no case presented with pleural or pericardial effusion. The fetal karyotype was abnormal in 35 cases (77.8%). Of the ten fetuses with a normal karyotype, four were classified as idiopathic, three had isolated atrioventricular septal defect, two were associated with maternal infection, and one had multiple pterygium. Fetal heart rate anomalies were found in both chromosomally normal and abnormal fetuses. All but one of the karyotypically abnormal pregnancies and five of ten euploid pregnancies were terminated. In all six pregnancies that continued, resolution occurred before mid-gestation. Three continuing euploid pregnancies resulted in fetal death, and only two had a normal outcome. CONCLUSION: Nonimmune fetal hydrops diagnosed before 18 weeks' gestation is associated with a higher incidence of aneuploidy than hydrops diagnosed during the second half of pregnancy. In most affected fetuses with a normal karyotype, spontaneous resolution occurred before 24 weeks' gestation, although the outcome was generally unfavorable.

Adult↗
PubMed1997

Antecedent circumstances surrounding neural tube defect births in 1990-1991. The Steering Committee of the National Confidential Enquiry into Counselling for Genetic Disorders.

OBJECTIVE: To investigate births with neural tube defects at a time when most districts were screening for the condition. The objective was to document the circumstances surrounding each affected birth and assess the care provided against given standards. DESIGN: Retrospective review of antenatal casenotes by the obstetric team. POPULATION: Three hundred and eight births in England and Wales in 1990 to 1991 were reported to the Office of Population Census Survey (OPCS) to involve neural tube defects. Sufficient information was available to identify both the woman and the obstetrician in 213 pregnancies. Details were obtained from a questionnaire completed by the obstetric team for 168 (79%). In 20/168 cases either the reported outcome was not a live birth/stillbirth or the pregnancy did not involve a neural tube defect: eight resulted in a 'normal' infant, eight were terminated and in four the abnormality was not a neural tube defect. Thus 148 eligible cases were available for analysis. RESULTS: Of the 148 births, the anomaly was not detected prenatally or detected later than 25 weeks of gestation in 98 cases (66%), diagnosed in a multiple pregnancy in 24 (16%) and diagnosed prenatally but the woman chose to continue the pregnancy in 26 (18%). Of the 98 births not detected prenatally or detected late during pregnancy, the surrounding circumstances were that screening was declined in six cases (4%), screening was not offered due to late booking in 30 (20%), serum alpha-fetoprotein screening gave a false negative result in eight (5%), ultrasound screening gave a false negative result in 29 (20%), both screening methods gave false negative results in 17 (11%) and other reasons in eight (5%). The estimated sensitivity of ultrasound screening for anencephaly was 100%. For spina bifida the estimated sensitivity for singleton pregnancies is higher for serum alpha-fetoprotein screening, 84% to 92%, than ultrasound screening, 70% to 84%, for a range of assumptions regarding the degree of under-reporting to OPCS of live births and terminations. CONCLUSIONS: Late booking precluded the offer of screening tests in a substantial proportion (22%) of cases. The presence of multiple fetuses including one or more with a neural tube defect was a serious additional complication in prenatal screening, diagnosis and counselling. Screening for neural tube defects was widespread in 1990 to 1991, although variations in the services provided were documented. Ultrasound scanning was a major component but was associated with a lower sensitivity than maternal serum alpha-fetoprotein screening for neural tube defects other than anencephaly.

Anencephaly↗
PubMed1997

Use of oral misoprostol in the prevention of postpartum haemorrhage.

OBJECTIVE: To investigate the use of the oral prostaglandin E1 analogue, misoprostol in the prevention of postpartum haemorrhage. DESIGN: A prospective observational study. SETTING: A university teaching hospital. PARTICIPANTS: Two hundred and thirty-seven consecutive women undergoing vaginal delivery. METHODS: All the women were given 600 micrograms oral misoprostol just after delivery. MAIN OUTCOME MEASURES: Rates of postpartum haemorrhage; need for therapeutic oxytocic drugs; retained placenta and length of the third stage of labour. RESULTS: Postpartum haemorrhage occurred in 6% of the women; the need for therapeutic oxytocics in 5%, retained placenta in 2% and the median length of the third stage was 5 min. Vomiting and diarrhoea in the first hour after delivery occurred in 8% and 3% respectively and shivering in 60%. CONCLUSIONS: Misoprostol may be effective in the prevention of postpartum haemorrhage, and has few side effects. A double blind randomised trial is required.

Administration, Oral↗
PubMed1997

Prenatal detection of fetal aneuploidies using transcervical cell samples.

In the course of an investigation aimed at detecting the presence of trophoblastic cells in the endocervical canal of pregnant women between 7 and 17 weeks of gestation, several cases of aneuploidies were observed using a fluorescent in situ hybridisation (FISH) assay. The cases include fetal chromosome 21 and 18 trisomies, triploidy and sex chromosome aneuploidies. The results were confirmed by testing placental tissues obtained after termination of pregnancy (TOP). In two of these cases, clumps of cells with the morphology of trophoblasts were isolated from the transcervical cell (TCC) samples using micromanipulation. FISH and fluorescent polymerase chain reactions (PCR), performed on these clumps, showed them to be exclusively of fetal origin. These results show that prenatal diagnoses of major aneuploidies can be performed by FISH using whole TCC samples, or on isolated clumps of cells by FISH and PCR assays.

Adult↗
PubMed1996

Fetal medicine in an unselected pregnant population.

To determine the proportion of an unselected pregnant population referred to a Fetal Medicine Unit, we undertook an observational time-limited cohort study. Of 530 pregnant women booked for delivery at our hospital and with a local postcode in the local District Health Authority, 81 (15.3%) were referred to the Fetal Medicine Unit at least once. The average number of fetal medicine visits was 1.5, a rate of 22 per 100 pregnancies. The indications for referral were assessed as appropriate for all but 2 cases. In 3 cases (0.6%), major genetic diseases were prevented by termination of pregnancy.

Adult↗
PubMed1996

Prenatal diagnosis of triploidy during the second trimester of pregnancy.

OBJECTIVE: To analyze the results of prenatal findings and the outcome of triploidy and to organize an efficient approach to prenatal diagnosis during the second trimester. METHODS: We reviewed 70 cases of triploidy presenting between 13 and 29 weeks' gestation over a 10-year period. RESULTS: Each fetus had at least one measurement below the normal range, and 50 cases (71.4%) presented with asymmetrical growth restriction and normal placental appearance. All cases of triploidy associated with partial mole were diagnosed before 25 weeks. Structural fetal defects were observed antenatally in 65 (92.9%) cases. The most common defects were abnormalities of the hands (52.3%), bilateral cerebral ventriculomegaly (36.9%), heart anomalies (33.8%), and micrognathia (26.2%). The most frequent combination of abnormalities was malformation of the hands and ventriculomegaly. Decreased red blood cell counts and high mean cell volume were found in the 50 cases tested. Vaginal bleeding in the first or second trimester was the most common maternal symptom reported. CONCLUSIONS: The major features that should alert the sonographer to the possible diagnosis of triploidy are partial molar changes or severe asymmetrical fetal growth restriction in the presence of an apparently normal placenta.

Adult↗
PubMed1995

Molecular evidence of fetal-derived chromosome 21 markers (STRs) in transcervical samples.

Transcervical cells (TCCs), collected by flushing or aspiration at 8-13 weeks of gestation, were analysed for the presence of fetal-derived DNA sequences. DNA extracted from maternal peripheral blood, TCC samples, and placental tissue was amplified by the polymerase chain reaction (PCR) to detect small tandem repeat (STR) markers specific to chromosome 21. STR products of fetal origin could be clearly observed in four TCC samples. TCC samples collected by flushing or aspiration were also analysed by fluorescent in situ hybridization (FISH) using X and Y probes simultaneously: 46,XY cells could be detected in all TCC samples obtained from mothers with male fetuses.

Base Sequence↗
PubMed1995

Methods for the transcervical collection of fetal cells during the first trimester of pregnancy.

Before termination of pregnancy, four techniques for retrieving fetal cells transcervically were investigated: uterine lavage, endocervical lavage, cytobrush and mucus aspiration. The yield of fetal cells in these samples was studied and found to be somewhat better after uterine lavage. A preliminary assessment of the safety of mucus aspiration was carried out before transcervical chorionic villus sampling (CVS) in continuing pregnancies. No difference in outcome to a control group having only CVS was found.

Biopsy↗
PubMed1995

Detection of fetal cells in transcervical samples and prenatal diagnosis of chromosomal abnormalities.

Transcervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y-derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21-derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.

Cell Separation↗
PubMed1995

Isolation of fetal cells from transcervical samples by micromanipulation: molecular confirmation of their fetal origin and diagnosis of fetal aneuploidy.

Transcervical cell (TCC) samples have been shown to contain fetal cells amenable to molecular analysis. However, the presence of 'contaminating' maternal cells limits their use for prenatal diagnoses. In this report we show that clumps of fetal cells can be isolated from transcervical samples by micromanipulation and tested by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Out of 129 clumps, isolated from mucus aspirates and transcervical lavages from 29 patients, 29 clumps from 11 patients were found to be exclusively of fetal origin as judged by the detection of chromosome 21-specific polymorphic DNA markers and Y-derived DNA sequences by PCR and FISH. One case of a male triploid fetus, diagnosed by the analysis of TCC samples obtained by mucus aspiration and lavage, was confirmed by testing clumps of cells isolated by micromanipulation.

Aneuploidy↗
PubMed1995

Immunohistochemical characterization of cells retrieved by transcervical sampling in early pregnancy.

Trophoblastic cells can be retrieved from the endocervix and the lower uterine segment in early pregnancy by aspiration or lavage (Rodeck et al., 1995). The feasibility of using this technique for prenatal diagnosis depends on how frequently fetal cells can be retrieved and whether such cells can be purified from the predominant maternal cell population. In this study, specimens retrieved from the lower uterine segment prior to elective first-trimester termination of pregnancy were examined histologically and characterized using a panel of monoclonal antibodies in an avidin-biotin-peroxidase technique. Lavage samples generally contained fewer cervical epithelial cells than aspirates. Syncytial fragments or cytotrophoblast were identified in 9 of 12 lavage samples but in only 4 of 10 aspirates. Trophoblast cells were reactive with various anti-trophoblast monoclonal antibodies but the trophoblast cells present displayed considerable antigenic heterogeneity. For positive selection of trophoblast cells from these samples, it is likely that the best yield will be achieved by using a panel of carefully characterized monoclonal antibodies directed against various villous and extravillous trophoblast populations.

Antibodies, Monoclonal↗
PubMed1995

Detection of trophoblast cells in transcervical samples collected by lavage or cytobrush.

OBJECTIVE: To compare two methods of obtaining fetal cells from the endocervical canal for prenatal diagnosis during the first trimester: lavage with physiologic saline, and the endocervical passage of a cytobrush. METHODS: Fetal cells were identified morphologically using conventional and immunohistochemical staining. Y-specific sequences were detected using polymerase chain reaction (PCR) and fluorescent in situ hybridization. The presence of fetal DNA was also demonstrated by PCR amplification of a polymorphic short tandem repeat marker. RESULTS: Syncytiotrophoblast cells were identified in four of 11 lavage samples and in one of 11 brush samples. Sex determination using fluorescent in situ hybridization was achieved in all 11 lavage samples and in nine of 11 cytobrush samples; no Y sequences were located in two brush samples from male embryos. Sex determination was achieved successfully in all 22 samples using PCR of X- and Y-specific DNA sequences. Small tandem repeat pattern analysis indicated the presence of fetal DNA in five of 11 lavage samples and in one of eight cytobrush samples, which were informative because the maternal and fetal small tandem repeat patterns differed. CONCLUSION: Although lavage retrieves more trophoblast cells than does brushing, both methods are potentially suitable for molecular prenatal diagnosis.

Female↗
PubMed1994

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.

A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. The deletion/insertion mutation found [3351del4, 3350insA] resulted in an Asn102-->Lys substitution and the removal of codon Gly103. First trimester prenatal diagnosis was performed in a subsequent pregnancy by chorionic villus sampling and PCR/direct sequencing; the foetus was shown to be heterozygous for the lesion. This diagnosis was confirmed phenotypically after the birth of a clinically healthy child.

Base Sequence↗