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F Rodesch

Publications and source records attributed to F Rodesch.

At least 55 records · Page 3Linked to original sources
PubMed1990

[The value of prenatal chromosomal diagnosis in cases of fetal abnormalities: results obtained in 468 pathological pregnancies].

The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.

Chromosome Aberrations↗
PubMed1989

Diagnostic cordocentesis: two years of experience.

The first diagnostic cordocentesis was performed in our unit in October 1985, our 2-year experience is reported. 144 samplings were performed in 137 patients (139 fetuses - 2 patients had twin pregnancies) during gestational weeks 14 to 42. The first attempt was successful in 80% of the procedures, 4 samplings failed. There were no fetal deaths within 3 days after diagnostic cordocentesis, a transient fetal bradycardia was observed in 12.2% of the cases, bleeding occurred in 13.6% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemophilia A, alloimmunisation, search for paternity, assessment of fetal acid-base status. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Blood Specimen Collection↗
PubMed1989

[Ultrasonic study of the single umbilical artery syndrome. A series of 80 cases].

The authors report on 80 cases of the syndrome of a single umbilical artery (SUA) and compare the anatomo-clinical features with the abnormalities found on ultrasound. The clinical results confirm the information given in the literature which is that there is a higher incidence of poor intra-uterine fetal growth (36.4%), of prematurity (16.3%), of associated congenital abnormalities (42%) and of perinatal mortality (21.3%). Ultrasound examination makes it possible to screen for associated major fetal malformations (26.6%) and of most cases of intra-uterine growth retardation (28.3%). The ultrasound detection of the absence of one of the umbilical arteries and of the associated fetal abnormalities together with the techniques for sampling fetal cells now causes change in the approach to these high risk pregnancies on the cytogenetic level as on the perinatal handling of this syndrome.

Adolescent↗
PubMed1989

[Perinatal research on feto-maternal anti-Kell immunization].

Three cases of pregnancies complicated by feto-maternal anti-Kell iso-immunisation are presented, as well as a review of the literature. The evolution of new techniques for antenatal diagnosis has made it possible to have a new approach to this fetal pathology. Chorionic villus biopsy can be carried out in the first trimester of pregnancy when there has previously been a serious incidence of anti-Kell immunisation with a couple where the husband is heterozygous for the Kell antigen. In the second and third trimesters the surveillance of the patient is essentially dependent on ultrasound examination of the fetus and placenta, which makes it possible to detect hydropic changes, and also depends on blood sampling from the cord which makes it possible to assess by direct measurement the degree of fetal anaemia. Now pulsed Doppler must be added to these classical diagnostic techniques because it allows a gross estimation of fetal haematocrit levels.

Adult↗
PubMed1989

Pathologic aspects of the umbilical cord after percutaneous umbilical blood sampling.

Percutaneous umbilical blood sampling (cordocentesis) appears to be a valuable new procedure for prenatal diagnosis. In order to evaluate whether focal injury of the umbilical vessels caused by the needle puncture is potentially harmful, we completely examined 50 umbilical cords collected between 1 hour and 20 weeks after cordocentesis. Macroscopic evidence of the needle entry was found in 37 cases, including one giant hematoma of the cord. Within 48 hours after the procedure, microscopic examination of transverse sections taken at the puncture site revealed distinct perforation of the vessel wall, associated in four cases with a small hematoma encircling the vessel. One week after cordocentesis, the vessel wall was partially reformed. There were no histologic differences between needle entry in a vein or in an artery. No thromboses of the umbilical vessels were found.

Blood Specimen Collection↗
PubMed1988

Umbilical cord pseudocyst in trisomy 18.

Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishing the karyotype in fetuses with such umbilical cord anomalies and the importance of careful examination of placentas and infants born with such defects.

Adult↗
PubMed1988

Carrier prediction of cystic fibrosis in 36 families by means of restriction fragment length polymorphism.

Transmission of cystic fibrosis (CF) was studied in 36 families with at least one affected and one unaffected child. DNA was prepared from peripheral leukocytes and submitted to restriction fragment length polymorphism (RFLP) analysis with two CF probes (pj3.11 and met). Twenty families were shown to be informative so that accurate predictions could be made of the status of the offspring. Sixteen were only partially informative. The allele frequency was similar to that originally reported except for one Msp I site detected with the pj3.11 probe, for which we found a significantly higher heterozygote frequency, making it more informative than expected in our population sample. Pedigree analysis demonstrated no obligate recombinant between CF and the polymorphic markers.

Cystic Fibrosis↗
PubMed1988

Clinical and morphologic aspects of the vanishing twin phenomenon.

The pathologic findings in placentas from ten multiple gestations complicated by the so-called vanishing twin phenomenon were studied to confirm the ultrasonographic evidence. Five pregnancies resulted from in vitro fertilization and embryo transfer, and five conceptions were spontaneous. The pregnancies were studied by repeat ultrasound examinations between five and 12 weeks' gestation. First-trimester bleeding was the only clinical sign of this phenomenon. Postpartum evidence of the vanishing twin phenomenon was found in five cases. Morphologically, the lesions were characterized by well-delineated plaques of perivillous fibrin deposition, associated in one case with embryonic remnants. This focal degenerative change of the placental mass, which also exists in about 25% of placentas from uncomplicated term pregnancies, may be the only clue to the disappearance of one conceptus.

Female↗
PubMed1987

Regulation of calcium fluxes in the thyroid.

Calcium (Ca2+) exchanges were studied in dog thyroid slices incubated in vitro. With 45Ca2+-prelabeled slices, carbamylcholine 10(-7)-10(-5) M (Cchol) induced an important transitory spike efflux, inhibited by procaine and atropine while the stimulated efflux obtained with high concentrations of TSH (10 mU/ml) was progressive and sustained over time. The effects observed with both agents did not require extracellular Ca2+ and were insensitive to verapamil 10(-6)-10(-4) M. Neither dibutyryl (Bu2)-cAMP, nor any agent raising intracellular cAMP (prostaglandin E2, choleratoxin, inhibitors of phosphodiesterases with low concentrations of TSH) were able to reproduce the action of TSH 10 mU/ml, forskolin 10(-5) M being the only exception. Replacement of sodium by choline (+ atropine) in the incubation medium decreased the basal efflux and inhibited the TSH effect. Ouabain 10(-3) M also abolished the TSH-induced Ca2+ efflux, while having no influence on carbamylcholine action. TSH 10 mU/ml and 1 mU/ml, Bu2-cAMP 10(-3) M, choleratoxin and prostaglandin E2 with inhibitors of phosphodiesterase decreased the total 45Ca2+ uptake of the slices, while no effect of Cchol could be detected on this parameter. The results obtained suggest that (1) Cchol and TSH stimulate 45Ca2+ efflux from dog thyroid slices with different kinetics, by mobilization of intracellular Ca2+ stores; (2) this effect of TSH is not mediated by cAMP; (3) independently TSH at low concentrations (1 mU/ml), through cAMP, decreased 45Ca2+ uptake; this suggests that increased 45Ca2+ efflux and decreased uptake result from different mechanisms, as has been described for iodide exchange in FRTL-5 cells.

Adenylyl Cyclases↗
PubMed1986

Antenatal diagnosis of pulmonary tumours: report of two cases.

We report two cases of antenatal diagnosis of pulmonary tumours. In one case a bronchogenic cyst was connected with the bronchopulmonary tree and grew rapidly after birth. Thanks to the antenatal diagnosis, it was resected before any complication appeared. In the second case, congenital cystic adenomatoid malformation of the lung was associated with fetal anasarca. Initially cyst aspiration was carried out; then long-term drainage was attempted. These cases illustrate the impact of antenatal diagnosis on perinatal management.

Adult↗
PubMed1986

Pathological pregnancies. Results of amniotic fluid studies and fetal outcome.

Late amniocenteses (greater than 20 weeks' gestation) were performed in 114 pregnancies with no a priori genetic risk, but referred because of abnormal clinical and/or ultrasound findings suggesting fetal malformations. Reasons for referral included polyhydramnios (51 cases), oligohydramnios (15 cases), fetal growth retardation (FGR) (16 cases) and abnormal fetal ultrasound findings excluding anencephaly (32 cases). In 42 of these cases, referral was motivated by a combination of the above abnormal findings. When polyhydramnios was the sole anomaly (25 cases), 5 fetuses were malformed (20%), abnormal fetal karyotype and/or elevated amniotic fluid alphafetoprotein (AFP) were demonstrated in 2 cases. Oligohydramnios was the sole anomaly in one case; the infant died of prematurity. Fetal growth retardation was the sole anomaly in 14 cases, 11 otherwise normal newborns were small for date, 2 died at birth and 1 was malformed (1/14, 7%). In this group all fetal karyotypes were normal and in 2 cases amniotic fluid AFP were increased. In the 32 pregnancies without abnormal amniotic fluid volume and/or FGR and with fetal malformation(s) suggested by ultrasound, all malformations except one (ovarian cyst possibly ruptured during birth) were confirmed at birth, amniotic fluid AFP was elevated, and/or karyotype was abnormal in 6 cases. In 42 pregnancies where more than one alarm sign was present, abnormal karyotype and/or elevated amniotic fluid AFP level were recorded in 21 of the 39 cases where amniocentesis was performed, 33 fetuses were malformed (79%) and 13 died in the perinatal period (31%). The high incidence of abnormal results of amniocentesis found in this survey of pathological pregnancies, particularly in those with multiple alarm signs, emphasizes the need for amniocentesis in these situations.

Congenital Abnormalities↗
PubMed1986

[Echographic evaluation of non-immunologic feto-placental anasarca. A series of 24 cases].

24 cases of non-immune feto-placental hydrops which were diagnosed by ultrasonography are presented. The precise etiology was possible in 21 of the cases using chromosome analyses, radiological assessments and carefully conducted post mortem examinations. The cause was maternal in 3 cases and due to fetal pathology in 18 cases, of which 5 were due to chromosome abnormalities. Three recessive autosomal syndrome, 9 malformations and in particular cardiac malformations and one twin pregnancy with transfusion from one fetus to the other were diagnosed. These features, which can be compared with those already in the literature, show that most of these cases of hydrops are due to genetic fetal defects and demonstrate how important it is to carry out chromosome analyses and systematic anatomo-pathological investigations. The results of these tests will indicate the way the doctors should look after the mother during pregnancy and how to deliver these mothers in subsequent pregnancies.

Adolescent↗