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Biomedical subjects

C Donner

Publications and source records attributed to C Donner.

At least 37 records · Page 2Linked to original sources

Multifetal pregnancy reduction: a Belgian experience.

Multifetal pregnancy reductions were performed during the first trimester of pregnancy in 26 patients. Transabdominal intrathoracic KC1 injections were performed in 23 cases, and transcervical aspirations in 3 cases. There were 4 miscarriages (15%) during the second trimester, 18 pregnancies ended in 33 births, 4 pregnancies are going on uneventfully and are beyond 32 weeks. There was no maternal morbidity related to the procedure; fetal morbidity has been mild.

Abortion, Induced

[Chorionic villi sampling: experience of the initial 500 samples].

We report our experience in first trimester antenatal diagnosis since 1984. Transcervical chorionic villus sampling (CVS) was performed in 498 pregnancies. The rate of abnormal pregnancies was 6%, the rate of chromosomal abnormalities (trisomy) in the indication group "maternal age" was 2%. The fetal loss rate (until 28 weeks) was 3.4% (17 cases), the procedure related loss plus the background loss was 2.4% (12 cases). For 92.8% of the patients a diagnosis was available after 1 CVS procedure. Ultimately an antenatal diagnosis was given to 99% of the women through a second CVS procedure or an amniocentesis or a cordocentesis. No maternal complication was observed.

Chorionic Villi Sampling

[Cordocentesis: experience in 391 initial samples].

The first diagnostic cordocentesis was performed in our unit in october 1985. Our 4-year experience is reported: 391 cordocentesis were performed in 360 patients during gestational weeks 14 to 42. The first attempt was successful in 90% of the procedures, 4 samplings failed, there were 4 fetal deaths within one week after diagnostic cordocentesis, one of them appears to be directly linked to the punction. A transient fetal bradycardia was observed in 9.9% of the cases, bleeding occurred in 19% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemopathy, search for paternity, assessment of fetal acid-base status, biochemical dosage. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Chromosome Aberrations

[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

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

[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

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

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

Distribution of apolipoprotein E in the plasma of insulin-dependent and noninsulin-dependent diabetics and its relation to cholesterol net transport.

Noninsulin-dependent diabetics, whose plasma contained no detectable beta-VLDL (very low density lipoprotein), had a proportion (0.23 +/- 0.04) of plasma apolipoprotein E in the form of an abnormal lipoprotein not recognized by antibodies to apoB-100 from LDL (low density lipoprotein) or apoA-I from HDL (high density lipoprotein). This lipoprotein, abnormally rich in free cholesterol and apoE, had a calculated particle density within the low density lipoprotein range. It competed with LDL at the apoB,E receptor of normal fibroblasts and stimulated cholesteryl ester accumulation in mouse peritoneal macrophages. However, it did not compete with the binding of labeled rabbit beta-VLDL to macrophages. A much lower proportion of apoE (0.04 +/- 0.03) was in this form in the plasma of patients with insulin-dependent diabetes who had a comparable degree of hyperglycemia. The diabetic lipoprotein was absent in normoglycemic control subjects. The net transport of cholesterol from cell membranes to the plasma of noninsulin-dependent diabetics (and to a lesser extent, insulin-dependent diabetics) was inhibited relative to control values, and the magnitude of this inhibition was well correlated with the concentration of the abnormal lipoprotein of diabetes in plasma (r = 0.66 and 0.75, respectively). These findings suggest that diabetic plasma contains an abnormal and novel low density lipoprotein that mediates the abnormal cholesterol transport characteristic of human diabetes mellitus.

Apolipoproteins

Cordocentesis for rapid karyotype: 421 consecutive cases.

Between October 1985 and December 1993, 421 patients underwent fetal blood sampling for rapid karyotyping (426 samplings, 5 twin pregnancies). The aim of the study was to evaluate cordocentesis in terms of results, complications and additional information in this specific indication especially in case of abnormal pregnancy sonogram. The fetal loss rate possibly related to fetal blood sampling was 1.9%. Abnormal sonograms represented 91% of rapid karyotype indications. Chromosomal abnormalities were found in 9.5% of abnormal sonograms and in 16.9% of fetal structural anomalies (37 cases). The commonest chromosomal abnormality was trisomy 21 (11 cases). In conclusion, cordocentesis is a safe and reliable method for rapid karyotyping although it is associated with more risks than in other indications (congenital infections). The high rate of chromosomal abnormalities pleaded for ultrasonographic screening in a population usually not investigated by cytogenetic studies.

Adolescent