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Biomedical subjects

B Brambati

Publications and source records attributed to B Brambati.

At least 91 records · Page 5Linked to original sources
PubMed1986

Feto-maternal transfusion after chorionic villus sampling: clinical implications.

Feto-maternal transfusion following chorionic villus sampling (CVS) in the first trimester of pregnancy was evaluated by alpha-fetoprotein (AFP) level determination in maternal serum before and after sampling. Some fetal haemorrhage was suggested in 72% of 283 continuing pregnancies by a significant increase of maternal AFP level. Fetal bleeding appeared to stop a short time after CVS, and did not complicate detection of neural tube defects (NTDs) in the second trimester. The change in the maternal serum AFP level was correlated with the size of the chorionic tissue specimen, but no association was observed between fetal and neonatal outcome. The risk of maternal rhesus (Rh) iso-immunization must be taken into account, and anti-D immunoglobulin administrated after CVS. Maternal Rh immunization should be considered as a contraindication to CVS.

Biopsy↗
PubMed1985

First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.

Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be highly efficient, with a diagnostic success rate of 97.7%. In the light of our experience we suggest that CVS is best performed between the 9th and 10th weeks of pregnancy. The average weight of the aspirated specimen was 20 mg with a lower limit of 5 mg which proved sufficient for diagnostic purposes. No major maternal complications were encountered and the slight bleeding observed in 14% of the cases during the days following the CVS should be considered a harmless effect of the aspiration technique. The proportion of fetal losses may lie between 4 and 7%. Paediatric monitoring of the 93 infants born so far and ultrasound examination of the pregnancies still in progress at the time of writing did not reveal any negative effect of CVS. Fetal-maternal transfusion and intrauterine infection are problems which need further basic investigations.

Adult↗
PubMed1984

Diagnostic application of first trimester trophoblast sampling in 100 pregnancies.

The results of the diagnostic application of first trimester trophoblast sampling in 100 pregnancies are reported in detail. Further improvement of the method for routine, direct chromosome analysis resulted in a technique which proved to be fast, simple, and efficient. We found that short-term incubation of villi permits the application of many experimental methods, such as visualization of sister chromatid exchanges and bromodeoxyuridine (BrdU) incorporation. Fetal karyotyping was successful in each of the 96 pregnancies in which fetal material was obtained from a total of 98 fetuses. There were 42 males and 56 females, and an abnormal chromosome constitution was found in 12 cases. Two trisomic fetuses were found among the eight pregnancies at risk for Duchenne muscular dystrophy, and this indicates that fetal sexing (which is achieved with our method in two hours) should not be performed without chromosome visualization. The results indicate a risk of 8% of an abnormal fetus for mothers aged 35 years or more, while the risk of failure of sampling and of spontaneous abortion after villi sampling were 4 and 6%, respectively. Enzyme determinations were performed in three pregnancies at risk for gangliosidosis GM1, Niemann-Pick disease, and Hurler syndrome. In this last case inconsistency between the results of the assay of iduronidase on chorionic villi and amniotic fluid cells was found. This unexplained error indicates the need for extensive characterisation in chorionic villi of the series of enzymes involved in metabolic diseases.

Adult↗
PubMed1984

First trimester fetal karyotyping in twin pregnancy.

Fetal chromosome analysis in a twin pregnancy during the first trimester is described. Problems of the reliability of tissue sampling are also discussed. The authors emphasise the advantage of direct cytogenetic analysis from the tissue specimens used for enzyme determination or DNA studies.

Female↗
PubMed1984

Calcium and magnesium content in fetuses at risk and prenecrotic Duchenne muscular dystrophy.

We measured calcium (Ca) and magnesium (Mg) content in muscles of fetuses at risk of Duchenne muscular dystrophy (DMD) and in a premature infant who later developed typical DMD. There was a three- to six-fold increase in muscle Ca in the fetuses and in the premature infant. In contrast to our previous reports of reduced muscle Mg in DMD children, there was an 18 to 57% increase of Mg in the fetuses at risk. Opaque and Ca-positive fibers, rarely observed in normal fetuses, were numerous in fetuses at risk and in the premature infant. No necrotic fibers were detected in the fetuses or the premature infant. These findings suggest that excessive Ca accumulation precedes necrosis in DMD. Other factors related to growth and development that occur after birth may trigger the necrosis that follows muscle Ca accumulation.

Calcium↗
PubMed1984

Antenatal diagnosis of haemoglobinopathies by improved method of isoelectric focusing of haemoglobins.

An improved method of isoelectric focusing (IEF) of haemoglobins, utilizing a spacer molecule to increase the separation between HbA and acetylated HbF, was carried out in parallel with carboxymethylcellulose (CMC) chromatography in 85 antenatal diagnoses for haemoglobinopathies (mainly thalassaemia). In 19 of 21 affected fetuses no HbA band was detectable on IEF while in two a very faint band was observed; in heterozygotes or normal fetuses a more obvious HbA band was present. Moreover, IEF was useful for the demonstration of HbLepore in two cases at risk for beta-thalassaemia/ HbLepore and for interpreting a radioactive pre-beta globin peak on CMC chromatography. Pure fetal blood is needed for IEF. It can therefore be used for most cases in centres using fetoscopy for fetal blood sampling. About 80% of antenatal diagnosis of haemoglobinopathies may be carried out by IEF which is a very simple, rapid and inexpensive method.

Female↗
PubMed1983

Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy.

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.

Amniotic Fluid↗
PubMed1983

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.

Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate); (2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases.

Catheterization↗
PubMed1983

The significance of indirect electrocardiography in fetal cardiac arrhythmias.

A unique case in which a tentative diagnosis of congenital heart disease was made by fetal ECG is presented. A new averaging technique allowed an accurate analysis of the QRS complexes obtained from the maternal surface. This is the first case of fetal arrhythmias in which an early prenatal diagnosis of an anatomical lesion of the heart was suspected by reason of an abnormal fetal ECG and confirmed clinically at birth.

Adult↗
PubMed1982

Difficulties in "real-time" ultrasound diagnosis of fetal urological anomalies.

In the fetus of a diabetic woman, at the 24th week of pregnancy urological anomalies (cystic kidney malformations) were found with real-time ultrasound. At the 34th week these findings were confirmed and interpreted to be due to a lower urinary obstruction. Therefore a preterm Caesarean section was performed. In the newborn the left multicystic kidney was removed. The indications for the US screening in pregnancy and difficulties in the interpretation of urological findings of fetal and newborn ultrasonograms are discussed.

Female↗
PubMed1982

Intraventricular conduction time in fetuses born with growth retardation.

Averaged QRS complexes were studied in 26 pregnancies characterized by fetal growth retardation. A high correlation was found between QRS duration and infant birthweight and the QRS interval closely reflected the abnormal cardiovascular conditions that occur in the malnourished fetuses. QRS determination provides a complementary and accurate method to detect and assess an inappropriately growing fetus.

Birth Weight↗