Prenatal diagnosis of beta-thalassemia: the experience of the Center of Rome.
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Biomedical subjects
Publications and source records attributed to A Pachì.
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The activity of four enzymes, including GOT-1, has been investigated in he erythrocytes of a 10q to 24 qter trisomic fetus. Analyses have been performed on a feto-maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion. The demonstration of a 40 per cent increase of GOT-1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations. Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.
The polyethylene-glicol (P.E.G.) precipitation assay was used to examine the sera of 91 pregnant women, 30 with normal pregnancies, 16 with EPH-Gestosis, 20 with pregnancy complicated by diabetes and 25 with case histories of recurrent abortions, in order to find evidence of eventual circulating immune complexes (C.I.C.). We also examined 30 amniotic fluids from normal pregnant women and 6 from pregnant women with diabetes. Several sera and all amniotic fluids were also examined by rheumatoid factor (RF) - inhibition test. C.I.C. were not discovered in the normal pregnant women neither in their sera nor in their amniotic fluids, while they were found in the following cases: in 8 patients with EPH-Gestosis (50%), in 8 with diabetes (40%) and in 3 with anamnesis positive for recurrent abortions (12%). The 6 amniotic fluid samples from women with diabetes were all negative. We were only able to examine 11 of the 19 positive cases from 4 days to 5 months after delivery and C.I.C. were absent in the sera of all the patients.
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The polyethylene-glycol (PEG) precipitation assay was used to examine the sera of sixty-nine pregnant women, thirty with normal pregnancies, ten with toxaemia of pregnancy, eleven with pregnancy complicated by diabetes and eighteen with case histories of recurrent abortions in order to find evidence of eventual circulating immune complexes (CIC). CIC were not seen in normal pregnancies, but were found in two of the toxaemic group, in two of those with recurrent abortions and in two of those with diabetes. After delivery, these six positive cases were all negative. The presence of CIC may have a determining role in the pathogenesis of some of the cases of the above conditions.
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Eight insulin-dependent non pregnant (IDD-NP), 10 insulin-dependent pregnant (IDD-P) and 9 pregnant control women were studied. During intravenous arginine challenge (ATT) there were lower glucose and higher glucagon plasma levels in the IDD-P when compared to the IDD-NP. IRG levels in response to ATT were also significantly higher in diabetic than in non diabetic control pregnant women. These results seem to indicate that pregnancy in diabetic women, in contrast to that observed in normal women, enhances glucagon secretion with impairment of the physiological mechanism of the facilitated anabolism present in normal pregnancy.
Total hydroxyproline and creatinine concentrations as well as their ratios were determined in 29 amniotic fluid samples from normal pregnancies between the 16th and 20th week of gestation. Total hydroxyproline and creatinine levels, and their ratios, were not statistically different considering either the values at each week or those of the whole 5-week period. Our results, compared with the few others reported in the literature, can provide indications useful for defining the normal range in amniotic fluid, in relation to the weeks of gestation.
Alpha-fetoprotein (AFP) and cholinesterase levels in amniotic fluid were determined and the efficiency of these laboratory tests in the prenatal diagnosis of neural tube defects was examined. Using the AFP test with cut-off levels correlated to gestational age, we have detected 8 cases of neural tube defects and one case of abdominal wall defect in about 1,200 pregnancies; false-negative values were absent. Acetylcholinesterase (AChE) and butyrylcholinesterase activities were measured and the electrophoretic pattern of AChE was examined in 100 amniotic fluid samples. The diagnosis of neural tube defects was always confirmed. There were no diagnostic problems due to blood-contaminated amniotic fluid samples. The results obtained using different quantitative methods for the determination of cholinesterase activity, as well as the potential use of these tests in routine examinations, are discussed.
We have followed up 63 pregnancies in women with autoimmune thrombocytopenic purpura (ATP). Of these, 15 were previously splenectomized. The characteristics of the sample can be summed up as follows: average age 27 years (17-41); platelets at the beginning of pregnancy, mean 129.5 x 10(9)/l (range 16-488); platelets at delivery, mean 133 x 10(9)/l (range 8-477); PA-IgG at delivery, mean 320 ng IgG/10(7) platelets (range 10-1000); SPB-IgG at delivery, mean 262 ng IgG/10(7) platelets (range 10-1000). There were 30 spontaneous deliveries and 33 cesarean sections. Forty-two newborns had a platelet count within the normal range while nine had a platelet count less than or equal to 150 x 10(9)/l, while six had less than or equal to 100 x 10(9)/l and a further six less than or equal to 50 x 10(9)/l. The aim of this study is the evaluation of maternal risk and of possible feto-neonatal thrombocytopenia at birth. In this regard, the following parameters were considered: previous maternal splenectomy; the platelet count at the beginning of pregnancy; the platelet count and the titres of PA-IgG and SPB-IgG at delivery. Preliminary statistical evaluation of these parameters enabled us to identify a risk score. From this it was possible to obtain an optimum management of the final stage of pregnancy regarding the therapeutic approach and the timing of delivery.
OBJECTIVES: To evaluate the possibility that women affected by Hodgkin's disease (HD) during their second or third trimester of pregnancy can safely carry their pregnancy to term. METHODS: From 1986 to 1997, 6 women came to our Center during the second trimester of pregnancy and were diagnosed as having HD. Three of these 6 patients were treated with chemotherapy before delivery and 3 of them were kept under observation and started treatment after delivery. RESULTS: All 6 women gave birth to a healthy female. CONCLUSIONS: The pregnancy does not worsen the course of the illness and does not compromise long-term clinical remission and recovery.
The aim of this work is to evaluate, by means of an alternative method, the fetal lung maturation by means of measurement of the electrical conductivity of the amniotic fluid correlated with the phospholipid content. In vitro measurements were made in some 100 amniotic fluid samples at different gestational stages. A considerable change was observed in the electrical conductivity of the amniotic fluid in the last period of pregnancy, which reflects the increase in phospholipid concentration, when lung maturation is reached. We hope that further investigations, on wider case histories, will enable the application in vivo of the above-mentioned methodology.
Fetal hypoxemia is one of the most frequent causes of intrauterine growth retardation (IUGR). In chronic fetal hypoxia, peripheral blood flow and blood flow to the kidneys is reduced to maintain heart, brain and adrenal perfusion, the 'brain-sparing effect'. In kidneys the cells of the proximal tubules seem to be most sensitive to hypoxia caused by reduced blood flow. Damage to the cells of the proximal tubules can be easily diagnosed by urinary levels of N-acetyl-beta-D-glucosaminidase (NAG), an enzyme present in high concentrations in these cells. The aim of the present study was to define the levels of NAG in the amniotic fluid, to diagnose damage to the cells of the proximal renal tubules in fetuses, and to correlate them with a detectable brain-sparing effect. The study was conducted on a total of 55 pregnancies: 9 pregnancies were complicated by IUGR, and the remaining 46 normal pregnancies formed the control group. Higher levels of NAG were detected in the amniotic fluid from the IUGR-complicated pregnancies (p < 0.025). In particular, fetuses with IUGR had high levels of NAG in the amniotic fluid in 8 of 9 cases (+ 2 SD compared with controls), while 1 had normal concentrations. In the 8 cases with high concentrations of NAG in the amniotic fluid, velocimetric Doppler study documented a brain-sparing effect, which was not present in the 1 fetus with normal NAG levels. In conclusion, high levels of NAG in the amniotic fluid may identify in uterus fetuses with renal damage.(ABSTRACT TRUNCATED AT 250 WORDS)
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