ABSTRACT
OBJECTIVES: The risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs) has been estimated only on limited empirical data. The aim of the study was to verify the estimate of the general risk, to get narrower confidence intervals by cumulating the data and to obtain risk estimates for specific translocation types. METHODS: We tested for UPD 160 prenatal specimens referred to the participant centers after the cytogenetic finding of NHRT. RESULTS: One case of upd(14)mat was found, associated with a 45,XX,der(14;22)mat fetal karyotype. The general empirical risk of UPD occurrence in NHRT carrier fetuses, corrected for the actual number of chromosomes analyzed, was 0.76% (95% CI 0.02-4.25%). Cumulative data with previous studies gives a general risk of UPD associated with NHRT of 0.80% (95% CI 0.17-2.34%). The UPD risk for the specific NHRT der(13;14) did not significantly differ from that of the other NHRTs taken together. CONCLUSION: The present survey confirms the previously estimated risk of occurrence of UPD in offspring of NHRT carriers as a low, but not negligible risk, worth being investigated in prenatal diagnosis.
Subject(s)
Prenatal Diagnosis , Translocation, Genetic/genetics , Uniparental Disomy/genetics , Amniocentesis , Birth Weight , Female , Gestational Age , Humans , Infant, Newborn , Italy , Male , Maternal Age , Middle Aged , Pregnancy , Premature Birth , Risk FactorsABSTRACT
Cytogenetic data about 145 chorionic villus samples obtained between the 13th and 35th week of gestation are reported. 'Late' chorionic villus sampling (CVS) was used to resolve different situations: failed amniotic fluid cell cultures (5 cases); confirmation of an abnormal karyotype, previously diagnosed as mosaic (14 cases); and ultrasound fetal malformation (23 cases). Most of the samples (103 cases) were analysed for the classical indications and in these cases, the principal aim was to obtain a rapid fetal karyotype. Excluding the cases used to check fetal karyotype, a chromosomal aberration was found in 11 out of 131 biopsies. In four cases of the group in which the fetal karyotype was checked (14 cases), the pathology observed at the first diagnosis was confirmed, while in the remaining ten cases the anomaly was not observed.
Subject(s)
Chorionic Villi Sampling , Chromosome Aberrations/diagnosis , Cytogenetics , Prenatal Diagnosis , Chromosome Disorders , Congenital Abnormalities/diagnosis , Female , Humans , Karyotyping , Mosaicism , Pregnancy , Ultrasonography, PrenatalABSTRACT
Authors have analyzed the antiarrhythmic effect of oxprenolol, a beta blocking agent, in the treatment of various types of arrhythmias and in the prophylaxis of recurrences of auricular flutter and fibrillation. The results obtained in a group of 68 cases of different arrhythmias may be summarized in the following way: a) the drug efficiently reduces the ventricular rate in sinus tachycardia and in atrial flutter and fibrillation with high ventricular rate, even if resistant to treatment with digitalis; b) in patients with asynchronous pacemaker oxprenolol leads to disappearance or an important reduction of competitive rhythms; c) in supraventricular paroxysmal tachycardias the results are positive in the majority of cases (while on the contrary in 2 cases of ventricular tachycardias the drug was not effective). A group of 116 cases with auricular flutter or fibrillation (in which sinus rhythm had been restored with quinidine or cardioversion has been analyzed to study the prophylactic activity of oxprenolol in these arrhythmias. The cases have been divided at random into two groups and have been treated with quinidine (g 0.80 p.d.) or with an association of oxprenolol (mg 60 p.d.) and quinidine (g 0,60 p.d.). The observation period varied from a minimum of 1 month to a maximum of 3 years and 3 months. The curves showing the percentage of persistance of sinus rhythm in the two groups were very similar and after 3 years and 3 months 100% of patients observed presented a recurrence of arrhythmias.