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Biomedical subjects

R Morandi

Publications and source records attributed to R Morandi.

9 recordsLinked to original sources
PubMed1998

B19 parvovirus induced fetal hydrops: rapid and simple diagnosis by detection of B19 antigens in amniotic fluids.

In our study we describe the direct detection of parvovirus B19 capsid antigens in amniotic fluid samples for the rapid and simple prenatal diagnosis of B19 induced fetal hydrops. The assay was performed on amniotic fluid specimens from fetal hydrops dotted on nylon membranes. The two capsid antigens, VP1 and VP2, which represent four per cent and 96 per cent of the capsid, respectively, were detected using a pool of monoclonal antibodies directed against these two proteins and the complex was visualized by immunoperoxidase staining. The assay could be performed in about four hours and positive results were revealed at the end of the reaction as dark blue spots on the nylon membrane. We analysed 26 amniotic fluid samples from 26 selected cases of non-immune hydrops for the presence of B19 antigens. Out of these 26 samples, 13 had previously proved positive for B19 DNA, detected by dot blot hybridization and/or in situ hybridization and/or nested PCR, and 13 had proved negative. The results obtained with our assay were compared with results obtained for the presence of B19 DNA and a close agreement was found. The method is simple and rapid to perform, does not require costly instruments, and all the reagents used in the assay are commercially available. The assay described can thus be useful for a prompt counselling and management of B19 fetal infection.

Amniotic Fluid↗
PubMed1998

Intra-uterine parvovirus B19 infection and meconium peritonitis.

B19 fetal infection has been associated with hydrops or fetal death. We report four cases of meconium peritonitis in hydropic fetuses with laboratory diagnosis of B19 infection. Parvovirus B19 DNA was detected by in situ hybridization both in cord blood and in amniotic cells in three fetuses, while in one case only cord blood was available and proved positive. Signs of active or recent B19 infection in maternal serum samples were documented only in two cases, which proved positive for specific IgM antibodies anti-B19. Maternal B19 infections were asymptomatic and fetal anomalies were observed during a routine ultrasound scan. A common feature of the hydropic fetuses was the presence of abdominal ascites concomitant with or preceding alterations, suggesting meconium peritonitis. The four pregnancies had a preterm outcome: in two cases infants recovered following surgical treatment, in one case spontaneously, and the other one was stillborn. Since vascular inflammation has been documented in B19 infection and congenital bowel obstruction results from vascular damage during fetal life, our observation suggests the need for investigating B19 infection in the presence of meconium peritonitis for a better understanding of the pathogenetic potential of B19 parvovirus in intra-uterine infection.

Adult↗
PubMed1997

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.

Alport's syndrome (AS) is a clinically and genetically heterogeneous progressive inherited glomerulonephritis characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific alterations of the glomerular basement membrane. Typically, AS shows an X-linked dominant pattern of inheritance, with mutations affecting the collagen type IV alpha5 chain gene (COL4A5) at Xq22. Rarely, AS is caused in some families by mutations of the COL4A3/A4 genes on chromosome 2q, showing an autosomal recessive transmission. Very few families have been described with possible autosomal dominant AS, but no mutations in any of the COL4 genes have been found. We describe three unrelated families affected with a severe AS phenotype in which DNA-based prenatal diagnosis by linkage analysis was made in fetuses at risk for the disease. In two families, the pedigree structure and the clinical picture were consistent with typical X-linked dominant AS. In these families, autosomal inheritance was also ruled out molecularly. In one family, despite careful clinical and molecular evaluation, the mode of transmission could not be firmly established. We used tightly linked and intragenic COL4A5 markers, as well as COL4A3/A4-linked markers. A chromosome Y-specific marker for fetal sex determination was simultaneously used. In all the families, before the fetal analysis, the putative at-risk X haplotype was identified with high diagnostic accuracy. We diagnosed a healthy male fetus in one family, and female but carrier fetuses in the other two kindreds, who decided not to terminate their pregnancies. We used rapid nonisotopic polymerase chain reaction-based methods, and the results were available within 2 to 3 days. The genetic results significantly affected the reproductive decisions of the parents. This report illustrates the application of genetic linkage analysis as an additional tool for molecular diagnosis in AS, and also addresses the issue of the attitudes of the families toward prenatal testing. To our knowledge, prenatal diagnosis of AS using a genetic linkage approach has not been previously reported.

Adult↗
PubMed1996

Comparative evaluation of virological and serological methods in prenatal diagnosis of parvovirus B19 fetal hydrops.

Human parvovirus B19 infection in pregnancy represents a potential hazard to the fetus since fetal loss or fetal hydrops can occur. The risk of fetal loss due to transplacental B19 transmission has been evaluated in several studies using different diagnostic methods on maternal and fetal specimens. We analyzed the diagnostic value of virological and serological techniques on maternal serum, fetal cord blood, and amniotic fluid specimens obtained at the time of clinical diagnosis of fetal hydrops in 18 cases of B19 fetal hydrops. B19 DNA was detected by nested PCR, dot blot hybridization, and in situ hybridization assay. Anti-B19 immunoglobulin M and G antibodies were detected by immunoassays using recombinant B19 antigens. Our data suggest that for maternal sera, virological and serological methods have a complementary role in diagnosis, while for fetal specimens the in situ detection of B19 DNA in fetal cord blood is the most sensitive diagnostic system.

Adult↗
PubMed1993

Biometry of early pregnancy with transvaginal sonography.

A prospective cross-sectional study was performed in 248 pregnant women between 5 and 12 weeks' menstrual age with transvaginal sonography to establish biometric charts of the gestational sac, embryonic crown-rump length and biparietal diameter, amniotic sac and yolk sac to be used for assessment of gestational age and prediction of pregnancy failure. Polynomial regression analysis was applied and demonstrated a statistically significant positive correlation that could be described in all cases as a quadratic function, between gestational age and all the measurements with the exclusion of the yolk sac. Centile charts of both growth models and dating models were tabulated. The interrelationship between different measurements, including the gestational sac, crown-rump length, biparietal diameter and amniotic sac was also evaluated to produce age-independent charts. The dating model of the crown-rump length was found to have mean values similar to those described in transabdominal studies. The 95% reference interval was, however, 8.4 days, which was not lower than those reported in most transabdominal studies. It was concluded that transvaginal sonography was more able than the abdominal route to allow measurement of the crown-rump length in very early gestation, but did not yield a greater accuracy in predicting gestational age.

Journal Article↗
PubMed1993

Symptomatic parvovirus B19 infection of one fetus in a twin pregnancy.

Twin pregnancies complicated by infection due to parvovirus B19 are uncommon. We report a case in which only one fetus developed a symptomatic infection, which presented at first as ascites and pleural effusion; later, meconium peritonitis developed. Hydrops spontaneously resolved, and at birth meconium peritonitis was successfully treated with surgery. However, even with the positive outcome of this pregnancy, a long-term follow-up is needed to exclude damage other than injury to the erythropoietic system.

Adult↗
PubMed1992

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction.

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.

Alleles↗
PubMed1988

Transabdominal chorionic villus sampling: analysis of 350 consecutive cases.

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty-one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.

Abdominal Muscles↗