Barbara Matarrelli

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BACKGROUND Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis(More)
OBJECTIVE To compare the efficacy of combined, stepwise sequential, and contingent screening versus the integrated test in detecting fetal aneuploidies. STUDY DESIGN First trimester combined test, sequential second trimester, and contingent risks were retrospectively calculated for 7292 unselected pregnant women with singleton pregnancies who had received(More)
OBJECTIVE To test the hypothesis that dietary myo-inositol may improve insulin resistance and the development of gestational diabetes mellitus (GDM) in women at high risk of this disorder. DESIGN A prospective, randomized, double-blind, placebo controlled clinical trial, pilot study. PARTICIPANTS Non-obese singleton pregnant women with an elevated(More)
Gestational diabetes mellitus (GDM) is a common complication characterized by increased insulin resistance, and by increased risk for adverse pregnancy outcomes affecting both the mother and the fetus. International guidelines describe optimal ways to recognize it, and the recommended treatment of patients affected to reduce adverse outcomes. Improving(More)
We report on an apparently normal 5-month-old boy with a X;Y complex rearrangement identified first on prenatal diagnosis and found on array-CGH to have a 7.6 Mb duplication of Xp22.3 chromosome and a deletion of Yq chromosome, distal to the AZFa locus. Karyotype analysis on amniotic fluid cell cultures revealed a de novo homogenous chromosome marker that(More)
A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.Here we report a case of digynic triploidy, which resulted from fertilization of a diploid ovum by a single(More)
A magnetic resonance (MR) diffusion tensor imaging (DTI) study was performed in a newborn with bilateral subependymal heterotopia (SE). White matter fractional anisotropy (FA), axial diffusivity (AD) and radial diffusivity (RD) were compared to values obtained in four newborns with moderate perinatal asphyxia and normal MRI findings. The reduction of FA and(More)
Cytomegalovirus (CMV) is a common cause of intrauterine infection, and occurs in 0.2-2.2% of all live births in western countries [1]. Primary infection is defined as CMV infection in previously seronegative woman. After the primary infection the virus becomes dormant and exists in a latent state, from which it can be reactivated. In addition, there seem to(More)