Search Results - "Pompilii, Eva"

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis by Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

“…Objectives Chromosomal mosaicism in chorionic villi (CV) is detected in ~1–2% of cases. When a mosaic in CV is detected during prenatal diagnosis, a…”
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The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure by Grati, Francesca Romana, Bajaj, Komal, Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Malvestiti, Barbara, Pompilii, Eva, Maggi, Federico, Gross, Susan, Simoni, Giuseppe, Ferreira, Jose Carlos P.

“…Objectives Cell‐free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast…”
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VALIDATION OF AN INTEGRATED PGT-A STRATEGY FOR PARALLEL ASSESSMENT OF ANEUPLOIDY, PLOIDY LEVEL, AND PRESENCE OF MAJOR MICRODELETIONS IN A SINGLE TROPHECTODERM BIOPSY by Capalbo, Antonio, Caroselli, Silvia, Miravet-Valenciano, Jose, Bau, Davide, Girardi, Laura, Figliuzzi, Matteo, Poli, Maurizio, Bernardini, Laura, Pompilii, Eva, Anastasi, Attilio, Capodanno, Francesco, Gallinelli, Andrea, Jimenez-Almazán, Jorge, Rubio, Carmen, Brancati, Francesco, Jarque, David Blesa, Simón, Carlos

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Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis by Battaglia, Paola, Baroncini, Anna, Mattarozzi, Angela, Baccolini, Ilaria, Capucci, Antonella, Spada, Francesca, Pompilii, Eva, Pittalis, Maria Carla

“…ABSTRACT Objective To contribute to the risk assessment of true fetal mosaicism after detection of a mosaic chromosomal anomaly in chorionic villus samples…”
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Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling by Godino, Lea, Pompilii, Eva, D'Anna, Federica, Morselli-Labate, Antonio M, Nardi, Elena, Seri, Marco, Rizzo, Nicola, Pilu, Gianluigi, Turchetti, Daniela

“…Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt…”
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Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling by Salsi, Ginevra, Grati, Francesca Romana, Bellussi, Federica, Pompilii, Eva, Maggi, Federico, Simoni, Giuseppe, D'Ambrosi, Francesco, Orsi, Michele, Gentile, Mattia, Rembouskos, Georgios, Zuliani, Guglielmo, Volpe, Paolo, Pilu, Gianluigi

“…To estimate the procedure-related risk of miscarriage in pregnancies undergoing amniocentesis (AC) following inconclusive results for a chorionic villus…”
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Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis: Interpreting mosaicism in chorionic villi by Malvestiti, Francesca, Agrati, Cristina, Grimi, Beatrice, Pompilii, Eva, Izzi, Claudia, Martinoni, Lorenza, Gaetani, Elisa, Liuti, Maria Rosaria, Trotta, Anna, Maggi, Federico, Simoni, Giuseppe, Grati, Francesca Romana

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Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis: Cytogenetic follow-up of CVS mosaicism by Battaglia, Paola, Baroncini, Anna, Mattarozzi, Angela, Baccolini, Ilaria, Capucci, Antonella, Spada, Francesca, Pompilii, Eva, Pittalis, Maria Carla

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Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more by Ghi, Tullio, Arcangeli, Tiziana, Ravennati, Francesca, Salsi, Ginevra, Montaguti, Elisa, Pacella, Giuseppina, Maroni, Elisa, Pittalis, Maria Carla, Pompilii, Eva, Pilu, Gianluigi, Rizzo, Nicola

“…Abstract Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. Methods: A…”
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Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements by Pittalis, Maria Carla, Mattarozzi, Angela, Menozzi, Cristina, Malacarne, Michela, Baccolini, Ilaria, Farina, Antonio, Pompilii, Eva, Magini, Pamela, Percesepe, Antonio

“…Mosaic structural chromosomal abnormalities observed along the trophoblast‐mesenchyme‐fetal axis, although rare, pose a difficult problem for their prognostic…”
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Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations by Migliore, Chiara, Athanasakis, Emmanouil, Dahoun, Sophie, Wonkam, Ambroise, Lees, Melissa, Calabrese, Olga, Connell, Fiona, Lynch, Sally Ann, Izzi, Claudia, Pompilii, Eva, Thakur, Seema, van Maarle, Merel, Wilson, Louise C, Meroni, Germana

“…Abstract Opitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by developmental defects of midline structures. The most relevant…”
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Persistence of a monosomic cell line in a fetus with mosaic trisomy 8 by Turchetti, Daniela, Pompilii, Eva, Magrini, Elisabetta, Bonasoni, Maria Paola, Pittalis, Maria Carla, Segata, Maria, Pession, Annalisa, Santini, Donatella, Pilu, Gianluigi, Seri, Marco

“…We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound…”
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Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome by Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C., Rossi, Sabrina, Delezoïde, Anne L., Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R.

“…Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS…”
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Persistence of a monosomic cell line in a fetus with mosaic trisomy 8 by Turchetti, Daniela, Pompilii, Eva, Magrini, Elisabetta, Bonasoni, Maria Paola, Pittalis, Maria Carla, Segata, Maria, Pession, Annalisa, Santini, Donatella, Pilu, Gianluigi, Seri, Marco

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