Výsledky vyhledávání - "Beatrice, Grimi"

Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed

Autor: Beatrice Grimi, Francesca Romana Grati, Anna Trotta, Cristina Agrati, Peter Benn, Federica Palumbo, Gloria Gallazzi, Jose Ferreira, Silvia Saragozza, Lara Branca, Giuseppe Simoni, Francesca Malvestiti, Sara Chinetti

Publikováno v: Prenatal Diagnosis. 41:652-660

OBJECTIVE To provide an estimation of the probability of error when chorionic villi (CV) cytogenetic analysis is limited to a single placental layer; either a direct preparation (Dir) or long-term culture (LTC). METHODS We retrospectively reviewed cy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffeedd841de98920752a97fdd9a2dbc3
https://doi.org/10.1002/pd.5941

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Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples

Autor: Francesca Malvestiti, Francesca Romana Grati, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Peter Benn

Publikováno v: Ultrasound in Obstetrics & Gynecology. 54:458-467

Direct chromosome preparations of chorionic villus samples (CVS) and cell-free DNA (cfDNA) testing both involve analysis of the trophoblastic cell lineage. The aim of this study was to compare the spectrum of rare autosomal trisomies (RATs) detected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bb7173eec99a28efa4565ec1494c3d
https://doi.org/10.1002/uog.20383

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Akademický článek

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Autor: Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati

Publikováno v: Case Reports in Genetics, Vol 2013 (2013)

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by

Externí odkaz: https://doaj.org/article/d91cd6b8cc794080b801e21e87e8f322

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Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies

Autor: Barbara Malvestiti, Giuseppe Simoni, Francesca Malvestiti, Valentina Zanatta, Susan J. Gross, Livia Marcato, Federico Maggi, Francesca Romana Grati, Komal Bajaj, Jose Ferreira, Beatrice Grimi

Publikováno v: Prenatal Diagnosis. 37:1017-1027

Objective The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the (1) false positive/negative rates of cfDNA testing consequent to fetoplacental mosaicism for any sex chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ffcdc5e1f5cbbb5967571fce6294c2bb
https://doi.org/10.1002/pd.5138

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Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications

Autor: Susan J. Gross, Anna Trotta, Jacob Hartman, Francesca Malvestiti, Lara Branca, Rosaria Liuti, Giuseppe Simoni, Jose Ferreira, Federico Maggi, Maria Beatrice Grimi, Francesca Romana Grati, Silvia Milani, Komal Bajaj

Publikováno v: Prenatal Diagnosis. 36:1146-1155

Objectives No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e6a21f9bf2f3b798a3e0d2009356747
https://doi.org/10.1002/pd.4951

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Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis

Autor: Francesca Malvestiti, Maria Rosaria Liuti, Beatrice Grimi, Elisa Gaetani, Cristina Agrati, Federico Maggi, Giuseppe Simoni, Anna Trotta, Francesca Romana Grati, Claudia Izzi, Lorenza Martinoni, Eva Pompilii

Publikováno v: Prenatal Diagnosis. 35:1117-1127

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 confirmatory karyotype should be performed on amniocytes to discriminate between a mosaic confined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b2112c5171324b780b9911ead0bb148e
https://doi.org/10.1002/pd.4656

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The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

Autor: Komal Bajaj, Beatrice Grimi, Federico Maggi, Barbara Malvestiti, Giuseppe Simoni, Cristina Agrati, Susan J. Gross, Eva Pompilii, Francesca Malvestiti, Jose Ferreira, Francesca Romana Grati

Publikováno v: Prenatal Diagnosis. 35:994-998

Objectives Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4164cae7a6c4199e1112b44c38d4ee17
https://doi.org/10.1002/pd.4659

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Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies

Autor: Francesca Romana, Grati, Komal, Bajaj, Valentina, Zanatta, Francesca, Malvestiti, Barbara, Malvestiti, Livia, Marcato, Beatrice, Grimi, Federico, Maggi, Giuseppe, Simoni, Susan J, Gross, Jose, Ferreira

Publikováno v: Prenatal diagnosis. 37(10)

The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the (1) false positive/negative rates of cfDNA testing consequent to fetoplacental mosaicism for any sex chromosome aneupl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d00601853da9ce613083a76e0ea02abd
https://pubmed.ncbi.nlm.nih.gov/28801976

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