Výsledky vyhledávání - "Eva Pompilii"

Isolated Upward Rotation of the Fetal Cerebellar Vermis (Blake's Pouch Cyst) Is a Normal Variant: An Analysis of 111 Cases

Autor: Gianluigi Pilu, Elisa Montaguti, C. Votino, Paolo Volpe, Francesco Toni, Monica Maffei, Ginevra Salsi, G. Volpe, Eva Pompilii, T. Fanelli

Publikováno v: Fetal diagnosis and therapy. 48(6)

Introduction: The objective of the study was to provide more detailed data about fetal isolated upward rotation of the cerebellar vermis rotation (Blake’s pouch cyst) in particular regarding pregnancy outcome. Methods: This is a retrospective study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0b7f603ddc1ad6f317b424e54bb0d1
https://pubmed.ncbi.nlm.nih.gov/34182549

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Risk of Fetal Loss in Pregnancies Undergoing Midtrimester Amniocentesis after Inconclusive Chorionic Villus Sampling

Autor: Mattia Gentile, Paolo Volpe, Federico Maggi, Francesca Romana Grati, Gianluigi Pilu, Ginevra Salsi, G. Rembouskos, Eva Pompilii, Francesco D'Ambrosi, Federica Bellussi, Giuseppe Simoni, Michele Orsi, Guglielmo Zuliani

Publikováno v: Fetal Diagnosis and Therapy. 46:149-152

Objective: To estimate the procedure-related risk of miscarriage in pregnancies undergoing amniocentesis (AC) following inconclusive results for a chorionic villus sampling (CVS). Methods: This was a multicentric retrospective cohort study of patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6671e149f87b820679a7f213b4808031
https://doi.org/10.1159/000493206

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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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Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more

Autor: Gianluigi Pilu, Francesca Ravennati, Tullio Ghi, Elisa Maroni, Eva Pompilii, Maria Carla Pittalis, Elisa Montaguti, G. Pacella, T. Arcangeli, Nicola Rizzo, Ginevra Salsi

Publikováno v: The Journal of Maternal-Fetal & Neonatal Medicine. 28:674-678

Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who reques

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02019ba2da8f237ca9a255814afcdb2
https://doi.org/10.3109/14767058.2014.928852

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Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis

Autor: Antonella Capucci, Anna Baroncini, Ilaria Baccolini, Angela Mattarozzi, Francesca Spada, Paola Battaglia, Eva Pompilii, Maria Carla Pittalis

Publikováno v: Prenatal Diagnosis. 34:739-747

Objective To contribute to the risk assessment of true fetal mosaicism after detection of a mosaic chromosomal anomaly in chorionic villus samples (CVS) in order to enable more effective counseling and pregnancy management. Methods We retrospectively

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d75a857e769bf4520a1cdeb87e85cb98
https://doi.org/10.1002/pd.4358

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Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Publikováno v: Clinical Case Reports

Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic featu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d90455243f99c7bc4ccedc0437d2ab5
https://doi.org/10.1002/ccr3.48

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Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

Autor: Alessandra Ferlini, G. Astolfi, Olga Calabrese, Anna Baroncini, Eva Pompilii, G. Parmeggiani, E. Calzolari, Marco Seri, M. Lucci

Publikováno v: Prenatal Diagnosis. 34:71-74

Objective The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA). Method We retrospectively reviewed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ce99388813a80d89c4aaefa1a6ed104
https://doi.org/10.1002/pd.4257

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