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 |
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Rok vydání: | 2021 |
Předmět: |
Adult
0301 basic medicine False discovery rate medicine.medical_specialty Mesenchyme 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Pregnancy Placenta Humans Medicine Clinical significance Genetics (clinical) Retrospective Studies Gynecology 030219 obstetrics & reproductive medicine Cell layer Cytotrophoblast medicine.diagnostic_test business.industry Obstetrics and Gynecology medicine.anatomical_structure Chorionic Villi Sampling Cytogenetic Analysis Amniocentesis Chorionic villi Female Chorionic Villi business |
Zdroj: | Prenatal Diagnosis. 41:652-660 |
ISSN: | 1097-0223 0197-3851 |
Popis: | 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 cytogenetic studies on 81,593 consecutive CV samples in which both Dir and LTC were analyzed. All mosaic cases received amniocentesis. The false omission and false discovery rates were calculated by assessing the results that would have been reported when analysis was limited to either Dir or LTC. RESULTS For all abnormalities combined, the proportion of normal Dir or LTC only reports that would have been inconsistent with a subsequent amniocentesis was 0.09% and 0.03%, respectively (false omissions). Among abnormal reports based on Dir or LTC alone, 8.01% and 3.17%, respectively, would be inconsistent with a subsequent amniocentesis result (false discoveries). Differences are present for individual abnormalities. CONCLUSIONS From the perspective of identifying all abnormalities of potential clinical significance, the analysis of both placental layers is optimal. LTC alone is the preferred approach if only one layer of placenta is to be analyzed. Although rare, it is important to acknowledge that one cell layer analysis alone can cause misdiagnosis due to undetected mosaicism. |
Databáze: | OpenAIRE |
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