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Performance of conventional cytogenetic analysis on chorionic villi when only one cell layer, cytotrophoblast or mesenchyme alone, is analyzed
Author(s) -
Grati Francesca Romana,
Malvestiti Francesca,
Gallazzi Gloria,
Saragozza Silvia,
Grimi Beatrice,
Agrati Cristina,
Branca Lara,
Palumbo Federica,
Trotta Anna,
Chinetti Sara,
Simoni Giuseppe,
Ferreira Jose,
Benn Peter
Publication year - 2021
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5941
Subject(s) - amniocentesis , cytotrophoblast , chorionic villi , aneuploidy , prenatal diagnosis , chorionic villus sampling , placenta , andrology , mesenchyme , medicine , biology , pathology , obstetrics , genetics , pregnancy , fetus , chromosome , epithelium , gene
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.