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Fetal pleural effusion: Contemporary methods of genetic evaluation
Author(s) -
Weissbach Tal,
Kushnir Anya,
Rasslan Rana,
Rosenblatt Orgad,
Yi Yoav,
Berkenstadt Michal,
Weisz Boaz,
Mazaki Tovi Shali,
Kassif Eran
Publication year - 2019
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.5497
Subject(s) - abnormality , medicine , genetic testing , aneuploidy , karyotype , pleural effusion , chromosome abnormality , pathology , chromosome , biology , genetics , gene , psychiatry
Abstract Objective To determine the contribution of chromosomal microarray (CMA) and other advanced genetic tests to the genetic evaluation of fetal pleural effusion (FPE) and to identify parameters that might assist in predicting genetic abnormality. Methods A retrospective study of FPE cases referred between 2013 and 2018 was conducted. Cases that underwent genetic evaluation were divided into two groups, chromosomally normal and genetically abnormal. The types and prevalence of genetic abnormalities were reported. Clinical and sonographic parameters were compared. Univariate and multivariate analyses were performed to determine an association between different parameters and genetic abnormality. Results Sixty‐two cases were included in the study. Forty‐eight cases were genetically assessed (karyotype, CMA, whole exome sequencing, Noonan panel, or a combination). A clinically significant genetic abnormality was detected in 29.17% (14/48) of cases. Aneuploidy and single gene disorders were found in 78.6% (11/14) and 21.4% (3/14) of abnormal cases. Four additional cases had microdeletion/duplications detected, yet none were of clinical significance. Multivariate analysis indicated that the presence of anomalies was statistically associated with genetic abnormality (95% CI, 1.144‐168.2; 0.039). Conclusion In our cohort, CMA did not demonstrate an additional clinical yield over karyotyping. The presence of anomalies was independently associated with underlying genetic abnormality.