Fetal pleural effusion: Contemporary methods of genetic evaluation

Tal Weissbach*, Anya Kushnir, Rana Rasslan, Orgad Rosenblatt, Yoav Yinon, Michal Berkenstadt, Boaz Weisz, Shali Mazaki Tovi, Eran Kassif

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)751-757
Number of pages7
JournalPrenatal Diagnosis
Volume39
Issue number9
DOIs
StatePublished - Aug 2019

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