The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

Abstract

Review of additional testing beyond CMA in this cohort did not attempt to assess the overall yield of sequencing; instead, the study used a selected approach in which cases of fetal edema underwent further testing beyond CMA. In cases with cystic hygroma or increased nuchal translucency, RASopathy panel sequencing provides a good diagnostic yield, and should be offered as standard of care with CMA. Correlation of new and developing prenatal and postnatal findings, along with multidisciplinary team review, may inform additional testing, counseling and pregnancy management options, and is particularly important to consider in cases presenting with non-immune fetal hydrops.