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

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.

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Publication Details

Journal
Prenatal Diagnosis
Published
2026-03-03
DOI
https://doi.org/10.1002/pd.70116
Primary Topic
Parvovirus B19 Infection Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Jo‐Ann Brock, Erica Schollenberg, Erika Aberg, Victoria M. Allen et al.
Prenatal Diagnosis
Parvovirus B19 Infection Studies
article

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

Jo‐Ann Brock, Erica Schollenberg, Erika Aberg, Victoria M. Allen, Samantha Kinley, Heleen H Arts
article en

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.

Prenatal Diagnosis
Dalhousie University (CA), Capital District Health Authority (CA)
Good health and well-being
Openalex Percentile: Top 35%
Parvovirus B19 Infection Studies
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