Challenges in variant interpretation in prenatal exome sequencing

Lina Basel-Salmon*, Rivka Sukenik-Halevy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The use of exome sequencing (ES) in the prenatal setting improves the diagnostic yield of genetic testing for fetuses with ultrasound anomalies. However, while the purpose of ES is to explain the fetal phenotype, secondary or incidental findings unrelated to the observed abnormalities might be detected. Recently, requests for ES in fetuses with no sonographic abnormalities have been increasing, raising serious ethical and medico-legal concerns. Variant interpretation is complex even in the postnatal setting and performing broad genomic data analyses in the prenatal setting presents additional dilemmas. This article discusses challenges and questions related to prenatal ES, including variant interpretation of incidental findings in cases of indicated prenatal ES, as well as in situations where ES is performed in asymptomatic fetuses.

Original languageEnglish
Article number104410
JournalEuropean Journal of Medical Genetics
Issue number2
StatePublished - Feb 2022


  • Analysis
  • Exome sequencing
  • Fetus
  • Prenatal diagnosis
  • Variant


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