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Challenges in variant interpretation in prenatal exome sequencing.

Lina Basel-Salmon1, Rivka Sukenik-Halevy2

  • 1Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.

European Journal of Medical Genetics
|December 24, 2021
PubMed
Summary

Prenatal exome sequencing (ES) aids diagnosis for fetuses with anomalies but raises ethical concerns. Interpreting incidental findings in both indicated and asymptomatic prenatal ES cases presents complex challenges.

Keywords:
AnalysisExome sequencingFetusPrenatal diagnosisVariant

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Area of Science:

  • Genetics and Genomics
  • Prenatal Diagnosis
  • Bioethics

Background:

  • Exome sequencing (ES) enhances diagnostic yield for fetal anomalies detected via ultrasound.
  • Increasing requests for ES in asymptomatic fetuses raise significant ethical and medico-legal questions.
  • Variant interpretation is challenging, with added complexity in the prenatal context.

Purpose of the Study:

  • To discuss the challenges and ethical dilemmas associated with prenatal exome sequencing.
  • To address variant interpretation of incidental findings in indicated and asymptomatic prenatal ES.
  • To explore the implications of broad genomic data analysis in prenatal genetic testing.

Main Methods:

  • Review of current practices and ethical considerations in prenatal exome sequencing.
  • Analysis of challenges in interpreting secondary or incidental findings.
  • Discussion of medico-legal concerns related to ES in fetuses with and without anomalies.

Main Results:

  • Prenatal ES improves diagnosis for fetuses with ultrasound anomalies.
  • Incidental findings unrelated to fetal phenotype are a significant concern.
  • Performing ES on asymptomatic fetuses introduces complex ethical and interpretive dilemmas.

Conclusions:

  • Prenatal exome sequencing requires careful consideration of ethical and interpretive challenges.
  • Guidelines are needed for managing incidental findings in prenatal ES.
  • Further discussion is essential regarding the use of ES in asymptomatic fetuses.