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September 17, 2026Prenatal DiagnosisOpen Access

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

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Authors

ZDZandra C. DeansLBLina Basel‐SalmonKCKwong Wai Choy

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Overview

Consensus guideline reveals updated recommendations for diagnostic genomic sequencing in fetuses with structural anomalies, highlighting expanded international clinical adoption.

Key Points

  • To provide updated international consensus recommendations for the clinical use, eligibility criteria, and reporting standards of diagnostic genomic sequencing during prenatal care.
  • International consensus developed jointly by the European Society of Human Genetics (ESHG) and the International Society for Prenatal Diagnosis (ISPD).
  • Evaluation of ongoing global clinical implementations transitioning from capture-based sequencing toward genome sequencing in fetuses with ultrasound-identified structural anomalies.
  • Defines updated international criteria for testing eligibility, handling of secondary findings, and reporting standards to guide pregnancy management and postnatal treatment planning.
  • Addresses the rapid expansion and global uptake of prenatal whole-genome sequencing since the previous 2022 ISPD position statement.

Cite This Study

Deans et al. (2026) studied this question.

synapsesocial.com/papers/6aabb7c95f706d05830e70f4https://doi.org/10.1002/pd.70248
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