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August 1, 2025Birth Defects Research

Progress, Challenges, and Prospects of Short‐Read Genome Sequencing in Prenatal Diagnosis

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Authors

YWY WangXZXiaofan ZhuZGZhi Gao

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Overview

This review highlights improvements in diagnostic rate using whole-genome sequencing in prenatal diagnosis, suggesting future directions amid challenges.

Key Points

  • Whole-genome sequencing significantly improves diagnostic rate for fetuses with developmental abnormalities, and it also faces challenges in interpreting certain findings.
  • Evidence from recent studies shows that whole-genome sequencing can enhance clinical validity in prenatal diagnoses while presenting ethical considerations.
  • This review synthesized existing guidelines and research on whole-genome sequencing, focusing on its clinical usefulness and diagnostic limitations.
  • The findings emphasize the need for further research to address the challenges of whole-genome sequencing in prenatal diagnosis applications.

Cite This Study

Wang et al. (2025) studied this question.

synapsesocial.com/papers/68af495fad7bf08b1ead5708https://doi.org/10.1002/bdr2.2516
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications2026 · 1 citations
  2. 2[Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities].2024
  3. 3Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD2026
  4. 4Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis2026 · 2 citations
  5. 5Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD2026