ESHG and ISPD issue global guidance on prenatal genomic sequencing
The European Society of Human Genetics and the International Society for Prenatal Diagnosis issued joint global recommendations for diagnostic genomic sequencing in prenatal care, published in the European Journal of Human Genetics. The guidance covers fetuses with anomalies. According to the authors, the update responds to a rapid shift from capture-based testing toward genome sequencing, new long-read platforms, and more accurate fetal imaging since ISPD's 2022 statement, which had urged caution over testing eligibility and which findings to report.
Clinicians and prospective parents get updated global standards for deciding which prenatal genome-sequencing findings to test for and report.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].