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

Diagnostic genomic sequencing is increasingly being implemented in the prenatal setting for fetuses with structural anomalies identified by imaging.Such testing provides information for multiple purposes that is, guiding treatment decisions, preparation for the birth of an affected child or termination of a pregnancy.Some national committee's statements have been published [1].However, to date there is only one international position statement on the use of genome-wide sequencing for prenatal diagnosis issued by the ISPD in 2022 whereby caution was recommended as to testing eligibility criteria and which findings should be reported [2].Since then, the use of prenatal genomic sequencing has rapidly developed with more countries implementing genome sequencing rather than capture-based Francesca Forzano and Natalie J. Chandler contributed equally to this study.