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, i.e., 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 methods [ 3 , 4 ], due to significant improvements in detecting copy-number and structural variants and the evolution of new sequencing platforms utilizing long-read technology. Moreover, improvements in fetal imaging and earlier scans have allowed more accurate fetal phenotyping, and in combination with increased availability of genomic sequencing is evolving our understanding of the prenatal features of genetic diseases. This has created a need to update recommendations to respond to this rapidly advancing field.