International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis

The research and clinical use of genome-wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years. Current data indicate that the diagnostic rate is comparable and for certain indications higher than that of standard testing by karyotype and chromosomal microarray. Responsible clinical implementation and diagnostic use of prenatal sequencing depends on standardized laboratory practices and detailed pre-test and post-test counseling. This Updated Position Statement on behalf of the International Society for Prenatal Diagnosis recommends best practices for the clinical use of prenatal exome and genome sequencing from an international perspective. We include several new points for consideration by researchers and clinical service and laboratory providers. Key points What is already known about this topic? In 2018, the International Society for Prenatal Diagnosis published the first Position Statement on the use genome-wide sequencing, which was then an emerging technology, in the diagnostic work-up of pregnancies complicated by fetal congenital anomalies. What does this study add? Since then, there has been a significant growth in the experience with prenatal genome-wide sequencing. This new Position Statement replaces the 2018 statement with updated information on the technologies, experience, and recommended practices.

Automated summary

The research and clinical use of genome-wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have greatly increased in recent years. This study recommends responsible clinical implementation and diagnostic use of prenatal sequencing through standardized laboratory practices and detailed counseling.