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Review
. 2022 May;42(6):796-803.
doi: 10.1002/pd.6157.

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

Ignatia B Van den Veyver  1   2 , Natalie Chandler  3 , Louise E Wilkins-Haug  4 , Ronald J Wapner  5 , Lyn S Chitty  3   6 ; ISPD Board of Directors
Affiliations
Review

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

Ignatia B Van den Veyver et al. Prenat Diagn. 2022 May.

Abstract

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.

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Conflict of interest statement

Conflicts of interest: IV is a member of the scientific advisory board of Baylor Genetics Laboratories which offers genome-wide sequencing (no monetary compensation) and performs externally funded research on prenatal genome-wide sequencing. RJC and IV receive NICHD funding (R01HD055651) for research on prenatal genome-wide sequencing. LWH and RJW receive funding from NIH for genomic sequencing of fetal loss (R01HD105266), LSC receives funding for research on prenatal sequencing from the UK National Institute of Health Research (NIHR127829) and the Great Ormond Street NIHR Biomedical Research Centre.

References

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