International Society for Prenatal Diagnosis 2022 Debate 3-Fetal Genome Sequencing Should Be Offered to All Pregnant Patients

Authors

Ignatia B Van den Veyver
Yuval Yaron
Zandra C Deans

Publication Date

4-1-2023

Journal

Prenatal Diagnosis

DOI

10.1002/pd.6247

PMID

36221164

PMCID

PMC10108654

PubMedCentral® Posted Date

4-1-2024

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Pregnancy, Female, Humans, Ultrasonography, Prenatal, Pregnancy Trimester, First, Prenatal Diagnosis, Fetus, Prenatal Care

Abstract

Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories of fetal anomalies, and principles of interpretation of pathogenicity of sequence variants are still under investigation. However, there is now growing consensus about its benefits for finding the cause of fetal structural anomalies. What is not established, is whether exome or genome sequencing (GS) has a place in the care of all pregnant women. This report is a summary of the debate on this topic at the 26th International Conference on Prenatal Diagnosis and Therapy. Both expert debaters considered the advantages and disadvantages. Advantages include the ability to diagnose serious childhood conditions without a prenatally observable phenotype, which creates the potential of early treatments. Disadvantages include difficulties with variant classification, counseling complexities, healthcare cost, and the burden on healthcare systems and families, in particular with the discovery of adult-onset disorders or variants of uncertain significance. Although both debaters weighed the balance of these conflicting arguments differently, they agreed that more research is needed to further explore the clinical utility and ethical aspects of GS for all pregnant women.