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Review
. 2025 Mar;45(3):299-309.
doi: 10.1002/pd.6692. Epub 2024 Nov 12.

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group

Guillaume Cogan  1 , Marie-Bérengère Troadec  2   3 , Françoise Devillard  4 , Marie-Hélène Saint-Frison  5 , David Geneviève  6 , François Vialard  7 , Emmanuelle Rial-Sebbag  8 , Delphine Héron  9 , Tania Attie-Bitach  10 , Alexandra Benachi  11 , Pascale Saugier-Veber  12
Affiliations
Review

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group

Guillaume Cogan et al. Prenat Diagn. 2025 Mar.

Abstract

Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.

Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed.

Results: We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals.

Conclusion: This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES.

Keywords: ethics; prenatal medicine; ultrasonography fetal anomaly findings; whole exome sequencing.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Main opinion statements of the French Federation of Human Genetics working group.
See this image and copyright information in PMC

References

    1. Monaghan K. G., Leach N. T., Pekarek D., Prasad P., and Rose N. C., and ACMG Professional Practice and Guidelines Committee , “The Use of Fetal Exome Sequencing in Prenatal Diagnosis: A Points to Consider Document of the American College of Medical Genetics and Genomics (ACMG),” Genetics in Medicine 22, no. 4 (April 2020): 675–680, 10.1038/s41436-019-0731-7. - DOI - PubMed
    1. Wojcik M. H., Schwartz T. S., Thiele K. E., et al., “Infant Mortality: The Contribution of Genetic Disorders,” Journal of Perinatology 39, no. 12 (December 2019): 1611–1619, 10.1038/s41372-019-0451-5. - DOI - PMC - PubMed
    1. Levy B. and Wapner R., “Prenatal Diagnosis by Chromosomal Microarray Analysis,” Fertility and Sterility 109, no. 2 (February 2018): 201–212, 10.1016/j.fertnstert.2018.01.005. - DOI - PMC - PubMed
    1. Best S., Wou K., Vora N., Van der Veyver I. B., Wapner R., and Chitty L. S., “Promises, Pitfalls and Practicalities of Prenatal Whole Exome Sequencing,” Prenatal Diagnosis 38, no. 1 (January 2018): 10–19, 10.1002/pd.5102. - DOI - PMC - PubMed
    1. Normand E. A., Braxton A., Nassef S., et al., “Clinical Exome Sequencing for Fetuses With Ultrasound Abnormalities and a Suspected Mendelian Disorder,” Genome Medicine 10, no. 1 (September 2018): 74, 10.1186/s13073-018-0582-x. - DOI - PMC - PubMed