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 that is, 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 Francesca Forzano and Natalie J. Chandler contributed equally to this study.
Authors
- Kwong Wai Choy (ORCID: https://orcid.org/0000-0002-3616-6200)
- Sabine Hentze
- Raquel Gouveia Silva (ORCID: https://orcid.org/0000-0002-5470-5490)
- Lina Basel‐Salmon (ORCID: https://orcid.org/0000-0002-6327-5138)
- Tina‐Marié Wessels (ORCID: https://orcid.org/0000-0002-2676-0564)
- Paula Jorge (ORCID: https://orcid.org/0000-0002-6507-222X)
- Luca Lovrečić (ORCID: https://orcid.org/0000-0003-4119-9530)
- Francesca Forzano (ORCID: https://orcid.org/0000-0001-5632-0052)
- Lilian Downie (ORCID: https://orcid.org/0000-0003-3914-5592)
- Dora Mayen
- Natalie Chandler (ORCID: https://orcid.org/0000-0003-1396-0740)
- Francesca Romana Grati (ORCID: https://orcid.org/0000-0002-3836-5190)
- Guido de Wert (ORCID: https://orcid.org/0000-0002-0410-4902)
- Álvaro Mendes (ORCID: https://orcid.org/0000-0002-8766-7646)
- Zandra C. Deans (ORCID: https://orcid.org/0000-0001-9361-6012)
- Zirui Dong (ORCID: https://orcid.org/0000-0002-3626-6500)
- Michael Morris
- Brynn Levy
- Ashley Pritchard (ORCID: https://orcid.org/0009-0002-0484-3892)
Institutions
- Technische Hochschule Mannheim (DE)
- Synlab Czech (Czechia) (CZ)
- NHS Lothian (GB)
- NewYork–Presbyterian Hospital (US)
- University of Lisbon (PT)
- University of Ljubljana (SI)
- University of Cape Town (ZA)
- Tel Aviv University (IL)
- The University of Melbourne (AU)
- Chinese University of Hong Kong (HK)
- Universidade do Porto (PT)
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Ljubljana University Medical Centre (SI)
- Maccabi Healthcare Services (IL)
- Maastricht University (NL)
- Castellini (Italy) (IT)
- Victorian Clinical Genetics Services (AU)
- Department of Health (TW)
- Synlab (Germany) (DE)
- Instituto de Salud del Estado de México (MX)
- Hospital de Santa Maria (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Maccabi Institute for Health Services Research (IL)
- University of Coimbra (PT)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-09-15
- DOI
- https://doi.org/10.1002/pd.70248
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research
- Tel Aviv University