Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Our study further confirms that pES is a valuable diagnostic tool for detecting genetic etiology in fetuses with congenital malformations. In most cases, pES results accurately predict the postnatal phenotype. However, the prenatal setting requires specific adjustments and precautions, and a negative pES result cannot be considered reassuring.
Authors
- N. Persico
- Lorenzo Colombo (ORCID: https://orcid.org/0000-0001-9367-8918)
- Maria Garzo (ORCID: https://orcid.org/0000-0003-2279-1723)
- Gabriella Araimo
- Alessia Carrer (ORCID: https://orcid.org/0000-0002-2638-9910)
- Veronica Accurti
- G. Volpe (ORCID: https://orcid.org/0000-0001-6307-1912)
- Berardo Rinaldi (ORCID: https://orcid.org/0000-0001-5763-5347)
- Valeria Nicotra
- Federica Natacci (ORCID: https://orcid.org/0000-0002-8625-3089)
- Palma Finelli (ORCID: https://orcid.org/0000-0001-8464-6906)
- Monica Fumagalli (ORCID: https://orcid.org/0000-0002-0186-0710)
- Francesco Maria Crupano (ORCID: https://orcid.org/0000-0002-9720-8590)
- Simona Boito (ORCID: https://orcid.org/0000-0002-7237-8155)
- Daniela Marchetti (ORCID: https://orcid.org/0000-0002-5189-0061)
- Silvana Gangi
- Giulietta Scuvera
- Laura Pezzoli
- Maria Francesca Bedeschi
- Claudia Cesaretti
- Matilde Tagliabue
- Maria Iascone
Institutions
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Ospedale Papa Giovanni XXIII (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-12-30
- DOI
- https://doi.org/10.3390/genes17010037
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00