Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center
In this single-center retrospective case series, chromosomal and genetic abnormalities were only detected in fetuses with syndromic clefts or additional anomalies. Among isolated cases, genetic testing was uniformly normal. These results reinforce that prenatal genetic testing may be most valuable when syndromic features or a strong family history are present, rather than as a routine in isolated clefts. Further multicenter studies are needed to support this approach and define standardized protocols.
Authors
- Carla Pinto Moura (ORCID: https://orcid.org/0000-0001-7291-6163)
- Susana Guimarães (ORCID: https://orcid.org/0000-0002-8628-5195)
- Marina Moucho (ORCID: https://orcid.org/0000-0003-3141-2844)
- Diogo Fernandes da Rocha (ORCID: https://orcid.org/0000-0001-5703-5093)
- Ana Costa Braga (ORCID: https://orcid.org/0000-0001-7658-7459)
- Magda Magalhães (ORCID: https://orcid.org/0000-0001-7048-8513)
- Teresa Carraca (ORCID: https://orcid.org/0009-0007-2106-7633)
- Renata Schlesner de Oliveira (ORCID: https://orcid.org/0000-0002-6469-7674)
- Helena Carolina Dias (ORCID: https://orcid.org/0009-0002-3948-2169)
- MARIA EDUARDA SOUZA COSTA (ORCID: https://orcid.org/0009-0004-3259-4082)
Institutions
- Hospital de São João (PT)
Publication Details
- Journal
- Acta Médica Portuguesa
- Published
- 2025-12-19
- DOI
- https://doi.org/10.20344/amp.23371
- Primary Topic
- Cleft Lip and Palate Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00