Publicação
Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center
| Resumo: | Introduction: Orofacial clefts are common congenital malformations that may occur in isolation or as part of a syndrome. Early prenatal diagnosis provides crucial information for parental counseling, delivery planning, and multidisciplinary neonatal care. This study aimed to review orofacial cleft cases diagnosed during the prenatal period and to assess the relationship between cleft type, associated anomalies, genetic findings and pregnancy outcomes.Methods: This retrospective study included all fetuses with a prenatal diagnosis of cleft lip and/or cleft palate who received obstetric care at the Unidade Local de Saúde São João between January 2014 and December 2023. Data collected included baseline maternal characteristics, fetal sex, gestational age at diagnosis, associated anomalies, genetic and pathological evaluation and pregnancy outcomes. Results: Forty-eight fetuses were included. Prenatal diagnosis was most often made in the second trimester (77.1%), while all first-trimester diagnoses were associated with additional anomalies. Overall, 20 fetuses (41.7%) had syndromic or non-isolated clefts, accounting for all chromosomal and genetic abnormalities. In isolated cases (58.3%), genetic testing consistently yielded normal results, with only two of them receiving a genetic diagnosis postnatally. Eighteen pregnancies were terminated, mostly in cases with associated anomalies.Conclusion: 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. |
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| Autores principais: | Dias, Helena |
| Outros Autores: | Fernandes da Rocha, Diogo; Henriques Costa, Marta; Guimarães, Susana; Costa Braga, Ana; Oliveira, Renata; Carraca, Teresa; Moucho, Marina; Pinto Moura, Carla; Magalhães, Magda |
| Assunto: | Cleft Lip Cleft Palate Congenital Abnormalities/diagnosis Genetic Testing Pregnancy Outcome Prenatal Diagnosis Anomalias Congenitas/diagnóstico Diagnóstico Prenatal Fenda Labial Fenda Palatina Resultado da Gravidez Testes Genéticos |
| Ano: | 2025 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | unknown |
| Instituição associada: | Ordem dos Médicos |
| Idioma: | inglês |
| Origem: | Acta Médica Portuguesa |
| Resumo: | Introduction: Orofacial clefts are common congenital malformations that may occur in isolation or as part of a syndrome. Early prenatal diagnosis provides crucial information for parental counseling, delivery planning, and multidisciplinary neonatal care. This study aimed to review orofacial cleft cases diagnosed during the prenatal period and to assess the relationship between cleft type, associated anomalies, genetic findings and pregnancy outcomes.Methods: This retrospective study included all fetuses with a prenatal diagnosis of cleft lip and/or cleft palate who received obstetric care at the Unidade Local de Saúde São João between January 2014 and December 2023. Data collected included baseline maternal characteristics, fetal sex, gestational age at diagnosis, associated anomalies, genetic and pathological evaluation and pregnancy outcomes. Results: Forty-eight fetuses were included. Prenatal diagnosis was most often made in the second trimester (77.1%), while all first-trimester diagnoses were associated with additional anomalies. Overall, 20 fetuses (41.7%) had syndromic or non-isolated clefts, accounting for all chromosomal and genetic abnormalities. In isolated cases (58.3%), genetic testing consistently yielded normal results, with only two of them receiving a genetic diagnosis postnatally. Eighteen pregnancies were terminated, mostly in cases with associated anomalies.Conclusion: 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. |
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