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Cleft Lip and Palate: Prenatal Diagnosis, Genetic Testing, and Pregnancy Outcomes in a Tertiary Referral Center
Helena Carolina Dias1, Diogo Fernandes da Rocha2, Marta Henriques Costa1
1Obstetrics Department. Centro Hospitalar Universitário de São João. Unidade Local de Saúde de São João. Porto. & Department of Gynecology and Obstetrics. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.
Insights
Prenatal genetic testing for orofacial clefts is most effective when syndromic features are present. Isolated cleft cases typically show normal genetic results, suggesting targeted testing is more valuable than routine screening.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Congenital Malformations
Background:
- Orofacial clefts are common congenital malformations, occurring in isolation or as part of syndromes.
- Early prenatal diagnosis is vital for parental counseling, delivery planning, and neonatal care.
Purpose of the Study:
- To review prenatal orofacial cleft cases.
- To assess the relationship between cleft type, associated anomalies, genetic findings, and pregnancy outcomes.
Main Methods:
- Retrospective study of fetuses diagnosed with cleft lip/palate (2014-2023).
- Data included maternal characteristics, fetal sex, gestational age, anomalies, genetic/pathological evaluations, and outcomes.
Main Results:
- 48 fetuses included; diagnosis often in the second trimester.
- Syndromic clefts (41.7%) showed all chromosomal/genetic abnormalities; isolated clefts (58.3%) had normal genetic tests.
- Pregnancy termination occurred in 18 cases, primarily with associated anomalies.
Conclusions:
- Genetic abnormalities in orofacial clefts were linked to syndromic cases or additional anomalies.
- Isolated clefts showed normal genetic testing, indicating targeted prenatal genetic testing is beneficial.
- Further multicenter studies are needed to standardize protocols for prenatal genetic testing in cleft cases.
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.
