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Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study
Anca Daniela Brăila1, Constantin Marian Damian1, Cristina-Crenguţa Albu2
1Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Insights
Cleft lip and palate often occur with other congenital anomalies. This study found over half of prenatal cases were syndromic, highlighting the need for comprehensive genetic evaluation.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Congenital Anomalies
Background:
- Cleft lip and/or palate are common congenital anomalies requiring timely diagnosis.
- Accurate diagnosis is crucial for effective patient management and care.
Purpose of the Study:
- To investigate the association between cleft lip and palate and other congenital anomalies.
- To analyze syndromic and non-syndromic cases diagnosed prenatally.
Main Methods:
- Retrospective cohort study of 17 pregnancies with prenatal cleft lip and palate diagnosis.
- Utilized ultrasound, fetal karyotyping via amniocentesis, and family tree analysis.
- Parental karyotyping was performed when fetal karyotype was abnormal.
Main Results:
- 9 out of 17 (52.94%) cases were syndromic; 8 (47.06%) were non-syndromic.
- Identified genetic syndromes included translocation syndrome (1), Patau syndrome/trisomy 13 (7), and Edwards syndrome/mosaic trisomy 18 (1).
Conclusions:
- A comprehensive diagnostic approach is essential for thorough assessment.
- Early detection and multidisciplinary management improve patient outcomes for cleft lip and palate cases.
Abstract:
Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.
