Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study

• Published in: Journal of clinical medicine Vol. 13; no. 16; p. 4804
• Main Authors: Brăila, Anca Daniela, Damian, Constantin Marian, Albu, Cristina-Crenguţa, Botoacă, Oana, Dȋră, Laurențiu Mihai, Albu, Ştefan-Dimitrie, Brăila, Matei Georgian, Bănățeanu, Andreea-Mariana, Poalelungi, Cristian-Viorel, Bogdan-Andreescu, Claudia Florina
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 15.08.2024; MDPI
• Subjects: 3D ultrasound imaging; Amniocentesis; Amniotic fluid; Birth defects; cleft lip and palate; Consent; Fetuses; Genetic counseling; genetic tests; Gestational age; Pregnancy; prenatal diagnosis; Ultrasonic imaging; Bucharest Romania; Romania
• ISSN: 2077-0383; 2077-0383
• DOI: 10.3390/jcm13164804

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.