Co‐occurring anomalies in congenital oral clefts

• Published in: American journal of medical genetics. Part A 2022-06, Vol.188 (6), p.1700-1715
• Main Authors: Stoll, Claude, Alembik, Yves, Roth, Marie‐Paule
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; associated anomalies; Births; Cardiovascular system; Central nervous system; Chromosome Aberrations; Chromosome deletion; cleft lip; Cleft Lip - complications; Cleft Lip - epidemiology; Cleft Lip - genetics; cleft lip and palate; Cleft lip/palate; cleft palate; Cleft Palate - complications; Cleft Palate - epidemiology; Cleft Palate - genetics; congenital anomalies; Congenital defects; Female; Heart Defects, Congenital - complications; Heart Defects, Congenital - epidemiology; Heart Defects, Congenital - genetics; Humans; Musculoskeletal Diseases; Musculoskeletal system; oral clefts; Pregnancy; Prevalence; Trisomy
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62689

Oral clefts (OCs) are frequently co‐occurring with other non‐OC congenital anomalies. The types and the prevalence of anomalies co‐occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co‐occurring with OCs in a well‐defined population. The types and the prevalence of anomalies co‐occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979–2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non‐OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.