Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

Area of Science:

• Medical research
• Genetics
• Developmental biology

Background:

• Orofacial clefts, including cleft palate (CP) and cleft lip with or without cleft palate (CL±P), are common birth defects.
• Understanding co-occurring anomalies is crucial for diagnosis and research into developmental mechanisms.

Purpose of the Study:

• To investigate patterns of 2- to 5-way defect co-occurrences with orofacial clefts.
• To identify non-random associations between specific congenital anomalies and CP or CL±P in infants without known syndromes.

Main Methods:

• Utilized data from the Texas Birth Defects Registry (1999-2014).
• Analyzed 1884 CP cases and 5289 CL±P cases without known syndromes.
• Calculated adjusted observed-to-expected (O/E) ratios to identify significant defect patterns.

Main Results:

• 23% of CP and 21% of CL±P infants had at least one additional anomaly.
• Identified several defect combinations occurring more frequently than expected.
• Top co-occurrence patterns for both CP and CL±P involved craniofacial, brain, skeletal, cardiovascular, and renal system abnormalities.

Conclusions:

• Observed defect patterns provide insights into the relationships between multiple congenital anomalies.
• Further investigation of high-ratio defect combinations may reveal new phenotypic subgroups.
• Enhanced understanding of these developmental mechanisms can improve knowledge of orofacial clefts and associated conditions.