Risk factors for cleft lip and palate in the Czech population - a double center study

Area of Science:

• Medical Genetics
• Public Health
• Congenital Anomalies

Background:

• Orofacial clefts (OFC) are common congenital anomalies with complex genetic and environmental causes.
• The specific roles of various risk factors in OFC type and severity are not well understood.

Purpose of the Study:

• To investigate the association between maternal health factors (BMI, age, infection, stress, prenatal vitamins) and OFC occurrence/severity in the Czech Republic.
• To evaluate the effectiveness of prenatal ultrasound diagnosis for different cleft types.

Main Methods:

• A survey of 96 parents of children with nonsyndromic OFC in the Czech Republic (2017-2024) using the RoRis online questionnaire.
• Statistical analysis using Fisher's exact test (alpha = 0.05).

Main Results:

• Prenatal diagnosis by ultrasound detected 55% of OFC cases, with high rates for bilateral (100%) and unilateral (93%) cleft lip and palate, but low rates for cleft palate only (12% detected).
• No significant associations were found between cleft type/severity and parental age, maternal BMI, medication use, infection with fever, or stress.
• Most mothers had normal BMI (51%), 85% used prenatal supplements, and 13 reported COVID-19 infection without a clear link to cleft severity.

Conclusions:

• No significant associations were identified between the studied exogenous factors and OFC type or severity.
• Prenatal ultrasound screening has limitations, particularly for detecting cleft palate only.
• Further research into modifiable risk factors for orofacial clefts is needed.