Screening for maternal coeliac disease as a potential risk factor for orofacial clefts--a pilot study

Area of Science:

• Medical Research
• Genetics and Epigenetics
• Public Health

Background:

• Folic acid deficiency during pregnancy is a suspected risk factor for orofacial clefts, specifically cleft lip with or without cleft palate (CL±P).
• Celiac disease is a prevalent condition causing folic acid malabsorption, often remaining undiagnosed.
• Understanding the link between undiagnosed celiac disease, folic acid levels, and CL±P risk is crucial for preventative strategies.

Purpose of the Study:

• To investigate the seroprevalence of undiagnosed celiac disease in mothers of infants diagnosed with CL±P.
• To assess the potential association between celiac disease and the occurrence of CL±P in a specific Indian population.
• To evaluate if celiac disease contributes significantly to CL±P risk via folic acid malabsorption in the Hyderabad region.

Main Methods:

• A pilot study was conducted on a cohort of mothers with infants exhibiting CL±P in Hyderabad, India.
• Serological testing was employed to determine the prevalence of undiagnosed celiac disease within this cohort.
• The observed seroprevalence was compared against established population-based figures for celiac disease.

Main Results:

• The seroprevalence of celiac disease among mothers of infants with CL±P was found to be 1.15% (95% CI: 0.37-2.66%).
• This prevalence rate was comparable to expected figures from existing population studies.
• No statistically significant increase in celiac disease seroprevalence was detected in the study group.

Conclusions:

• The findings suggest that undiagnosed celiac disease is unlikely to be a major contributing factor to CL±P in the studied Indian population.
• The observed seroprevalence indicates that the association between celiac disease and CL±P, if any, is not clinically significant in this context.
• Further research may be needed to explore other etiological factors for CL±P, considering the low prevalence of celiac disease in mothers of affected infants.