Abstract
We aimed to evaluate the clinical characteristics and the risk factors for the anomalies
of Down's syndrome (DS) patients and reviewed the relation of blood groups of the
patients and the mothers with these anomalies. Pediatric patients who were diagnosed
with trisomy 21 between 2010 and 2022 were enrolled in this study. The medical records
of the DS patients and their parents were retrospectively reviewed. A total of 48
patients applied to our clinic. 24 (50%) patients were diagnosed with congenital heart
disease. 21 (43.75%) patients had hypothyroidism. The distribution of individual congenital
heart defects (CHDs) was as follows: ventricular septal defect in eight (33.3%) patients,
one of which also had patent ductus arteriosus (PDA); atrioventricular septal defects
in seven (29.1%) patients; atrial septal defects in four (16.6%) patients, one of
which also had patent ducus arteriosus; and PDA in five (20.8%) patients. One (4.2%)
patient had tetralogy of Fallot. The incidence of CHD in patients with maternal blood
group A was significantly higher than those without CHD, with a prevalence of 63.6
and 21.1%, respectively (p = 0.020). Binary logistic regression analysis showed that maternal blood group A
was a risk factor for CHDs (odds ratio = 6.563; 95% confidence interval: 1.259–34.204;
p = 0.025). Although we found that the rate of advanced father age was high in hypothyroidism
type, the regression analysis showed that it was not a risk factor. We found that
maternal blood group A increased the likelihood of being born with CHDs in DS.
Keywords
Down's syndrome - congenital heart defects - hypothyroidism - maternal blood group
A
