Supplementary Material for: Down syndrome, from pregnancy through childhood in Turkiye

Introduction: Down Syndrome is the most common genetic cause of multiple congenital malformations and intellectual disability. The prevalence of the disorder and of the malformations accompanying, prenatal and postnatal features, and approach to the syndrome vary in different parts of the world. We aimed to share our experience with Down Syndrome from pregnancy to childhood, from the view of clinical geneticist and summarized the prenatal and-postnatal features and approach in our part.
Methods: We revised our ten years records of patients with Down syndrome followed between 2010-2021. Patient data such as sex, karyotype, follow-up period, and age at first and last visit, congenital malformations, organic disorders, prenatal screening data, neonatal history and neuromotor developmental milestones, growth parameters were evaluated.
Results: 324 children with Down Syndrome were evaluated, 95 % (308) had regular trisomy 21. The mean age at admission was 6.09 +/- 1.99 months (m), the patients were followed for an average of 32.7 +/- 3.97 m. 51% of the neonates and 53.5% overall were hospitalized. While common disorders such as congenital heart defects (57.5%), neonatal hyperbilirubinemia (19.7%), hypothyroidism (39%), rare conditions such as polydactyly, Ebstein anomaly, epilepsy, epileptic encephalopathy, nephrolithiasis and cholelithiasis were also reported.
Conclusion: We have tried to summarize the features seen in Turkiye through our cohort. The medical teams need to know much about Down Syndrome. The childhood constitutes a critical period in Down syndrome regarding the early diagnosis and treatment of inborn malformations and management of developmental delay.