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Down Syndrome: From Pregnancy through Childhood in Türkiye

Elif Yilmaz Gulec1,2, Sena Cetin2, Mustafa Gunes2

  • 1Department of Medical Genetics, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Türkiye.

Molecular Syndromology
|June 3, 2026
PubMed

Insights

This study reviews 324 children with Down syndrome (DS), detailing common and rare conditions from infancy through childhood. Early diagnosis and management of congenital malformations and developmental delays are crucial for DS care.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Down syndrome (DS) is a leading genetic cause of congenital malformations and intellectual disability.
  • Clinical presentations and management of DS vary globally.
  • Understanding regional characteristics is vital for effective patient care.

Purpose of the Study:

  • To present a medical geneticist's perspective on Down syndrome care.
  • To summarize prenatal and postnatal characteristics of patients followed at a specific clinic.
  • To contribute to the understanding of Down syndrome in Türkiye.

Main Methods:

  • A retrospective analysis of medical records for 324 children with Down syndrome.
  • Data collected over a 10-year period (2010-2021).
  • Evaluation included karyotype, congenital malformations, organic disorders, developmental milestones, and growth parameters.

Main Results:

  • The cohort consisted of 324 children, with 95% having trisomy 21.
  • Common conditions included congenital heart defects (57.5%), hypothyroidism (39%), and neonatal hyperbilirubinemia (19.7%).
  • Rare conditions such as epilepsy and nephrolithiasis were also documented.

Conclusions:

  • This cohort provides insights into the clinical features of Down syndrome in Türkiye.
  • Comprehensive knowledge of DS management is essential for medical teams.
  • Childhood care, focusing on early diagnosis and treatment of malformations and developmental delays, is critical.
Abstract

Keywords:
Down syndromePostnatal findingsPrenatal findingsRare featuresTrisomy 21

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