Clinical Profile of Newborns with Down Syndrome: A Single-center Retrospective Analysis: Clinical Profile of Newborns with Down Syndrome

Hüseyin Şimşek; Şefika Aldaş; Mustafa Akçalı; Berran Biçer; Mehtap Durukan Tosun

doi:10.4274/jpea.2025.474

Authors

Hüseyin Şimşek University of Health Sciences Türkiye, Mersin City Training and Research Hospital, Clinic of Pediatrics, Mersin, Türkiye https://orcid.org/0000-0002-3453-6802
Şefika Aldaş University of Health Sciences Türkiye, Mersin City Training and Research Hospital, Clinic of Pediatrics, Mersin, Türkiye https://orcid.org/0009-0006-9222-6163
Mustafa Akçalı University of Health Sciences Türkiye, Mersin City Training and Research Hospital, Clinic of Pediatrics, Mersin, Türkiye https://orcid.org/0000-0002-0496-542X
Berran Biçer University of Health Sciences Türkiye, Mersin City Training and Research Hospital, Clinic of Pediatrics Nurses, Mersin, Türkiye https://orcid.org/0009-0002-0273-6794
Mehtap Durukan Tosun University of Health Sciences Türkiye, Mersin City Training and Research Hospital, Clinic of Pediatrics, Mersin, Türkiye https://orcid.org/0000-0002-4041-2777

DOI:

https://doi.org/10.4274/jpea.2025.474

Keywords:

Down syndrome, hypothyroidism, congenital heart disease, newborn

Abstract

Down syndrome (DS) is a genetic disorder characterized by intellectual disability and characteristic facial features. This study aimed to evaluate the demographic and clinical characteristics of newborns with a genetically confirmed diagnosis of DS who were admitted to the neonatal intensive care unit (NICU). This retrospective, descriptive study included 28 newborns with genetically confirmed DS who were admitted to the NICU of a tertiary care hospital between February 1, 2017, and April 30, 2025. Demographic and clinical data including sex, gestational age, birth weight, maternal and paternal ages, length of hospital stay, need for mechanical ventilation (MV) presence of congenital heart disease (CHD), hypothyroidism, prematurity, renal and abdominal ultrasonography (USG) findings, white blood cell (WBC) and platelet counts, and 1st- and 5th-minute APGAR scores were retrospectively reviewed. Of the 28 newborns, 53.6% were male and 46.4% were female. Prematurity occurred in 60.7% of cases. The mean gestational age was 35.5±2.9 weeks and the mean birth weight was 2590±619 g. Cesarean section was the delivery method in 78.6% of cases. The mean maternal and paternal ages were 36.5±6.6 and 41.5±6.5 years, respectively, with 71.4% of mothers aged over 35 years. CHD was detected in 96.4% of newborns, hypothyroidism in 53.6%, and pathological renal USG findings in 32.1%. CHD, hypothyroidism, and pathological renal USG findings were detected in 96.4%, 53.6%, and 32.1% of newborns, respectively. MV was required in 71.4% of patients, with a mean duration of 2±8.3 days. The mean hospital stay was 21.5±17.7 days. WBC counts were mostly normal, whereas thrombocytopenia occurred in 53.6% of subjects. Surfactant therapy was administered to one patient, and 50% of patients were diagnosed with sepsis. Two patients died during follow-up. Newborns with DS may present with multiple systemic complications at birth. Early detection of comorbidities, particularly CHD and endocrine disorders, is essential for treatment planning. Understanding neonatal characteristics in these patients may inform long-term management.