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Congenital anomalies and comorbidities in neonates with Down Syndrome
Nicole Nakousi Capurro1, Carolina Cares Basualto2, Angélica Alegría Olivos3
1Hospital Clínico, Universidad de Chile, Santiago, Chile.
Insights
Neonates with Down syndrome often have congenital anomalies and comorbidities, requiring hospitalization. This study highlights key health issues in Chilean newborns with Down syndrome to improve their care.
Area of Science:
- Neonatal Medicine
- Clinical Genetics
- Pediatric Cardiology
Background:
- Down syndrome prevalence in Chile is 2.5 per 1,000 live births.
- Infants with Down syndrome experience higher rates of congenital anomalies and comorbidities.
- Increased hospitalizations are common in neonates with Down syndrome.
Purpose of the Study:
- To characterize congenital anomalies and comorbidities in neonates with Down syndrome.
- To analyze data from neonates born and/or hospitalized between 2008 and 2018.
- To inform perinatal management and follow-up strategies for this population.
Main Methods:
- Retrospective review of medical records for neonates (0-28 days) from 2008-2018.
- Data collected included maternal age, perinatal history, genetic results, hospitalization details, comorbidities, and outcomes.
- Exclusion of records with over 50% missing data; analysis of associations between comorbidities, anomalies, and mortality.
Main Results:
- 140 neonates diagnosed with Down syndrome (0.2% of newborns).
- High rates of morbidity (83.6%) and hospitalization (90%); common anomalies included heart disease (70.7%).
- Median maternal age was 36, with 57.1% of mothers aged 35+; mortality rate was 2.9%.
Conclusions:
- This cohort provides critical data for optimizing perinatal care for Down syndrome infants.
- Understanding common comorbidities and anomalies is essential for targeted interventions.
- Improved management and follow-up can enhance outcomes for neonates with Down syndrome.
Introduction:
In Chile, Down syndrome has a prevalence of 2.5 in 1,000 live births. These patients present more congenital anomalies and comorbidities than the general population, increasing their hospitaliza tion rate.
Objective:
To describe congenital anomalies and comorbidities of neonates with Down syndrome born and/or hospitalized between 2008 and 2018.
Patients And Method:
We conducted a retrospective review of patient's medical records born and/or hospitalized during their first 28 days of life between January 1st, 2008, and December 31st, 2018. For each patient, we recorded maternal age, familiar cases of Down Syndrome, pre and perinatal history, genetic study result, as well as age at admission, reason for hospitalization, comorbidities, length of stay, and death. Two patients that had more than 50% of incomplete medical records were excluded. We studied the associations between comorbidities, congenital anomalies, and death.
Results:
140 in 79,506 newborns (0.2%) were diagnosed at our center with Down Syndrome in their neonatal period. 24.7% were born preterm and 26.4% had low birth weight for gestational age. Morbidities and hospitalizations were present in 83.6% and 90%, of the study population, respectively. The main reason for hospitalization was polycythemia and the most frequent was hyperbilirubinemia. Four patients died (2.9%) and 70.7% presented at least one congenital anomaly, mainly heart disease. Median maternal age was 36 years and 57.1% of mothers were aged 35 or older.
Conclusions:
This cohort of patients with Down Syndrome provides important information for the optimization of their perinatal management and follow-up.
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