Screening Recommendations for a 2-Day-Old Newborn with Down Syndrome
All newborns with Down syndrome require immediate cardiac screening with echocardiography within the first month of life, along with a complete blood count to screen for transient myelodysplasia and leukemia risk. 1
Cardiac Screening (Highest Priority)
Echocardiography is mandatory and should be performed in the first month of life for all neonates with Down syndrome. 2 This is the most critical initial evaluation because:
- Congenital heart disease occurs in 40% of infants with Down syndrome, making cardiac screening the single most important screening at this stage 1
- Physical examination alone has a sensitivity of only 53-80% for detecting cardiac defects, missing significant lesions that require early surgical intervention 3, 4
- Complete atrioventricular canal defects ideally require surgical intervention before 6 months of age, making early detection essential 5
- Physical examination combined with ECG and chest X-ray misses approximately 5% of major cardiac defects, though most of these resolve spontaneously 6
While physical examination, ECG, and chest X-ray can detect 95% of major cardiac defects, echocardiography remains the gold standard and should not be replaced by these screening methods alone. 6, 4
Hematologic Screening
Obtain a complete blood count immediately to screen for transient myelodysplasia of the newborn, which is common in trisomy 21 1
- Children with Down syndrome have a 20-fold increased risk of developing leukemia compared to the general population, requiring vigilant hematologic monitoring 1, 7
- This baseline CBC establishes a reference point for future monitoring 7
Genetic Confirmation
Chromosome analysis (karyotype) should be performed if not already completed prenatally to confirm the diagnosis and identify the specific chromosomal abnormality 1
- Approximately 95% of cases result from free trisomy 21, but identifying translocations is critical for genetic counseling regarding recurrence risk 1
- Genetic counseling should be provided to discuss recurrence risk, especially if there is a family history suggesting familial translocation 1
Additional Screening Considerations at This Stage
Gastrointestinal evaluation should be performed if there are any clinical signs, as 5% of Down syndrome cases present with gastrointestinal anomalies such as duodenal atresia or Hirschsprung disease 7
Immediate Referrals
- Pediatric geneticist for diagnostic confirmation and comprehensive care coordination 1
- Pediatric cardiology for echocardiographic evaluation and management 1
- Pediatric hematologist/oncologist for monitoring due to leukemia risk 1
- Early intervention services to optimize developmental outcomes 1
Common Pitfalls to Avoid
- Do not rely on physical examination alone to rule out congenital heart disease—the negative predictive value is only 59%, meaning 41% of normal exams will miss cardiac defects 3
- Do not delay echocardiography even if the physical examination is normal, as 15 patients in one study had normal exams but abnormal echocardiograms, with nine eventually requiring surgery 3
- Do not assume all cardiac defects will be clinically apparent—secundum atrial septal defects and patent ductus arteriosus are frequently missed on clinical examination 4