Where to refer a baby with suspected trisomy 21 (Down syndrome)?

Referral Pathway for a Baby with Suspected Trisomy 21 (Down Syndrome)

A baby with suspected trisomy 21 should be referred to a pediatric geneticist for diagnostic confirmation and comprehensive care coordination, with additional referrals to pediatric cardiology, hematology, and early intervention services as needed. 1

Initial Diagnostic Confirmation

• Babies with suspected Down syndrome based on physical features should undergo chromosome analysis (karyotype) to confirm the diagnosis if not already completed prenatally 1
• Referral to a pediatric geneticist is essential for diagnostic confirmation, comprehensive evaluation, and coordination of care 1
• Genetic counseling should be provided to the family to discuss recurrence risk, especially if there is a family history of multiple individuals with Down syndrome (which may indicate a familial translocation) 1

Immediate Medical Evaluation

• Urgent referral to pediatric cardiology is necessary as congenital cardiac defects are highly specific for Down syndrome 2
• Complete blood count should be obtained to screen for transient myelodysplasia of the newborn, which is common in trisomy 21 3, 4
• Gastrointestinal evaluation is required as 5% of cases present with anomalies such as duodenal atresia or Hirschsprung disease 3, 2

Multidisciplinary Care Team Referrals

• Pediatric surgeon consultation if gastrointestinal anomalies are detected (duodenal atresia is highly specific for Down syndrome) 5, 2
• Pediatric hematologist/oncologist for monitoring due to significantly higher risk (20 times) of developing leukemia compared to the general population 3, 4
• Otolaryngologist and audiologist for evaluation of hearing, as infants with Down syndrome are more likely to have otitis media 2
• Ophthalmologist to screen for congenital cataracts and other eye abnormalities 2
• Endocrinologist for thyroid function assessment, as thyroid disease is more common in this population 2

Early Intervention Services

• Referral to early intervention programs for developmental support should be initiated as soon as possible 2, 6
• Physical, occupational, and speech therapy evaluations to minimize developmental delays 2
• Feeding specialist if feeding difficulties are present 2
• Dental evaluation for oral health assessment and management 2

Family Support

• Connection to local Down syndrome support groups and organizations 2, 6
• Psychological support services for the family to address psychosocial aspects of care 2
• Social work consultation to help navigate available resources and services 6

Long-term Follow-up Planning

• Establish a medical home with a primary care provider experienced in caring for children with Down syndrome 2, 4
• Schedule regular follow-up appointments with specialists based on individual needs 3, 4
• Develop a long-term monitoring plan for neurological assessment, as adults with Down syndrome have increased risk of Alzheimer's disease 3

Common Pitfalls to Avoid

• Delaying referrals while waiting for complete diagnostic confirmation can postpone critical early interventions 6
• Focusing solely on the genetic diagnosis without addressing associated medical conditions can lead to missed opportunities for early treatment 2, 4
• Failing to provide comprehensive support to families, which is essential for optimal outcomes 2, 6
• Underestimating the capabilities of children with Down syndrome, which can limit their potential for development and integration 5, 6