What should a midwife (midwife) do if a newborn delivered at home has a suspected diagnosis of Down syndrome but the parents are refusing genetic (genetics) involvement?

Midwife Management of Suspected Down Syndrome with Parental Refusal of Genetic Testing

The midwife should proceed with immediate referral to a pediatrician for comprehensive newborn evaluation and coordinate subspecialty consultations for cardiac screening and other medical assessments, regardless of parental refusal of genetic testing, as the infant requires urgent medical evaluation for potentially life-threatening conditions associated with Down syndrome. 1

Immediate Medical Priorities

The midwife must understand that genetic testing refusal does not eliminate the need for critical medical screening. The following evaluations are essential and should be pursued independently of genetic confirmation:

Cardiac Evaluation (Most Critical)

• Arrange immediate pediatric cardiology referral or echocardiogram, as 40% of infants with Down syndrome have congenital heart disease, which represents the most critical initial evaluation 2, 1
• Cardiac defects can be life-threatening if undetected and require urgent identification regardless of genetic testing status 2

Hematologic Screening

• Obtain complete blood count to screen for transient myelodysplasia of the newborn, which is common in trisomy 21 1
• Document that children with Down syndrome have a 20-times increased risk of childhood leukemia compared to the general population, requiring hematology follow-up 2, 1

Gastrointestinal Assessment

• Evaluate for gastrointestinal anomalies, as 5% have conditions such as duodenal atresia or Hirschsprung disease that require surgical intervention 2

Approach to Parental Refusal

Reframe the Discussion

The midwife should separate genetic testing from medical care, explaining that:

• Physical examination findings suggesting Down syndrome indicate the need for specific medical screening regardless of genetic confirmation 2
• The infant requires evaluation for associated medical conditions (heart defects, blood disorders) that are independent of whether parents want genetic testing 1
• Medical management does not require genetic confirmation when clinical features are present 2

Genetic Counseling Referral

• Offer genetic counseling as a separate service from genetic testing, emphasizing it provides information about the condition, prognosis, medical management, and recurrence risk without requiring the parents to consent to testing 2
• Genetic counseling is particularly important if there is a family history of multiple individuals with Down syndrome, which may indicate a familial translocation affecting recurrence risk 2, 1

Documentation and Communication

Transfer of Care

• Document all clinical findings suggesting Down syndrome (hypotonia, dysmorphic features including upslanting palpebral fissures, epicanthal folds, flat nasal bridge, Brushfield spots, shortened incurving fifth finger, transverse palmar crease) 2
• Clearly communicate concerns to the receiving pediatrician, emphasizing the need for cardiac and hematologic evaluation 1
• Document parental refusal of genetic testing while noting acceptance or refusal of medical screening 2

Establish Pediatric Care

• Ensure the infant has a pediatrician who can coordinate long-term monitoring, including neurological assessment for increased Alzheimer's disease risk in adulthood 1
• Arrange follow-up appointments with specialists based on individual needs identified during initial screening 1

Critical Caveats

Respect Autonomy While Ensuring Safety

• Parents have the right to refuse genetic testing, but the midwife has a professional obligation to ensure the infant receives appropriate medical screening for potentially life-threatening conditions 2
• The absence of genetic confirmation does not change the clinical management when physical features strongly suggest Down syndrome 2

Most Common Pitfall

The most dangerous error is allowing parental refusal of genetic testing to delay or prevent critical cardiac and hematologic screening. These evaluations must proceed based on clinical suspicion alone, as congenital heart disease and blood disorders require immediate identification and management 2, 1

Long-term Considerations

• Even without genetic confirmation, infants with clinical features of Down syndrome require monitoring for the full spectrum of associated conditions 1
• Early intervention services should be offered, as systematic support during childhood improves cognitive function and autonomy in adulthood 1