Genetic diagnosis of Down syndrome in an underserved community

Area of Science:

• Genetics
• Medical Genetics
• Public Health

Background:

• Infants with Down syndrome (DS) in high-income countries routinely receive genetic testing for diagnosis and support.
• Families in low- and middle-income nations face significant barriers to accessing genetic diagnosis and care for DS.
• Barriers include economic disparities, geographical isolation, and limited access to trained genetic healthcare professionals.

Purpose of the Study:

• To provide genetic testing and counseling for individuals with Down syndrome (DS) in resource-limited Caribbean communities.
• To address the lack of access to medical genetics services in these regions.
• To investigate recurrent DS cases and provide familial genetic counseling.

Main Methods:

• A combined research and community outreach effort was undertaken.
• Genetic testing, including karyotyping, was provided to patients with features suggestive of DS.
• Karyotype analysis was used to rule out translocation events in families with recurrent DS.

Main Results:

• Genetic testing was successfully provided to several individuals with DS and their families on resource-limited Caribbean islands.
• Karyotype analysis confirmed that translocation events were not involved in the DS cases within the studied families.
• This diagnostic information facilitated genetic counseling regarding recurrent DS risks.

Conclusions:

• A definitive Down syndrome diagnosis is highly beneficial for families in resource-limited settings.
• Access to genetic testing and counseling can provide reassurance, peace of mind, and informed understanding of DS.
• Addressing healthcare disparities is essential for improving care for families affected by genetic conditions globally.