Parents' Experiences and Needs Regarding Infant Sickle Cell Trait Results.

Area of Science:

• Genetics and Genetic Diseases
• Pediatrics
• Public Health

Background:

• Sickle cell trait (SCT) has reproductive implications and can rarely cause health issues.
• SCT counseling enhances parental knowledge but is less common for children with SCT than cystic fibrosis carriers.
• Lack of national guidelines for SCT disclosure timing, frequency, and content necessitates understanding parental experiences.

Purpose of the Study:

• To explore parents' experiences with and desires for sickle cell trait disclosure and counseling for their infants identified via newborn screening.

Main Methods:

• Semistructured interviews were conducted with parents of infants (2-12 months) with SCT identified through newborn screening.
• Inductive thematic analysis was used to analyze interview data.

Main Results:

• Most parents received SCT disclosure shortly after birth, in person, from their child's physician.
• Key themes included parental knowledge, family planning, disclosure dynamics, emotional responses, and desires for the process.
• Parents desire more comprehensive SCT information, especially regarding rare symptoms, and wish for counseling to be repeated as children approach adolescence.

Conclusions:

• Parents receive SCT diagnoses early but report incomplete information.
• Opportunities exist within primary care pediatrics to improve SCT disclosure timing and counseling content to better meet parental needs.