Neonatal screening and genetic counseling for sickle cell trait

Area of Science:

• Genetics
• Pediatrics
• Public Health

Background:

• Newborn screening programs identify infants with abnormal hemoglobins, including sickle cell trait (hemoglobin AS or AC).
• Genetic counseling is offered to parents of infants identified with hemoglobin variants to enhance understanding and management.
• Parental acceptance and retention of information regarding sickle cell disorders vary, impacting program efficacy.

Purpose of the Study:

• To assess the impact of genetic counseling on parental knowledge of sickle cell disorders.
• To evaluate the retention of knowledge among parents who received counseling.
• To compare knowledge levels between counseled and uncounseled families, including those with normal hemoglobin and sickle trait.

Main Methods:

• A cohort of 91 infants with hemoglobin AS or AC was identified through newborn screening.
• Parental knowledge of sickle cell disorders was assessed before and after genetic counseling sessions.
• Knowledge assessments were repeated when infants were 4-8 months old, with comparisons to control groups (uncounseled parents).

Main Results:

• Parents who received genetic counseling demonstrated a significant increase in knowledge about sickle cell disorders.
• This increased knowledge was retained at a 4-8 month follow-up, though some parents did not recall the initial session.
• Uncounseled parents of infants with sickle cell trait generally possessed more knowledge than parents of infants with normal hemoglobin.

Conclusions:

• Newborn hemoglobin screening can be beneficial for parental education regarding sickle cell disorders.
• The effectiveness of screening programs is influenced by parental acceptance of genetic counseling.
• Further strategies may be needed to engage all eligible families and maximize the benefits of newborn screening for hemoglobinopathies.