[Current situation of neonatal screening for congenital hypothyroidism: criticisms and perspectives]

Area of Science:

• Endocrinology
• Neonatal screening
• Public health

Context:

• Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability.
• Neonatal screening programs aim for early detection and treatment to mitigate neurocognitive deficits.
• Brazil has implemented national neonatal screening for three decades across all states.

Purpose:

• To evaluate the effectiveness and identify challenges within Brazil's National Program for Neonatal Screening (NPNS).
• To analyze screening data, including sample collection timing and diagnostic turnaround times.
• To propose strategies for improving early detection and treatment of CH.

Summary:

• Brazilian neonatal screening for CH involves 81.61% of newborns, but sample collection often exceeds the ideal 7-day window.
• Significant delays exist in specimen transport, TSH determination, results release, and patient notification.
• Lowering the TSH cutoff value to 6 mUI/L may decrease false negatives, enhancing diagnostic accuracy.

Impact:

• Timely diagnosis and treatment of CH are essential for preventing irreversible neurocognitive impairment.
• Addressing logistical delays in the NPNS is critical to achieving optimal health outcomes for newborns.
• Optimizing screening protocols and TSH cutoff values can improve the early detection rates and management of CH.