What are appropriate screening tests for infants and children?

There are many opinions and recommendations about what constitutes quality health surveillance for children. However, many screening tests for children lack evidence of effectiveness and information on harms.¹ The scope of this question required use of evidence published in high-quality systematic reviews. The US Preventive Services Task Force (USPSTF) provides the most rigorous evidence on which to base recommendations.² Medline was searched for any additional individual studies of interest. The USPSTF has conducted reviews for selected screening tests for children; the TABLE summarizes those with sufficient evidence to recommend them. We identified 1 additional evidence-based recommendation from the Centers for Disease Control and Prevention. This report, based on a systematic review, recommends cystic fibrosis screening in neonates based on moderate benefits and low risks of harm.³ The TABLE summarizes the evidence supporting universal childhood screening for hemoglobinopathies, congenital hypothyroidism, phenylketonuria, and visual defects; and high-risk childhood screening for tuberculosis and lead toxicity. The TABLE also lists the recommendations from the American Academy of Pediatrics (AAP) on frequency and timing of screening as guided by consensus opinion. The USPSTF recommendations supporting screening for hemoglobinopathies, congenital hypothyroidism, and phenylketonuria are considered standard of care. The USPSTF believes that updating these 1996 recommendations would have little impact on clinical practice. The USPSTF recommendations supporting vision screening found no direct evidence supporting screening for visual acuity. One fair-quality controlled study (N=3490) showed a decreased prevalence of amblyopia in the screened group and evidence that treatment of amblyotic risk factors prevents amblyopia. A Cochrane review of this topic showed insufficient evidence for visual screening of older (school-aged) children; for amblyopia, no data sufficient for analysis was found.^4,5 The USPSTF recommendation to screen asymptomatic high-risk children for TB is based on the effectiveness of early intervention (14 controlled trials) and the accuracy of the Mantoux test. The USPSTF document on screening for lead levels is currently being revised and the recommendation may change. Although no controlled studies directly show that screening high-risk children for lead exposure improves clinical outcomes, several lesser-quality studies create a logical path to this conclusion. The USPSTF finds there is insufficient evidence to recommend for or against performing the following screening tests in children: blood pressure screening; screening for overweight in children and adolescents; and iron deficiency screening in asymptomatic infants. Both Cochrane Systematic Reviews and USPSTF found insufficient evidence to support universal hearing screening, including neonatal hearing screening.⁶ The USPSTF makes no recommendation regarding screening high-risk children for hyperlipidemia. The USPSTF recommends that the following tests should not be performed in children because there is good evidence that the harms outweigh the benefits: thyroid cancer screening in children and bacteriuria screening in asymptomatic nonpregnant children.