Newborn Screening Finds About 12,900 U.S. Babies a Year With Serious Conditions

Newborn screening (NBS) checks babies soon after birth for congenital disorders that do better with early treatment. States are encouraged to screen for the disorders on the national Recommended Uniform Screening Panel (RUSP), which grew from 29 disorders in 2005 to 35 in 2018: hearing loss and critical congenital heart defects, found by bedside screening, and 33 disorders found by testing a few dried blood spots from the baby's heel.

A team from the Association of Public Health Laboratories, CDC and the Colorado School of Public Health, led by Marci K. Sontag, produced the first national count based on cases reported by all 50 states, for babies born in 2015–2017. The previous estimate, for 2006, had been modeled from just four states' data.

How they counted

• States reported confirmed cases of 32 blood-spot disorders to the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), a federally funded data repository run by the Association of Public Health Laboratories, using uniform case definitions.
• Hearing loss cases came from 48 states' reports to CDC's Early Hearing Detection and Intervention survey.
• The three forms of sickle cell disease were counted as one disorder. Critical congenital heart defects (few states require reports) and spinal muscular atrophy (added to the panel later) were left out, and D.C. was excluded for lack of blood-spot data.
• Rates for 2015–2017 were applied to the 3,791,712 U.S. births in 2018 to estimate yearly numbers.

The results

34.0 per 10,000 births — about 12,900 infants a year (6,646 through blood-spot testing and 6,259 with hearing loss).

Selected disorders; the report covers 33. "New" disorders were added to the panel after 2006 and screened in only some states during the study. Source: CDC, MMWR.

Changes since 2006

The overall rate rose 33%, from 25.5 per 10,000 in 2006, with 78% of that increase from hearing loss.

• Hearing loss cases rose from an estimated 4,097 in 2006 to an expected 6,259 in 2018, likely reflecting better follow-up documentation by hearing programs.
• Blood-spot disorders rose only slightly in number, 3.2%, from 6,439 in 2006 to 6,646 — even though four newly added disorders account for about 459 cases a year. Rising rates were largely offset by a marked drop in U.S. births after 2006. The blood-spot rate itself rose from 15.6 to 17.5 per 10,000.
• Cystic fibrosis fell, possibly because widespread newborn and prenatal screening and reproductive counseling have reduced births with the disease.
• Congenital hypothyroidism rose, possibly continuing a long-term trend linked partly to a larger share of births to Hispanic parents.
• Sickle cell disease rose, possibly reflecting more births to parents from countries where it is relatively common.

Rates also varied among states, reflecting both genetics and differences in screening methods, case definitions, follow-up and reporting.

Limitations

• Rates for the newest disorders rest on a few states over a short time.
• Two panel disorders weren't included.
• Not all programs applied the uniform case definitions.
• Babies born in one state and screened in another can skew state figures, though not national ones.

Newborn screening, the authors conclude, remains one of public health's great successes, offering early detection and treatment to every baby regardless of where they are born, their race or ethnicity, or their family's income.

Sources

Based on Sontag MK, Yusuf C, Grosse SD, et al., "Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017," MMWR, Centers for Disease Control and Prevention; in the public domain.