Newborn Screening for Critical Congenital Heart Disease Reaches Every State, 2011–2018

This page summarizes a report in CDC's MMWR by CDC, the American Academy of Pediatrics (AAP), the Association of Public Health Laboratories' NewSTEPs program and state partners, covering policies through 2018.

Why screen

Critical congenital heart disease (CCHD) occurs in about two of every 1,000 births and may not be detected at birth. Congenital heart defects occur in about eight of every 1,000 live births, and about a fourth of those babies have CCHD, which usually needs surgery or a catheter procedure before age 1. Without early detection, affected infants risk serious illness and death in their first weeks and months.

In 2011 the Secretary of Health and Human Services endorsed the Advisory Committee on Heritable Disorders in Newborns and Children's recommendation to add CCHD to the recommended universal newborn screening panel. Screening can find affected newborns before symptoms appear and before they go home from the hospital, supplementing clinical detection.

How it works: pulse oximetry, a noninvasive measurement of oxygen saturation in the baby's arterial blood. Low oxygen (hypoxemia) can come from CCHD or other causes, so an abnormal screen is followed by tests such as a chest radiograph or echocardiogram.

It saves lives: in eight states that fully implemented mandatory screening by June 2013, deaths from CCHD and other cardiac causes in infants under 6 months declined significantly, based on 2007–2013 data.

Every state on board

CDC, AAP and NewSTEPs tracked state statutes, regulations and other policies, counting a policy as implemented when providers were expected or required to begin universal screening, which can lag the law. Maryland, for example, enacted a mandate in May 2011 that took legal effect in July 2011, but providers were required to screen only from September 1, 2012, once regulations were issued.

• Jurisdictions with CCHD screening policies rose from 22 in 2013 to 51 in 2018: all 50 states and D.C.
• All mandate screening except California, which mandates that screening be offered.
• 39 (76%) acted through statutes; the other 12 used regulations alone.

Policies vary:

• Colorado (2015) mandated screening for babies born in birthing centers below 7,000 feet, since babies born higher typically have lower normal oxygen levels not yet built into screening guidelines; a year later it required midwives at home births to screen or refer parents to a physician or facility.
• Kansas, which ran a successful voluntary screening project from 2013, added CCHD to its required panel by regulation in early 2018.
• Idaho regulations from July 2018 require screening of every newborn, including those born outside a hospital or birthing center.

The data gap

Policies are in place, but data collection lags. In 2014, 24 of 43 states with screening policies collected data; by 2017, 41 of 49 did. In 2018:

Sharing between programs. Only 19 jurisdictions (37%) shared data between birth defects surveillance programs, which track CCHD cases however they are found, and newborn screening programs: 5 through electronically linked systems, 2 through a shared system, and 12 by hand. Shared data are used to find cases screening missed, reconcile case lists, and follow up infants after diagnosis; six jurisdictions did all three. Among the 32 that did not share, reasons included having no birth defects surveillance program (5), lacking individual-level pulse oximetry data (10) and unlinked data systems (17).

Why it matters

Individual-level screening and outcome data are needed to evaluate and refine screening algorithms, which set how a baby passes or fails and help track false positives and negatives. Linking screening with birth defects surveillance lets states assess the whole process: adherence to the algorithm, sensitivity and specificity, and the outcomes and needs of affected children and families. In Minnesota, for example, screening and birth defects staff share one data system, so screen-detected infants are quickly reported for diagnostic confirmation and connection to resources, and cases found other ways can be checked for their screening results.

Limitations

• Exact dates and the reading of statutes and regulations were hard to pin down, so some details may vary slightly.
• Survey answers came from each jurisdiction's screening contact and were not independently verified.

Sources

• Glidewell J, Grosse SD, Riehle-Colarusso T, et al. "Actions in Support of Newborn Screening for Critical Congenital Heart Disease — United States, 2011–2018." MMWR 68(5). https://www.cdc.gov/mmwr/volumes/68/wr/mm6805a3.htm