Mandatory Newborn Screening for Critical Heart Defects Saves Lives

Patrice Wendling

December 07, 2017

WAYNE, NJ — The need to mandate critical congenital heart disease (CCHD) screening in US newborns was initially questioned, but a new study shows that infant CCHD deaths fell by about a third in states that adopted mandatory screening[1].

Further, overall heart-defect deaths declined in these states by a fifth, while neither outcome was significantly reduced with voluntary policies or as-yet implemented mandates.

"This research suggests that every country and every state should have a mandatory screening policy given that the procedure is very affordable and we can expect a substantial impact on infant mortality," principal investigator Dr Rahi Abouk (William Patterson University, Wayne, NJ) said when interviewed.

The study was published in the December 5, 2017 issue of the Journal of the American Medical Association.

About one in every four US babies born with a congenital heart defect has a CCHD, or a heart defect serious enough to require surgery or other procedures in the first year of life, according to the Centers for Disease Control and Prevention (CDC)[2].

CCHD screening, performed with pulse oximetry, was added to the US Recommended Uniform Screening Panel for newborns in 2011, but not without debate over whether a public-health mandate was necessary or whether the test should simply be added to usual newborn care.

"I think there were some people who thought this would be helpful but it would be more of an early detection and early implementation of therapy as opposed to really saving lives," Dr Stephen Daniels (Children's Hospital Colorado, University of Colorado School of Medicine, Aurora), who was not involved with the study, told | Medscape Cardiology.

"What this study shows is that when you don't have screening in place, cases are missed and the outcome can be bad; screening improves this outcome. And I think that is a very important message."

Using the National Center for Health Statistics period-linked birth/infant death data set from 2007 through 2013, the researchers compared early deaths (age 24 hours to <6 months) due to 12 CCHDs or other/unspecified cardiac causes in eight states with mandatory screening, five states with voluntary screening, and nine states with mandatory screening enacted but not implemented by June 1, 2013.

Compared with states without mandatory screening policies, the mean adjusted relative decrease in CCHD deaths with mandatory screening was 33.4%, with an absolute decline of 3.9 deaths per 100,000 births.

For other/unspecified cardiac deaths, the relative decrease was 21.4% and absolute decline 3.5 deaths/100,000.

In the five states that enacted voluntary screening policies, the absolute decrease in CCHD deaths was 0.6/100,000 and 1.0/100,000 for other cardiac deaths.

Notably, the relative reduction in CCHD deaths surpassed 50% for six states implementing mandates from July 1, 2012 to June 1, 2013—a period when it's thought mandated and voluntary screening implementation took off.

In contrast, infant-death rates did not change over the study period in states with no screening policy.

The findings were robust in sensitivity analyses, and falsification studies showed no association of mandatory or voluntary CCHD screening policies with changes in any other type of early infant deaths.

Based on the results, mandatory CCHD screening could save 120 infant lives per year if implemented nationwide, Abouk said.

"Screening newborns for critical congenital heart disease in every state, tribe, and territory will save lives and help babies thrive," CDC director Dr Brenda Fitzgerald said in a statement.

Among US states, only Idaho and Wyoming do not have a mandate for CCHD newborn screening, Dr Alex Kemper (Nationwide Children's Hospital, Columbus, OH) and coauthors write in an accompanying editorial[3].  They also point out the study did not have access to individual CCHD screening results and that variations exist in the algorithms used in state newborn screening programs and in what data must be reported to state health officials.

"Nonetheless, the evidence is now sufficient to declare newborn screening for critical congenital heart disease a successful public-health intervention," they write.

The editorialists call for careful research into the comparative effectiveness of different screening algorithms, how screening should be modified for high-altitude nurseries, and the categorization and management of other cardiac and noncardiac conditions identified by CCHD screening.

Daniels said work by his team suggests that pulse oximetry cut points do not require modification, at least at Denver's altitude, but he agreed that the study "leaves open questions about how best to perform pulse oximetry and the most cost-effective ways to do it."

A prior cost-effectiveness analysis estimated that universal CCHD newborn screening would cost an extra $6.28 per newborn, with an incremental cost-effectiveness ratio of $40,385 per life-year gained based on 20 infant deaths averted each year. The present results, at 120 deaths prevented annually, suggest a lower cost per life-year gained, though a more precise cost-effectiveness analysis will be forthcoming next year, Abouk said.

Abouk reports no relevant conflicts of interest. Disclosures for the coauthors are listed in the paper. Kemper reports serving as chair of the Condition Review Workgroup, which conducts reviews to support the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC); and receiving funding from Masimo Corp for meeting participation. Disclosures for the coauthors are listed in the editorial.

Follow Patrice Wendling on Twitter: @pwendl. For more from | Medscape Cardiology, follow us on Twitter and Facebook.


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