Current status of newborn screening worldwide: 2015

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Abstract

Newborn screening describes various tests that can occur during the first few hours or days of a newborn’s life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.

Introduction

The general term “newborn screening” is used to describe various tests that can occur during the first few hours or days of a newborn’s life and which, when properly timed and performed, have the potential for preventing severe health problems, including death. Newborn screening has evolved from a relatively simple blood or urine screening test, originally used for detecting a single congenital condition, to a more comprehensive and complex screening system that can detect over 50 different conditions.1 While typically using blood taken from a heelstick, more recent newborn screening expansion has included bedside testing to detect conditions such as hearing loss and cardiac disease. The latter 2 conditions are now included in the U.S. federally recommended uniform screening panel (RUSP)2 and are included in some programs in other parts of the world. This report focuses on newborn bloodspot screening (NBS) commonly used to identify inborn errors of metabolism or other inherited disorders and updates screening reports that were published in 2007, outlining NBS activities in various parts of the world.3, 4, 5, 6, 7, 8, 9 More detailed information on hearing screening can be found in an earlier issue of this Journal,10 and information on CCHD can be found elsewhere in the current issue.11

NBS typically uses blood taken from a heelstick, absorbed onto special collection paper (similar consistency to filter paper), and transported to a special screening laboratory.12 While hospital laboratories may be qualified to perform NBS testing in some settings, the screening laboratory is usually a specialized laboratory because of the micro-techniques used, the cost savings from centralizing the laboratory services, and improvements in quality realized when testing large quantities of specimens for relatively rare conditions. In the U.S., it is most often a special public health laboratory. In some settings, it may be part of a larger clinical genetics laboratory, and in others, particularly in developing countries, it may be in a research setting.

In order to assess NBS activities globally, we have divided the world into 5 regions: North America, Europe, Asia Pacific, Middle East and North Africa (MENA), and Latin America. Obviously missing is Sub-Saharan Africa for which little information is currently available, and limited congenital hypothyroidism (CH) and sickle cell NBS activities are ongoing.13, 14, 15 A review of the literature and personal contacts working in Africa revealed documentation of various beginning newborn screening activities in Ghana,16, 17 Nigeria,18 Tanzania,19 Angola,20 Ethiopia,21 Democratic Republic of Congo,22 and South Africa.23, 24 For the remainder of the world, we have drawn on our extensive NBS experience and contacts with NBS program managers within our respective regions to solicit recent updates in order to comprehensively describe ongoing regional NBS activities.

Section snippets

North America

For purposes of this report, North America is comprised of the 51 U.S. programs (50 states and the District of Columbia) and 15 Canadian programs (10 provinces and 3 territories with 1 territory, Nunavut, divided into 3 regions). Because of similar language and culture, Mexico, while a part of North America, is included in the discussion of Latin American programs. Although screening exists in some U.S. territories, little effort has been made to collect systematic data on these programs, and

Europe

Europe is considered to consist of 48 jurisdictions situated east of the Atlantic, north of or in the Mediterranean Sea and west of the Ural Mountains, but including the whole of Russia. The total population in 2012 was over 833 million with annual births of more than 9.5 million (Table 3). As in many parts of the world, NBS in Europe began in the mid-1960s, developing from West to East, with the latest program being initiated in Bosnia–Herzegovina in 2000.69 Four of the 48 jurisdictions are so

Middle East and North Africa

The MENA region consists of 21 countries with a population of about 440 million with 11 million annual births. There is significant diversity between countries in population size, per capita income, health systems, insurance coverage, and newborn screening implementation.96 Because there are high rates of consanguinity and first cousin marriages, genetic disorders are relatively common. In the past decade, a reducing (improving) infant mortality rate (IMR) has led to growing recognition of the

Latin America

Latin America consists of 20 countries as noted in our 2007 report.7 The combined population is now approximately 600 million, with annual births of 11 million. As with other regions, there is diversity of geography, demographics, ethnicity, economies, and social and health systems, including newborn screening. Language is perhaps the most important shared characteristics since all countries except Brazil and Haiti, are Spanish speaking. Recent NBS changes in Latin America are reviewed in this

Asia Pacific

The Asia Pacific region extends from New Zealand on the south to Mongolia on the north, and reaches to Pakistan in the east (see map in 2007 report).6 Of the 138 million babies born in the world, almost half (67 million) are born in the Asia Pacific region. Countries in the region vary widely in size, economic development, and geography. There are many different languages, cultural sensitivities, and religions, each creating its own challenges in implementing NBS. In some areas, the number of

Summary comments

While CH remains the most significant condition included in NBS programs worldwide due to its relatively high incidence (particularly in iodine deficient areas), readily available low-cost treatment and successful treatment results, screening for various other conditions is also of high importance. Each condition included in NBS must be carefully evaluated on the basis of medical and scientific evidence surrounding the natural history of the condition and the local ability to decrease morbidity

Acknowledgments

The authors gratefully acknowledge the cooperation of colleagues in each region in providing information about their screening activities. Many who contributed have not been acknowledged through documented personal communications, but their responsiveness to our requests will not go unnoticed.

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    All authors have seen and approved the submission of the manuscript and are willing to take responsibility for the entire manuscript. B.L.T. developed the manuscript and assimilated data from the U.S. with input from C.D.P. (Asia Pacific), G.L. (Europe), I.K. and A.S. (Middle East North Africa), G.J.B. (Latin America), and J.A. (Canada). All authors assert no conflict of interest.

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