What's New in Newborn Screening?

Bradford L. Therrell; Colleen Buechner; Michele A. Lloyd-Puryear; Peter C. van Dyck; Marie Y. Mann

Pediatr Health. 2008;2(4):411-429.

Future Perspective

Many have speculated in recent years on the future perspectives of NBS.^{[87,88,89,90,91,92,93,94,95]} Not only have these speculations embraced advancing technology and medical treatments, but also the changing perspectives of what constitutes benefit. The risks that might exist as a result of changes in NBS policy are equally important. As the universe of NBS expands from the combined impact of science, technology and policy, it must stay focused on improved health and long-term benefits to newborns and their families, and minimize risk. The relative rarity of most of the conditions identified through NBS will undoubtedly provide new opportunities for research and program improvement. The challenge will be in integrating and maximizing the knowledge and benefits of these studies. Government agencies must coordinate their activities to ensure that this occurs.

Continued advances in electronic data manipulation and communication also provide unique opportunities. Not only will telehealth increase the reach of specialty care so that broader clinical coverage will exist, but electronic health records will begin to provide faster and more comprehensive screening information at the point of patient care. Thus, NBS will become more feasible for conditions that require faster clinical interventions, and geographic areas currently without specialized medical services will have access to increased speciality care. The net result will probably be increased screening capabilities for congenital medical abnormalities that require continued redefinition and redesign of the NBS system to accommodate the expansion. Public health policy makers will continue to be challenged with their role in making NBS widely and equitably available. In addition to expansions and advances in developed NBS programs, developing programs will also increase so that a much larger percentage of the world's newborn population will have NBS access. This will include not only NDBS and NHS, but also other types of NBS.

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Table 1. Conditions Required by US Newborn Screening Programs
Jurisdiction	Births^*	Conditions required in state newborn screening program^‡
		Congenital hypothyroidism	Phenylketonuria	Galactosemia	Sickle cell diseases	Congenital adrenal hyperplasia	Biotinidase deficiency
Alabama	59,300	^§	^§	^§	^§	^§	^§
Alaska	10,365	^§	^§	^§	^§	^§	^§
Arizona	95,687	^§	^§	^§	^§	^§	^§
Arkansas	38,381	^§	^§	^§	^§	^§	^§
California	549,100	^§	^§	^§	^§	^§	^§
Colorado	69,205	^§	^§	^§	^§	^§	^§
Connecticut	42,133	^§	^§	^§	^§	^§	^§
Delaware	12,265	^§	^§	^§	^§	^§	^§
District of Columbia	14,311	^§	^§	^§	^§	^§	^§
Florida	226,415	^§	^§	^§	^§	^§	^§
Georgia	143,476	^§	^§	^§	^§	^§	^§
Hawaii	17,911	^§	^§	^§	^§	^§	^§
Idaho	22,522	^§	^§	^§	^§	^§	^§
Illinois	175,714	^§	^§	^§	^§	^§	^§
Indiana	87,843	^§	^§	^§	^§	^§	^§
Iowa	39,337	^§	^§	^§	^§	^§	^§
Kansas	40,737	^§	^§	^§	^§	^§	^§
Kentucky	54,590	^§	^§	^§	^§	^§	^§
Louisiana	60,461	^§	^§	^§	^§	^§	^§
Maine	13,975	^§	^§	^§	^§	^§	^§
Maryland	71,292	^§	^§	^§	^§	^§	^§
Massachusetts	77,820	^§	^§	^§	^§	^§	^§
Michigan	126,498	^§	^§	^§	^§	^§	^§
Minnesota	70,933	^§	^§	^§	^§	^§	^§
Mississippi	41,175	^§	^§	^§	^§	^§	^§
Missouri	79,523	^§	^§	^§	^§	^§	^§
Montana	11,551	^§	^§	^§	^§	^§	^§
Nebraska	26,350	^§	^§	^§	^§	^§	^§
Nevada	36,950	^§	^§	^§	^§	^§	^§
New Hampshire	13,968	^§	^§	^§	^§	^§	^§
New Jersey	110,800	^§	^§	^§	^§	^§	^§
New Mexico	28,291	^§	^§	^§	^§	^§	^§
New York	247,901	^§	^§	^§	^§	^§	^§
North Carolina	123,943	^§	^§	^§	^§	^§	^§
North Dakota	9621	^§	^§	^§	^§	^§	^§
Ohio	148,876	^§	^§	^§	^§	^§	^§
Oklahoma	50,656	^§	^§	^§	^§	^§	^§
Oregon	46,712	^§	^§	^§	^§	^§	^§
Pennsylvania	144,908	^§	^§	^§	^§	^§	^¶
Rhode Island	13,481	^§	^§	^§	^§	^§	^§
South Carolina	55,321	^§	^§	^§	^§	^§	^§
South Dakota	11,957	^§	^§	^§	^§	^§	^§
Tennessee	87,072	^§	^§	^§	^§	^§	^§
Texas	387,856	^§	^§	^§	^§	^§	^§
Utah	52,555	^§	^§	^§	^§	^§	^§
Vermont	5932	^§	^§	^§	^§	^§	^§
Virginia	102,646	^§	^§	^§	^§	^§	^§
Washington	82,336	^§	^§	^§	^§	^§	^§
West Virginia	21,150	^§	^§	^§	^§	^§	^§
Wisconsin	69,769	^§	^§	^§	^§	^§	^§
Wyoming	6778	^§	^§	^§	^§	^§	^§
Totals	4,138,349	51	51	51	51	51	50

Jurisdiction	Births^*	Conditions required in state newborn screening program^‡
		*Cystic fibrosis*	*G6PD Deficiency*	*MS/MS detectable*			*Toxoplasmosis*	*HIV*	*Other (Krabbe disease)*
				*Other amino acid disorders*	*Fatty acid oxidation disorders*	*Organic acid disorders*
Alabama	59,300	^§		^¶	^¶	^¶
Alaska	10,365	^§		^¶	^¶	^§
Arizona	95,687	^§		^¶	^¶	^¶
Arkansas	38,381	^§		^¶	^¶	^¶
California	549,100	^§		^¶	^¶	^§
Colorado	69,205	^§		^¶	^§	^§
Connecticut	42,133	^¶		^¶	^¶	^¶		^#
Delaware	12,265	^§		^¶	^¶	^¶
District of Columbia	14,311	^§	^§	^¶	^§	^§
Florida	226,415	^§		^¶	^¶	^¶
Georgia	143,476	^§		^¶	^¶	^¶
Hawaii	17,911	^§		^¶	^¶	^§
Idaho	22,522	^§		^¶	^¶	^§
Illinois	175,714	^§		^¶	^¶	^¶		^#
Indiana	87,843			^§	^§	^¶
Iowa	39,337	^§		^§	^¶	^§
Kansas	40,737	^§		^¶	^¶	^¶
Kentucky	54,590	^§		^¶	^¶	^¶
Louisiana	60,461	^§		^¶	^¶	^¶
Maine	13,975			^¶	^¶	^¶
Maryland	71,292	^§		^¶	^¶	^§
Massachusetts	77,820	^¶		^¶	^¶	^¶	^§
Michigan	126,498	^§		^¶	^§	^§
Minnesota	70,933	^§		^§	^§	^§
Mississippi	41,175	^§		^¶	^¶	^¶
Missouri	79,523	^§		^¶	^¶	^¶
Montana	11,551	^§		^¶	^¶	^¶
Nebraska	26,350	^§		^¶	^¶	^¶
Nevada	36,950	^§		^¶	^¶	^§
New Hampshire	13,968	^§		^¶	^¶	^¶	^§
New Jersey	110,800	^§		^¶	^¶	^¶
New Mexico	28,291	^§		^¶	^¶	^¶
New York	247,901	^§		^¶	^§	^§		^§	^§
North Carolina	123,943			^¶	^¶	^¶
North Dakota	9621	^§		^§	^¶	^§
Ohio	148,876	^§		^¶	^¶	^¶
Oklahoma	50,656	^§		^§	^§	^§
Oregon	46,712	^§		^¶	^¶	^¶
Pennsylvania	144,908	^¶	^¶	^¶	^¶	^¶
Rhode Island	13,481	^§		^¶	^¶	^¶
South Carolina	55,321	^§		^¶	^§	^§
South Dakota	11,957	^§		^¶	^¶	^¶
Tennessee	87,072	^§		^¶	^¶	^§
Texas	387,856	^§		^¶	^¶	^¶
Utah	52,555			^§	^¶	^¶
Vermont	5932	^§		^¶	^¶	^¶
Virginia	102,646	^§		^¶	^¶	^¶
Washington	82,336	^§		^¶	^¶
West Virginia	21,150	^§		^¶	^¶	^¶
Wisconsin	69,769	^§		^¶	^¶	^§
Wyoming	6778	^§		^¶	^¶	^¶
Totals	4,138,349	44	1	6	8	17	2	1	1

Table 2. Core Conditions and Secondary Targets Included in the American College of Medical Genetics Report
29 core conditions	25 secondary targets
MS/MS-detectable organic acid disorders
Isovaleric acidemia	Methylmalonic acidemia (Cbl C, D)
Glutaric acidemia type I	Malonic acidemia
3-hydroxy 3-methyl glutaric aciduria	Isobutyryl-CoA dehydrogenase deficiency
Methylmalonic acidemia (mutase deficiency)	2-methyl 3-hydroxy butyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency	2-methylbutyryl-CoA dehydrogenase deficiency
Methylmalonic acidemia (Cbl A, B)	3-methylglutaconic aciduria
Multiple carboxylase deficiency (holocarboxylase synthetase deficiency)
Propionic acidemia
β-ketothiolase deficiency
MS/MS-detectable fatty acid oxidation disorders
Medium-chain acyl-CoA dehydrogenase deficiency	Short-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency	Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency	Medium-chain ketoacyl-CoA thiolase deficiency
Trifunctional protein deficiency	Carnitine palmitoyltransferase II deficiency
Carnitine uptake defect	Carnitine acylcarnitine translocase deficiency
	Carnitine palmitoyltranferase I deficiency (liver)
	Glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiency)
	2, 4-dienoyl-CoA reductase deficiency
MS/MS-detectable amino acid disorders
Phenylketonuria	Benign hyperphenylalaninemia
Maple syrup urine disease	Tyrosinemia type II
Homocystinuria	Tyrosinemia type III
Citrullinemia type I	Defects of biopterin cofactor biosynthesis
Argininosuccinic aciduria	Defects of biopterin cofactor regeneration
Tyrosinemia type I	Argininemia
	Hypermethioninemia
	Citrullinemia type II
Hemoglobinopathies
Sickle cell anemia (SS-disease)	Variant hemoglobinopathies
Sickle-C disease
S-β thalassemia
Other
Transferase-deficient galactosemia (classical)	Galactokinase deficiency
Primary congenital hypothyroidism	Galactoepimerase deficiency
21-hydroxylase-deficient congenital adrenal hyperplasia
Biotinidase deficiency
Hearing screening
Cystic fibrosis

MS/MS: Tandem mass spectrometry.
Data taken from ^[35,36].

Table 1. Conditions Required by US Newborn Screening Programs
Jurisdiction	Births^*	Conditions required in state newborn screening program^‡
		Congenital hypothyroidism	Phenylketonuria	Galactosemia	Sickle cell diseases	Congenital adrenal hyperplasia	Biotinidase deficiency
Alabama	59,300	^§	^§	^§	^§	^§	^§
Alaska	10,365	^§	^§	^§	^§	^§	^§
Arizona	95,687	^§	^§	^§	^§	^§	^§
Arkansas	38,381	^§	^§	^§	^§	^§	^§
California	549,100	^§	^§	^§	^§	^§	^§
Colorado	69,205	^§	^§	^§	^§	^§	^§
Connecticut	42,133	^§	^§	^§	^§	^§	^§
Delaware	12,265	^§	^§	^§	^§	^§	^§
District of Columbia	14,311	^§	^§	^§	^§	^§	^§
Florida	226,415	^§	^§	^§	^§	^§	^§
Georgia	143,476	^§	^§	^§	^§	^§	^§
Hawaii	17,911	^§	^§	^§	^§	^§	^§
Idaho	22,522	^§	^§	^§	^§	^§	^§
Illinois	175,714	^§	^§	^§	^§	^§	^§
Indiana	87,843	^§	^§	^§	^§	^§	^§
Iowa	39,337	^§	^§	^§	^§	^§	^§
Kansas	40,737	^§	^§	^§	^§	^§	^§
Kentucky	54,590	^§	^§	^§	^§	^§	^§
Louisiana	60,461	^§	^§	^§	^§	^§	^§
Maine	13,975	^§	^§	^§	^§	^§	^§
Maryland	71,292	^§	^§	^§	^§	^§	^§
Massachusetts	77,820	^§	^§	^§	^§	^§	^§
Michigan	126,498	^§	^§	^§	^§	^§	^§
Minnesota	70,933	^§	^§	^§	^§	^§	^§
Mississippi	41,175	^§	^§	^§	^§	^§	^§
Missouri	79,523	^§	^§	^§	^§	^§	^§
Montana	11,551	^§	^§	^§	^§	^§	^§
Nebraska	26,350	^§	^§	^§	^§	^§	^§
Nevada	36,950	^§	^§	^§	^§	^§	^§
New Hampshire	13,968	^§	^§	^§	^§	^§	^§
New Jersey	110,800	^§	^§	^§	^§	^§	^§
New Mexico	28,291	^§	^§	^§	^§	^§	^§
New York	247,901	^§	^§	^§	^§	^§	^§
North Carolina	123,943	^§	^§	^§	^§	^§	^§
North Dakota	9621	^§	^§	^§	^§	^§	^§
Ohio	148,876	^§	^§	^§	^§	^§	^§
Oklahoma	50,656	^§	^§	^§	^§	^§	^§
Oregon	46,712	^§	^§	^§	^§	^§	^§
Pennsylvania	144,908	^§	^§	^§	^§	^§	^¶
Rhode Island	13,481	^§	^§	^§	^§	^§	^§
South Carolina	55,321	^§	^§	^§	^§	^§	^§
South Dakota	11,957	^§	^§	^§	^§	^§	^§
Tennessee	87,072	^§	^§	^§	^§	^§	^§
Texas	387,856	^§	^§	^§	^§	^§	^§
Utah	52,555	^§	^§	^§	^§	^§	^§
Vermont	5932	^§	^§	^§	^§	^§	^§
Virginia	102,646	^§	^§	^§	^§	^§	^§
Washington	82,336	^§	^§	^§	^§	^§	^§
West Virginia	21,150	^§	^§	^§	^§	^§	^§
Wisconsin	69,769	^§	^§	^§	^§	^§	^§
Wyoming	6778	^§	^§	^§	^§	^§	^§
Totals	4,138,349	51	51	51	51	51	50

Jurisdiction	Births^*	Conditions required in state newborn screening program^‡
		*Cystic fibrosis*	*G6PD Deficiency*	*MS/MS detectable*			*Toxoplasmosis*	*HIV*	*Other (Krabbe disease)*
				*Other amino acid disorders*	*Fatty acid oxidation disorders*	*Organic acid disorders*
Alabama	59,300	^§		^¶	^¶	^¶
Alaska	10,365	^§		^¶	^¶	^§
Arizona	95,687	^§		^¶	^¶	^¶
Arkansas	38,381	^§		^¶	^¶	^¶
California	549,100	^§		^¶	^¶	^§
Colorado	69,205	^§		^¶	^§	^§
Connecticut	42,133	^¶		^¶	^¶	^¶		^#
Delaware	12,265	^§		^¶	^¶	^¶
District of Columbia	14,311	^§	^§	^¶	^§	^§
Florida	226,415	^§		^¶	^¶	^¶
Georgia	143,476	^§		^¶	^¶	^¶
Hawaii	17,911	^§		^¶	^¶	^§
Idaho	22,522	^§		^¶	^¶	^§
Illinois	175,714	^§		^¶	^¶	^¶		^#
Indiana	87,843			^§	^§	^¶
Iowa	39,337	^§		^§	^¶	^§
Kansas	40,737	^§		^¶	^¶	^¶
Kentucky	54,590	^§		^¶	^¶	^¶
Louisiana	60,461	^§		^¶	^¶	^¶
Maine	13,975			^¶	^¶	^¶
Maryland	71,292	^§		^¶	^¶	^§
Massachusetts	77,820	^¶		^¶	^¶	^¶	^§
Michigan	126,498	^§		^¶	^§	^§
Minnesota	70,933	^§		^§	^§	^§
Mississippi	41,175	^§		^¶	^¶	^¶
Missouri	79,523	^§		^¶	^¶	^¶
Montana	11,551	^§		^¶	^¶	^¶
Nebraska	26,350	^§		^¶	^¶	^¶
Nevada	36,950	^§		^¶	^¶	^§
New Hampshire	13,968	^§		^¶	^¶	^¶	^§
New Jersey	110,800	^§		^¶	^¶	^¶
New Mexico	28,291	^§		^¶	^¶	^¶
New York	247,901	^§		^¶	^§	^§		^§	^§
North Carolina	123,943			^¶	^¶	^¶
North Dakota	9621	^§		^§	^¶	^§
Ohio	148,876	^§		^¶	^¶	^¶
Oklahoma	50,656	^§		^§	^§	^§
Oregon	46,712	^§		^¶	^¶	^¶
Pennsylvania	144,908	^¶	^¶	^¶	^¶	^¶
Rhode Island	13,481	^§		^¶	^¶	^¶
South Carolina	55,321	^§		^¶	^§	^§
South Dakota	11,957	^§		^¶	^¶	^¶
Tennessee	87,072	^§		^¶	^¶	^§
Texas	387,856	^§		^¶	^¶	^¶
Utah	52,555			^§	^¶	^¶
Vermont	5932	^§		^¶	^¶	^¶
Virginia	102,646	^§		^¶	^¶	^¶
Washington	82,336	^§		^¶	^¶
West Virginia	21,150	^§		^¶	^¶	^¶
Wisconsin	69,769	^§		^¶	^¶	^§
Wyoming	6778	^§		^¶	^¶	^¶
Totals	4,138,349	44	1	6	8	17	2	1	1

Sidebar: Executive Summary

Introduction

The way in which newborn screening (NBS) is implemented and the numbers of conditions included vary throughout the world.
The basic responsibilities of clinicians in NBS do not vary, and include the early and accurate diagnosis and clinical management of NBS.

General considerations in US newborn screening systems

A national policy defining NBS does not currently exist and the state public health authority has (at a minimum) oversight responsibilities for NBS activities.
There are national laboratory certification requirements and national standards and guidelines that influence how screening activities occur.
Multidisciplinary advisory committees provide community input to most NBS programs.
Newborn dried blood-spot screening (NDBS) and newborn hearing screening (NHS) may exist separately or may be combined within the public health system.

Screening policies & screened conditions

Professional organizations, such as the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG), and government agencies, such as the Health Resources and Services Administration (HRSA), US CDC and NIH, are providing leadership to encourage NBS harmonization and equal accessibility to related services across the country.
NBS follow-up, both short- and long-term, is a shared responsibility among the NBS program, parents and appropriate healthcare professionals aimed at improved health outcomes.
Recent technology advances have led to screening for over 50 conditions in some NDBS programs.
Research activities to expand and improve NDBS programs are ongoing, particularly with respect to second-tier tests and tests for severe combined immune deficiency, lysosomal storage diseases, Duchenne muscular dystrophy, fragile X syndrome, Type 1 diabetes and others.

Current state screening procedures

All states have statutory requirements that allow for or require NDBS, and most have requirements for NHS.
A fee for screening exists in most states, but the fee amounts vary; inability to pay does not preclude obtaining NBS.
Only three states require consent for the specified screening panel and some states (covering ~24% of all births nationally) require a second screen, usually at 1-2 weeks of age.
A national project is underway to evaluate the results of requiring a second screen and other national projects are under consideration by the Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children (ACHDGDNC).
Adoption of electronic health records is progressing nationally and standardized processes for including NBS results are under development.

Newborn screening education

Increased complexities in diagnosing conditions in expanded NBS panels have accentuated the need for additional education for pediatric health professionals.
Model educational materials for states to use in educating parents and professionals have been developed with federal funding assistance.
Professional organizations have providedaction/information sheets (ACMG), NBS fact sheets (AAP) and policies to aid clinicians in better understanding the rare conditions being identified and their immediate and extended role in NBS disease diagnosis and clinical management.

Newborn screening system evaluation

NDBS laboratories can avail themselves of external proficiency testing and quality assurance materials from the US CDC.
Overall NBS system components are governed by best practices, and a comprehensive self-evaluation tool, the Performance Evaluation and Assessment Scheme, has been developed as a guide to indicators of quality.

Conclusion

NDBS programs should not be referred to as 'phenylketonuria screening' since screening is much more comprehensive and concerted efforts are needed to eliminate use of this nickname.
An NBS knowledge gap exists in the clinical community and clinicians must work to increase their NBS knowledge.
Clinicians should become involved in the policy decisions affecting NBS.
NBS will continue to expand along with electronic influences that can affect patient care - record keeping and telehealth.

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