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Produced and published by:

The National Newborn Screening and Genetics

Resource Center

1912 W. Anderson Lane

Suite 210

Austin, TX 78757

512-454-6419

The information contained in the National Newborn Screening

10-Year Incidence Report is not copyrighted. Readers are free

to duplicate and use all or part of the information contained in

the publication. In accordance with accepted publishing

standards, the National Newborn Screening and Genetics

Resource Center (NNSGRC) requests acknowledgements, in

print, of any information reproduced in another publication.

Incidence has been calculated using data provided by the state

newborn screening programs and birth data provided by the

National Center for Health Statistics. Caution is advised in

interpreting these data since unpublished caveats may

accompany some of the program data. Every attempt has been

made to indicate instances where such caveats may exist.

Acknowledgments

The editors would like to thank the State Newborn Screening

Coordinators and Laboratory Directors for their assistance in

responding to the requests for data. The Association of Public

Health Laboratories serves as a co-sponsor of this data

collection effort.

2

Table of Contents

Overview………………………………………………………………………………………………………… 3

Newborn screening……………………………………………………………………………………………….…………. 3

NNSGRC……………………………………………………………………………………………………………………. 4

National Newborn Screening Data Report…………………………………………………………………………………... 4

10-Year Incidence Data by Disorder…………………………………………………………………………... 7

Biotinidase Deficiency………………………………………………………………………………………….……………. 8

Table 1. Biotinidase Cases and Apparent Incidence by State…………………….…………………..……………… 8

Figure 1. Apparent Incidence: Biotinidase, 1991-2000……………………………………………………….……… 9

Congenital Hypothyroidism……………………………………………………………………………………...…………... 10

Table 2. Congenital Hypothyroidism Cases and Apparent Incidence by State………………………………….…… 10

Figure 2. Apparent Incidence: Congenital Hypothyroidism, 1991-2000…………………………………………...… 11

Congenital Adrenal Hyperplasia……………………………………………………………………………………………... 12

Table 3. Congenital Adrenal Hyperplasia Cases and Apparent Incidence by State………………………………….. 12

Figure 3. Apparent Incidence: Congenital Adrenal Hyperplasia, 1991-2000……………………………………….... 13

Galactosemia - Classical Transferase Deficiency From (GALT)………………………………………………………….… 14

Table 4. Galactosemia Cases and Apparent Incidence by State…………………………………………………….... 14

Figure 4. Apparent Incidence: Galactosemia, 1992-2000…………………………………………………………….. 15

Phenylketonuria (PKU)………………………………………………………………………………………………………. 16

Table 5. Phenylketonuria Cases and Apparent Incidence by State………………………………………………...… 16

Figure 5. Apparent Incidence: Phenylketonuria, 1991-2000……………………………………………………….… 17

Maple Syrup Urine Disease………………………………………………………………………………………………..… 18

Table 6. Maple Syrup Urine Disease Cases and Apparent Incidence by State…………………………………….... 18

Figure 6. Apparent Incidence: Maple Syrup Urine Disease, 1991-2000……………………………………………... 19

3

Table of Contents

Sickle Cell Diseases (SCD) – Including S,S-Disease, S,C-Disease and S-β-Thalassemia………………………………………….. 20

Table 7. Sickle Cell Diseases Cases and Apparent Incidence by State…………………………………………….... 20

Figure 7. Apparent Incidence: Sickle Cell Diseases, 1991-2000……………………………………………………... 21

Sickle Trait………………………………………………………………………………………………………………….... 22

Table 8. Sickle Trait Cases and Apparent Incidence by State……………………………………………………….. 22

Figure 8. Apparent Incidence: Sickle Trait, 1991-2000…………………………………………………………….… 23

Cystic Fibrosis……………………………………………………………………………………………………………….. 24

Table 9. Cystic Fibrosis Cases and Apparent Incidence by State………………………………………………….... 24

Figure 9. Apparent Incidence, Cystic Fibrosis, 1991-2000………………………………………………………….... 25

Congenital Toxoplasmosis………………………………………………………………………………………………….... 24

Table 10. Congenital Toxoplasmosis Cases and Apparent Incidence by State………………………………………. 24

Figure 10. Apparent Incidence, Congenital Toxoplasmosis, 1991-2000…..…………………………………………. 25

4

Overview

NEWBORN SCREENING

Introduction

Newborn screening is recognized internationally as an

essential, preventive public health program for early

identification of heritable disorders in newborns that can

adversely affect their long term health. Early detection,

diagnosis, and treatment of these disorders can lead to

significant reductions of death, disease, and associated

disabilities.

History

Newborn screening programs in the US began with the work of

Dr. Robert Guthrie, who in the 1960s developed a screening

test for phenylketonuria. Dr. Guthrie also introduced a system

for collection and transport of blood samples on filter paper,

which provided the impetus for cost effective, population based

newborn screening.

The Maternal and Child Health Bureau (MCHB) of the Health

Resources and Services Administration (HRSA), U.S.

Department of Health and Human Services (HHS), has been

involved in the evolution of newborn screening from the

beginning, and it now funds many different activities dedicated

to strengthening and expanding newborn screening

programs. The National Newborn Screening and Genetics

Resource Center is a cooperative agreement funded by MCHB.

Likewise, the National Coordinating Center (NCC) for the

Regional Genetics and Newborn Screening Collaborative

Centers (RCs) are funding initiatives of MCHB/HRSA. The

latter strive to enhance the follow-up services necessary in

newborn screening through regional networking and

collaboration.

Current Status and Scope

States routinely test blood spots collected from newborns for

over 50 metabolic, genetic, and infectious diseases. It is no

longer appropriate to refer to this as the ‘PKU’ screening

program. since many more disorders are screened and such a

misstatement can lead to improper diagnosis and treatment.

State public health departments have oversight responsibility

for newborn screening programs including rapid and

continuing follow-up to ensure that the infants identified

through newborn screening receive early diagnosis and

treatment and ongoing management. Proper education of

professionals, parents, and policy makers is also a program

management responsibility along with ensuring that counseling

and other ancillary services are available and accessed.

The panel of disorders screened varies from program to

program, and decisions for adding or deleting tests involve

many complex social, ethical, and political issues. Usually,

newborn population screening disorders are tied to issues such

as disorder prevalence, detectability, treatment availability,

outcome, and overall cost effectiveness.

In 2006, the American College of Medical Genetics (ACMG)

published its recommendations for a uniform national

screening panel and the Secretary of HHS’s Advisory

Committee on Heritable Disorders in Newborns and Children

(ACHDNC) concurred. A core panel of 29 conditions

(including hearing screening) was recommended for inclusion

in all program mandates. An additional 25 secondary targets

(conditions identified in the differential diagnosis of the core

29) were also recommended for consideration for inclusion.

Most programs have included the core conditions and many

5

have included all or most of the 25 secondary targets in their

program requirements. Modification of the core panel is an

ongoing process with additional disorders likely to be added as

the scientific evidence mounts. A formal approval process for

this eventuality has been developed and is being utilized by the

ACHDNC.

The role and scope of newborn screening is expanding. While

traditional newborn screening was only concerned with a few

inborn errors that led to mental retardation, programs now

include disorders that can cause premature death, infectious

diseases, hearing disorders, and even heart problems.

Future Challenges

In the last decade, many technological changes occurred that

have the potential for improving the sensitivity, specificity and

scope of newborn screening services. DNA research and the

human genome project contributed new knowledge that aided

in bringing molecular testing to newborn screening. Not only

can DNA be used for second tier confirmation of some

newborn screening conditions, but chip technology may allow

its use in the future as a routine primary screen. Detection of

later onset conditions is now possible, raising new issues about

which conditions to include in newborn screening. The storage,

access, and use of the residual blood spot material remaining

after screening are also major issues that may impact the

research potential of newborn screening programs.

NNSGRC

The National Newborn Screening and Genetics Resource

Center (NNSGRC) is a cooperative agreement between the

Maternal and Child Health Bureau (MCHB), Genetic Services

Branch and the University of Texas Health Science Center at

San Antonio (UTHSCSA), Department of Pediatrics. The

project is funded by the Health Resources and Services

Administration (HRSA). The mission of the NNSGRC is to: 1)

provide a forum for interaction between consumers, health care

professionals, researchers, organizations, and policy makers in

refining and developing public health newborn screening and

genetics programs; and 2) serve as a national resource center

for information and education in the areas of newborn

screening and genetics.

The NNSGRC was established on the principle that accurate

genetic information and competent genetic services should be

provided to all individuals in a culturally competent,

community based, family focused, information oriented, non-

directive, and confidential manner. To this end, states have a

critical role to play in ensuring nondiscriminatory effective

genetic service and information delivery.

The NNSGRC serves as a focal point for national newborn

screening and genetics activities and provides related resources

to benefit health professionals, the public community,

consumers, and government officials. It also serves to assist

states in refining their newborn screening activities through

technical assistance reviews and to enhance their capacity to

incorporate new developments in genetics, health promotion,

and disease prevention into the public health system. In

addition to annual national information reports and online data

outlining state and territorial newborn screening activities, the

NNSGRC coordinates and facilitates national discussions of

pertinent topics in the areas of newborn screening and genetics

and assists in developing and implementing related

demonstration projects of national interest.

The NNSGRC is a component of the Genetics Division of the

Department of Pediatrics, UTHSCSA, and is located in Austin,

Texas.

6

National Newborn Screening Data

Report

In order to facilitate and enhance newborn screening

data collection efforts, the Council of Regional Networks for

Genetic Services (CORN) began collecting national newborn

screening data and prepared annual National Newborn

Screening Reports in 1988. These data and their maintenance

responsibility were transitioned to the NNSGRC in 1999. In

2001, the NNSGRC developed an online database, the National

Newborn Screening Information System (NNSIS), which

allows for real time data entry by state programs. Some

elements of these data can be viewed by the general public.

Annual National Newborn Screening Reports were

designed to respond to the needs of federal, state, and local

health agencies for pertinent data. Since 2001, the data found

in these reports have been available online through the

NNSGRC website. The data entered into the NNSIS system

since 2001 are available for program self-evaluation of the

scope and effectiveness of their existing screening program and

to assist in identifying unmet needs. Comparisons of data can

readily be made over time and across programs so that

programs can monitor both their internal and comparative

efficiency and effectiveness.

The NNSGRC currently prepares annual reports reviewing and

summarizing current program activity across the nation. This

report is a 10-year review based on data reported previously to

both CORN and the NNSGRC. These data were submitted to

the programs to validate prior to their use here. All programs

returned validated data. For simplicity, we have reported only

the apparent incidences of each screened disorder per 1000

births using the validate data. Accompanying graphs have been

provided with programs divided by regions. The seven regions

are those defined by HRSA as part of their effort to improve

screening capabilities by encouraging regional cooperation and

resource utilization. There has been no attempt to formally

analyze the current data, although the Centers for Disease

Control and others are working on various analyses.

Interpretive comments have been included to help explain

some of the limitations of the compiled information. Although

attempts have been made to make this report as reliable as

possible, its accuracy is dependent upon data provided by the

individual programs.

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10 - Year Incidence Data by Disorder

The following tables and graphs were prepared by extracting the cases reported for each disorder from voluntary annual data

submissions from the various state newborn screening programs. Births were those reported to have occurred within the state

jurisdiction as reported to and published by the U.S. National Center for Health Statistics. When screening began at a time other than

the first of a year, the births screened for that year have been estimated by assuming 1/12 of the annual births for each month.

Extracted case data were placed into tables and returned to the state programs for validation and correction, where appropriate. All of

the data reported here were validated by the program manager for the appropriate state program at the end of 2003. The data are

displayed in regional format using the regional collaboratives currently defined by the Health Resources and Services Administration.

8

Biotinidase Deficiency

Biotinidase deficiency is caused by the lack of the

enzyme biotinidase, which results in an inability to liberate

biotin from its bound form so that it can be used by the body.

Biotinidase deficiency can lead to seizures, developmental

delay, eczema, and hearing loss. Metabolic acidosis can result

in coma and death. Biotinidase deficiency is treated with daily

biotin supplement, and with early diagnosis and treatment, all

symptoms can be prevented.

Table 1. Biotinidase cases and apparent incidence by state

Region States Cases Births Incidence

Region 1 Connecticut 1

5 331,638 0.015 Maine

2 1 17,730 0.056

Massachusetts3 23 735,807 0.031

New Hampshire Not Required Rhode Island

4 2 94,939 0.021

Vermont5 4 55,678 0.072

Region 2 Delaware6 Not Required

Dist. of Columbia Not Required Maryland 14 689,636 0.020 New Jersey Not Required New York 30 2,717,145 0.011 Pennsylvania

7 Not Required

Virginia 13 927,058 0.014 West Virginia Not Required

Region 3 Alabama Not Required Florida Not Required Georgia Not Required Louisiana

8 2 240,321 0.008

Mississippi Not Required N. Carolina Not Required S. Carolina Not Required Tennessee Not Required

Region 4 Illinois 15 1,833,397 0.008 Indiana

9 0 37,450 0.000

Kentucky Not Required Michigan 44 1,363,489 0.032 Minnesota Not Required Ohio Not Required Wisconsin 7 677,543 0.010

Region 5 Arkansas Not Required Iowa Not Required Kansas Not Required Missouri Not Required Nebraska 8 238,211 0.034 North Dakota Not Required Oklahoma Not Required South Dakota Not Required

Region 6 Arizona 5 744,355 0.007 Colorado 10 572,543 0.017 Montana Not Required Nevada 1 252,212 0.004 New Mexico

10 1 150,574 0.007

Texas Not Required Utah Not Required Wyoming 2 60,127 0.033

Region 7 Alaska 1 104,123 0.010 California Not Required Hawaii

11 2 61,109 0.033

Idaho 4 181,002 0.022 Oregon 8 449,080 0.018 Washington Not Required

Totals 202 12,535,167 0.016 1Began testing 7/1993

2Began testing 9/1999




6Testing discontinued 7/1999

7Screening for select population only





9

Figure 1. Apparent Incidence: Biotinidase, 1991-2000

Apparent National Incidence: 0.016

10

Congenital Hypothyroidism

CH is the result of an inability to produce adequate

amounts of thyroid hormone. Left untreated, this congenital

deficiency of thyroid hormone can result in mental retardation

and stunted growth. Newborns may appear normal up to three

months of age. If detected early (before three weeks) and

maintained on appropriate levels of thyroid hormone

medication, infants diagnosed with CH should have normal

growth and development.

Table 2. Congenital Hypothyroidism cases and apparent incidence by state


Region 1 Connecticut 107 450,760 0.237 Maine 39 142,013 0.275 Massachusetts 350 840,895 0.416 New Hampshire 59 144,239 0.409 Rhode Island 42 140,744 0.298 Vermont 16 67,164 0.238

Region 2 Delaware 26 111,542 0.233 District of Columbia 37 169,169 0.219 Maryland 167 689,363 0.242 New Jersey 448 1,132,035 0.396 New York 1448 2,717,145 0.533 Pennsylvania 462 1,540,411 0.300 Virginia 242 927,058 0.261 West Virginia 82 222,847 0.368

Region 3 Alabama 129 608,658 0.212 Florida 461 1,938,549 0.238 Georgia 342 1,178,731 0.290 Louisiana 105 681,043 0.154 Mississippi 70 416,095 0.168 North Carolina 286 1,075,129 0.266 South Carolina 108 518,370 0.208 Tennessee * 261 798,534 0.327

Region 4 Illinois 584 1,833,397 0.319 Indiana 276 843,890 0.327 Kentucky 153 523,047 0.293 Michigan 388 1,363,489 0.285 Minnesota 223 650,602 0.343 Ohio 451 1,573,024 0.287 Wisconsin 247 677,543 0.365

Region 5 Arkansas 103 347,456 0.296 Iowa 174 378,283 0.460 Kansas 134 366,466 0.366 Missouri

1 207 776,669 0.267

Nebraska 94 238,211 0.395 North Dakota 30 95,852 0.313 Oklahoma 163 465,697 0.350 South Dakota 78 106,944 0.729

Region 6 Arizona 275 744,355 0.369 Colorado 170 572,543 0.297 Montana 25 109,655 0.228 Nevada 69 252,212 0.274 New Mexico 149 269,995 0.552 Texas 1400 3,366,219 0.416 Utah 141 421,472 0.335 Wyoming 21 60,127 0.349

Region 7 Alaska 40 104,123 0.384 California 2098 5,556,877 0.378 Hawaii 57 185,910 0.307 Idaho 45 181,002 0.249 Oregon 157 449,080 0.350 Washington 274 777,024 0.353

* Totals 13513 39,801,658 0.340

* Includes all cases reported by the program. Some cases of transient hypothyroidism may be included if program did not update records over time.

1 1991 data unavailable.

11

Figure 2. Apparent Incidence: Congenital Hypothyroidism, 1991-2000

12

Congenital Adrenal Hyperplasia (CAH) –

Classical Forms (Salt Wasting and Simple

Virilizing)

CAH is a group of disorders caused by the deficiency

of an adrenal enzyme that results in decreased cortisol (and

sometimes aldosterone) production. Without sufficient

cortical and aldosterone, the affected newborn may appear

normal but can quickly develop symptoms including

lethargy, vomiting, muscle weakness, and dehydration. In

severe cases, death may occur within a few weeks if left

untreated. Infants with milder forms of the disorder are at

risk for reproductive and growth difficulties. If detected

early and maintained on appropriate doses of medication,

infants diagnosed with CAH should have normal growth and

development. Classical CAH is usually divided into salt

wasting (SW) and simple virilizing (SV) forms. For the 10-

year period, most programs were just beginning and were not

necessarily differentiating the sub types of classical CAH.

Some, particularly programs with a routine 2nd

specimen,

were detecting cases of the late onset or nonclassical CAH.

For the purposes of this report, only the classical cases have

been tabulated.

Table 3. Classical cases of Congenital Adrenal Hyperplasia and incidence by state

Region States

Cases (Classical CAH) Total Classical

Cases Births

Incidence (Classical

CAH) Salt

Wasting Simple

Virilizing Not

Classified

Region 1 Connecticut1 3 0 0 3 379,488 0.008

Maine2 0 0 0 0 30,237 0.000

Massachusetts 8 5 40 53 840,895 0.063 New Hampshire Not Required Rhode Island

3 2 0 0 2 94,939 0.021

Vermont Not Required

Region 2 Delaware Not Required Dist. Of Columbia Not Required Maryland Not Required New Jersey Not Required New York Not Required Pennsylvania

4 1 1 0 2 36,715 0.054

Virginia Not Required West Virginia Not required

Region 3 Alabama5 3 0 0 3 379,488 0.008

Florida6 30 5 0 35 1,121,173 0.031

Georgia 41 10 5 56 1,178,731 0.048 Louisiana Not required Mississippi Not required North Carolina 38 0 12 50 1,075,129 0.047 South Carolina

7 15 3 0 18 422,440 0.043

Tennessee8 1 0 0 1 21,215 0.047

Region 4 Illinois 74 15 15 104 1,833,397 0.057 Indiana

8 4 0 0 4 21,647 0.185

Kentucky Not Required Michigan

9 53 8 0 61 1,002,672 0.061

Minnesota10

28 6 0 34 543,209 0.063 Ohio Not required Wisconsin

11 38 4 0 42 526,683 0.080

Region 5 Arkansas Not required Iowa 19 14 3 36 378,283 0.095 Kansas Not required Missouri Not required Nebraska Not required North Dakota

12 7 0 0 7 80,712 0.087

Oklahoma Not required South Dakota Not required

Region 6 Arizona Not required Colorado

13 0 0 0 0 27,365 0.000

Montana Not required Nevada Not required New Mexico

14 1 0 0 1 53,662 0.019

Texas 146 56 0 202 3,366,219 0.060 Utah Not required Wyoming Not required

Region 7 Alaska 8 5 7 20 104,123 0.192 California Not required Hawaii

15 1 0 0 1 61,109 0.016

Idaho Not required Oregon Not required Washington 29 7 3 39 777,024 0.050

Totals 550 139 85 774 14,356,555 0.054 1Testing began 10/1997.

2Testing began 10/1998.


4Testing began 10/2000, Select

population screening done prior to 2000. 5Testing began 10/1994.







12Testing began

7/1992. 13

Testing began 8/2000. 14

Testing began 1/1999 15

Testing began 7/1997.

13

Figure 3. Apparent Incidence: Congenital Adrenal Hyperplasia, 1991-2000


14

Galactosemia – Classical Transferase

Deficient Form (GALT)

Galactosemia results from a deficiency in the enzyme

needed to metabolize galactose in milk sugar. Newborns

typically appear normal, however, within a few days to two

weeks after initiating milk feedings, vomiting, diarrhea,

lethargy, jaundice, and liver damage develops. Untreated, the

disorder may result in developmental retardation,

hepatomegaly, growth failure, cataracts, and in severe cases,

death. With early detection and strict adherence to a galactose-

free diet, infants diagnosed with classical GAL can be expected

to achieve satisfactory general health.

Table 4. Cases of Classical Galactosemia and incidence by state



Region 2 Delaware 3 111,542 0.027 Dist. of Columbia 2 169,169 0.012 Maryland 18 689,363 0.026 New Jersey 22 1,132,035 0.019 New York 43 2,717,145 0.016 Pennsylvania

1 1 36,326 0.028

Virginia 48 927,058 0.052 West Virginia 7 222,847 0.031

Region 3 Alabama2 12 496,293 0.024

Florida 42 1,938,549 0.022 Georgia 33 1,178,731 0.028 Louisiana Not Required Mississippi

3 5 373,338 0.013

North Carolina 14 1,075,129 0.013 South Carolina

4 7 422,440 0.017

Tennessee5 15 719,705 0.021


Region 5 Arkansas6 4 179,053 0.022

Iowa 10 378,283 0.026 Kansas 11 366,466 0.030 Missouri

7 17 695,593 0.024

Nebraska8 2 143,751 0.014

North Dakota9 0 80,712 0.000

Oklahoma 10 465,697 0.021 South Dakota 2 106,944 0.019


Region 7 Alaska 2 104,123 0.019 California 72 5,556,897 0.013 Hawaii

10 0 61,109 0.000


Totals 729 36,025,765 0.020 1Testing began 10/2000, Select population screening done prior to 2000.

2Testing

began 11/1992. 3Testing began 10/1991, 1991 data unavailable.

4Testing began

10/1992. 5Testing began 1/1992.


71991 data unavailable.




15

Figure 4. Apparent Incidence: Galactosemia, 1991-2000


16

Phenylketonuria (PKU)

PKU is the result of an inability to break down the

amino acid phenylalanine, which is found in the protein of

foods. Infants may appear normal in the first few months of

life, but left untreated, PKU can cause mental and motor

retardation, microcephaly, poor growth rate, and seizures. With

early detection and proper dietary treatment, growth and

development should be normal.

Table 5. PKU cases and apparent incidence by state



Region 2 Delaware 11 111,542 0.10 Dist. of Columbia 1 169,169 0.01 Maryland 30 689,363 0.04 New Jersey 46 1,132,035 0.04 New York 137 2,717,145 0.05 Pennsylvania 105 1,540,411 0.07 Virginia 32 927,058 0.03 West Virginia 17 222,847 0.08

Region 3 Alabama 27 608,658 0.04 Florida 87 1,938,549 0.04 Georgia 45 1,178,731 0.04 Louisiana 25 681,043 0.04 Mississippi 18 416,095 0.04 North Carolina 31 1,075,129 0.03 South Carolina 24 518,370 0.05 Tennessee 38 798,534 0.05


Region 5 Arkansas 19 347,456 0.05 Iowa 26 378,283 0.07 Kansas 25 366,466 0.07 Missouri

1 39 776,669 0.05

Nebraska 13 238,211 0.05 North Dakota 7 95,852 0.07 Oklahoma 19 465,697 0.04 South Dakota 10 106,944 0.09


Region 7 Alaska 9 104,123 0.09 California 175 5,556,877 0.03 Hawaii 2 185,910 0.01 Idaho 17 181,002 0.09 Oregon 41 449,080 0.09 Washington 57 777,024 0.07

Totals 1,918 39,801,658 0.05 11991 data unavailable

17

Figure 5. Apparent Incidence: Phenylketonuria, 1991-2000


18

Maple Syrup Urine Disease (MSUD)

MSUD is a disorder due to a deficiency of the

branched-chain ketoacid decarboxylase enzyme affecting the

metabolism of amino acids. Newborns typically appear normal,

but by the first week of life can present with feeding

difficulties, lethargy, and failure to thrive. Left untreated, the

disorder can lead to progressive neurological problems,

acidosis, seizures, and sudden apnea that can rapidly lead to

coma and death. Treatment consists of strict dietary

management and supplements along with close developmental

monitoring and assessment. With early detection and treatment,

infants diagnosed with MSUD can avoid many of the severe

effects of the disease and lead normal lives.

Table 6. Maple Syrup Urine Disease cases and incidence by state


Region 1 Connecticut1 0 331,638 0.000

Maine 0 142,013 0.000 Massachusetts 2 840,895 0.002 New Hampshire 0 144,239 0.000 Rhode Island 1 140,744 0.007 Vermont 0 67,164 0.000

Region 2 Delaware2 0 105,557 0.000

District of Columbia 3 169,169 0.018 Maryland 6 689,363 0.009 New Jersey Not Required New York 9 2,717,145 0.003 Pennsylvania 16 1,540,411 0.010 Virginia 2 927,058 0.002 West Virginia Not Required

Region 3 Alabama Not Required Florida Not Required Georgia 9 1,178,731 0.008 Louisiana Not Required Mississippi Not Required North Carolina Not Required South Carolina Not Required Tennessee Not Required

Region 4 Illinois Not Required Indiana 1 843,890 0.001 Kentucky Not Required Michigan 7 1,363,489 0.005 Minnesota Not Required Ohio Not Required Wisconsin

3 0 141,248 0.000

Region 5 Arkansas Not Required Iowa

4 0 181,074 0.000

Kansas Not Required Missouri Not Required Nebraska Not Required North Dakota

5 0 80,712 0.000

Oklahoma Not Required South Dakota Not Required

Region 6 Arizona 3 744,355 0.004 Colorado

6 0 290,430 0.000

Montana Not Required Nevada 1 252,212 0.004 New Mexico Not Required Texas Not Required Utah Not Required Wyoming Not Required

Region 7 Alaska 0 104,123 0.000 California Not Required Hawaii

7 2 61,109 0.033


Totals 64 13,686,851 0.005 1Testing began 7/1993.

2Testing discontinued 7/1999.






19

Figure 6. Apparent Incidence: Maple Syrup Urine Disease, 1991-2000


20

Sickle Cell Diseases (SCD) – Including

S,S-Disease, S,C-Disease and S-β-

Thalassemia

Hemoglobinopathies are inherited disorders involving the

abnormal structure of the hemoglobin molecule, red blood

cells. There are hundreds of different hemoglobin types and

as a result, many different forms of hemoglobinopathies

exist. "Sickling" is the term referring to changes in the red

blood cell causing them to become hard, sticky, and

crescent shaped. These changes prevent them from moving

smoothly through the body. Affected newborns will appear

normal, but anemia develops in the first few months of life,

followed by increased susceptibility to infection, slow

growth rates and the possibility of life threatening splenic

sequestration. With appropriate medical care including

penicillin prophylaxis, appropriate vaccinations, and long

term management, the complications of sickle cell disease

can be minimized. Sickle cell anemia (S,S-disease; S/S) is

the most common type of clinically significant sickle cell

disease. The most common other clinically significant

forms of SCDs include S,C-disease (S/C) and S-β-

thalassemia (S/A), each with its own clinical characteristics.

Table 7. Cases of Sickle Cell Diseases (SCD) and apparent incidence by state

Region States

Cases Total

Cases Births

Incidence

S/S S/C S/A S/S S/C S/A SCD

Region 1 Connecticut 114 64 13 191 450,760 0.253 0.142 0.029 0.424 Maine

1 2 0 0 2 142,013 0.014 0.000 0.000 0.014

Massachusetts 187 109 11 307 840,895 0.222 0.130 0.013 0.365 New Hampshire † 0 1 0 1 144,239 0.000 †0.007 0.000 0.007 Rhode Island 34 18 3 55 140,744 0.242 0.128 0.021 0.391 Vermont 0 1 0 1 67,164 0.000 0.015 0.000 0.015

Region 2 Delaware2 45 28 3 76 111,542 0.403 0.251 0.027 0.681

Dist of Columbia

239 133 24 396 169,169 1.413 0.786 0.142 2.341

Maryland 433 217 60 710 689,363 0.628 0.315 0.087 1.030 New Jersey 490 244 55 789 1,132,035 0.433 0.216 0.049 0.697 New York 1594 768 97 2,459 2,717,145 0.587 0.283 0.036 0.905 Pennsylvania

3 362 177 20 559 1,273,607 0.284 0.139 0.016 0.439

Virginia 408 236 66 710 927,058 0.440 0.255 0.071 0.766 West Virginia† 8 6 1 15 60,641 †0.132 †0.099 †0.016 0.247

Region 3 Alabama 409 199 54 662 608,658 0.672 0.327 0.089 1.088 Florida

4 1017 541 201 1759 1,938,549 0.525 0.279 0.104 0.907

Georgia5 630 326 27 983 1,067,471 0.590 0.305 0.025 0.921

Louisiana 542 264 32 838 681,043 0.796 0.388 0.047 1.230 Mississippi 360 198 59 617 416,095 0.865 0.476 0.142 1.483 N. Carolina

6 559 273 11 843 1,075,129 0.520 0.254 0.047 0.784

S. Carolina7 448 236 89 773 518,370 0.864 0.455 0.172 1.491

Tennessee 310 168 113 591 798,534 0.388 0.210 0.142 0.740

Region 4 Illinois 849 437 100 1,386 1,833,397 0.463 0.238 0.055 0.756 Indiana

7 178 91 20 289 843,890 0.211 0.108 0.026 0.342

Kentucky 69 23 96 188 523,047 0.132 0.044 0.184 0.359 Michigan 528 297 30 855 1,363,489 0.387 0.218 0.022 0.627 Minnesota 60 28 44 132 650,602 0.092 0.043 0.068 0.203 Ohio

8 381 215 16 612 1,413,267 0.270 0.152 0.015 0.433

Wisconsin 128 69 24 221 677,543 0.189 0.102 0.035 0.326

Region 5 Arkansas 148 89 11 248 347,456 0.426 0.256 0.032 0.714 Iowa 18 11 8 37 378,283 0.048 0.029 0.021 0.098 Kansas

7 46 22 28 96 366,466 0.126 0.060 0.085 0.262

Missouri7 271 135 27 433 776,669 0.349 0.174 0.039 0.558

Nebraska9 10 3 0 13 120,200 0.083 0.031 0.000 0.108

North Dakota Not Required Oklahoma 89 44 13 146 465,697 0.191 0.094 0.028 0.314 South Dakota Not Reguired

Region 6 Arizona 59 21 2 82 744,355 0.079 0.028 0.003 0.110 Colorado 24 16 9 49 572,543 0.042 0.028 0.016 0.086 Montana

10 0 0 0 0 10,917 0.000 0.000 0.000 0.000

Nevada 56 16 1 73 252,212 0.222 0.063 0.004 0.289 New Mexico

11 3 0 0 3 269,995 0.011 0.000 0.000 0.011

Texas 882 375 82 1,339 3,366,219 0.262 0.111 0.024 0.398 Utah Not Required Wyoming 2 1 0 3 60,127 0.033 0.017 0.000 0.050

Region 7 Alaska Not Required California 691 320 93 1,104 5,556,877 0.124 0.058 0.017 0.199 Hawaii

12 5 2 0 7 145,976 0.034 0.014 0.000 0.048

Idaho Not Required Oregon

13 9 2 0 11 271,220 0.033 0.007 0.000 0.041

Washington14

35 17 19 71 777,024 0.045 0.022 0.024 0.091

Totals 12732 6441 1562 20,735 37,757,695 0.337 0.171 0.041 0.549 † Testing only offered to select population.

21992 S/A data unavailable.



5Select population screening for 1991 and 1992.

61991-1998 S/A data unavailable.


81993 data unavailable,1991-1992 S/A data unavailable.

9Testing began 11/1996

10Testing began for select

population only in 2000. 11




Testing began 5/1991.

21

Figure 7. Apparent Incidence: Sickle Cell Diseases, 1991-2000

Apparent National Incidence: S/S: 0.337 S/C: 0.171 S/A: 0.041

22

Sickle Cell Trait Sickle cell trait occurs when a gene for hemoglobin S is

inherited from one parent and a gene for hemoglobin A is

inherited from the other parent. Sickle cell trait rarely causes

medical problems, and individuals with trait are usually

healthy. Both parents must be carriers of sickle cell trait in

order to have a child affected with sickle cell disease.

Table 8. Sickle Cell Trait Cases and apparent incidence by state


Region 1 Connecticut 5,378 450,760 11.93 Maine

1 123 26,948 4.56

Massachusetts 7,795 840,895 9.27 New Hampshire 81 18,322 4.42 Rhode Island

2 1,158 113,948 10.16

Vermont 57 67,164 0.85

Region 2 Delaware3 1,758 100,181 17.55

Dist. of Columbia 8,161 169,169 48.24

Maryland 17,194 689,363 24.94 New Jersey 20,294 1,132,035 17.93 New York 60,677 2,717,145 22.33 Pennsylvania

4 8,357 1,273,607 6.56

Virginia 18,243 927,058 19.68 West Virginia

1 607 60,641 10.01

Region 3 Alabama 14,448 608,658 23.74 Florida 65,163 1,938,549 33.61 Georgia 31,011 1,067,471 29.05 Louisiana 21,175 681,043 31.09 Mississippi

5 9,488 248,785 38.14

N. Carolina 22,857 1,075,129 21.26 S. Carolina 17,339 518,370 33.45 Tennessee 11,771 719,705 16.36

Region 4 Illinois 43,217 1,833,397 23.57 Indiana

6 6,236 674,328 9.25

Kentucky 7 88 313,791 0.28

Michigan 19,062 1,363,489 13.98 Minnesota 3,217 650,602 4.94 Ohio 20,030 1,413,267 14.17 Wisconsin 6,007 677,543 8.87

Region 5 Arkansas 6,073 347,456 17.48 Iowa 1,257 378,283 3.32 Kansas 2,741 366,466 7.48 Missouri 10,239 776,669 13.18 Nebraska

8 274 120,200 2.28

North Dakota Not Required Oklahoma 3,991 465,697 8.57 South Dakota Not Required

Region 6 Arizona 2,886 744,355 3.88 Colorado 1,913 572,543 3.34 Montana

9 11 10,917 1.01

Nevada 2,851 252,212 11.30 New Mexico 430 269,995 1.59 Texas

10 46,590 3,366,219 13.84

Utah Not Required Wyoming 44 60,127 0.73

Region 7 Alaska Not Required California 45,766 5,556,877 8.24 Hawaii

11 459 145,976 3.14

Idaho Not Required Oregon

12 921 271,220 3.40

Washington 13

3,315 777,024 4.27

Totals 570,753 36,853,599 15.49 1Select population screening only

21997, 1998 data unavailable

31992 data unavailable

4Testing began in 9/1992

51997-2000 data unavailable




92000 data only.

10May include some repeats due to second screen.

11Testing began 1993



23

Figure 8. Apparent Incidence: Sickle Trait, 1991-2000


24

Cystic Fibrosis

CF results from an altered synthesis of a protein

involved in the transport of chloride ions. The major clinical

consequences are the production of abnormally thickened

mucous secretions in the lungs and digestive systems of

affected newborns. With early detection and lifelong

comprehensive treatment plans, infants diagnosed with CF can

be expected to live longer and in a better state of health than in

the past.

Congenital Toxoplasmosis

Congenital toxoplasmosis is caused by infection of the

fetus with the protozoan parasite Toxoplasma gondii, typically

by active infection of the mother during pregnancy. The

mothers can become infected by eating raw or undercooked

contaminated meat or by accidentally ingesting cat oocysts in

feces or in contaminated soil or unwashed vegetables. Signs of

congenital infection may be present at birth or develop over the

first few months of life. Newborns may show signs of central

nervous system disorders, enlargement of the liver and spleen,

blindness, and mental retardation. Early diagnosis and drug

therapy will greatly reduce the risk of serious complications.

Table 9. Cystic Fibrosis cases and apparent incidence by state


Region 1 Connecticut 1 45 354,449 0.13

Massachusetts 2 54 157,654 0.34

Region 4 Wisconsin 3

100 467,378 0.21

Region 6 Colorado 142 572,543 0.25 Montana

4 15 98,361 0.15

Wyoming 16 60,127 0.27

Totals 372 1,710,512 0.22 1 Testing offered to select populations since 1993; incidence calculations may not be completely valid 2 Testing began in 1999.

3 Testing began in 1994.

4 Selected testing began in 1992.

Table 10. Congenital toxoplasmosis cases and apparent incidence by state


Region 1 Massachusetts 81 840,895 0.10 New Hampshire 5 144,239 0.03

Totals Totals 86 985,134 0.09

25

Note: Incidence estimates for Connecticut and Montana are likely low

since screening is not universal and exact numbers screened are not

known.

Apparent National Incidence: 0.22 Apparent National Incidence: 0.09


Figure 9. Apparent Incidence: Cystic Fibrosis, 1991-2000

Figure 10. Apparent Incidence: Toxoplasmosis, 1991-2000

Figure 9. Apparent Incidence: Cystic Fibrosis, 1991-2000

10 year data report - national newborn screening and genetics

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