Wisconsin Newborn Screening Laboratory Newsletter

No. 63
July 2007

Printable Version (PDF)

2006 Testing Summary
This newsletter summarizes the Wisconsin Newborn Screening Program findings for the year 2006. The number of newborns screened (which reflects the birth rate) increased by about 1,000 over 2005. The distribution of age at time of specimen collection has remained constant since 2000. The number of repeat specimens remained about the same as the previous years. Hypothyroidism continues to be the most frequent discovered disorder. The 45 cases detected in 2006 represent the second highest annual total (there were 57 in 2004) since screening began in 1978. There has been a gradual increase in the rate of cases of hypothyroidism detected since the late 1990s. This increase has also been reported by several other states’ newborn screening programs, although reason for the trend is not fully understood.

CUMULATIVE AND 2006 NEWBORN SCREENING STATISTICS

GENERAL STATISTICS (Jan – Dec 2006)

Number of infants screened: 70,867
Number of repeat screens: 5,424
Total number of samples screened: 76,291

AGE AT TIME OF SAMPLE COLLECTION

AGE (IN HOURS) AT TIME OF INITIAL COLLECTION	NUMBER OF INFANTS JAN – DEC 2006	% OF TOTAL	CUMULATIVE %
0 – 11 12 – 23 24 – 35 36 – 47 48 – 71 72 - 95 96+ Unknown	410 1,180 29,411 24,974 10,924 1,932 1,963 36	0.6% 1.7.% 41.5%  35.2% 15.4%    2.7% 2.8%  0.1%	0.6% 2.3% 43.8% 79.0% 94.4% 97.1% 99.9% 100.0%

      Mean collection age: 39.2 hrs (39.0 in 2006)             Median collection age: 37.5 hrs (37.2 hrs in 2006)

ENDOCRINE SCREENING

INFANTS POSITIVE FOR:	JAN – DEC 2006	MAY 1978-DEC 2006
Hypothyroidism Congenital Adrenal Hyperplasia*	45 1	682 (24/yr) 62 (5/yr)

* Screening began in March 1993

CYSTIC FIBROSIS SCREENING

ABNORMAL RESULTS REPORTED	JAN – DEC 2006	JULY 1994 – DEC 2006
Number of Abnormals Reported*          With one mutant allele          With two mutant alleles          With IRT ≥ 170 ng/mL (no alleles) Confirmed Positive (i.e. with CF) by sweat test          With one mutant allele          With two mutant alleles          With no mutant alleles                       IRT ≥ 170 ng/mL                       IRT < 170 ng/mL Double Heterozygotes – Non-classical CF          ΔF508/R117H          ΔF508/I148T          R117H/R117H          R117H/I148T          2789+5G>A/R17OH          R117H/N1303K          ΔF508/I506V	178 12 26 4 12 0 0 2 0 0 0 0 1 1	2,106   (175/yr) 123   (10/yr) 428   (36/yr) 99   (8/yr) 104   (8/yr) 5 6 22 1 1 1 1 2 1

* Screening for 25 mutant alleles began on March 1, 2002

METABOLIC SCREENING

INFANTS POSITIVE FOR:	JAN – DEC 2006	MAY 1978-DEC 2006
Phenylketonuria (PKU) Galactosemia Biotinidase Deficiency* Fatty Acid Oxidation**      MCAD      SCAD      VLCAD      GA-II      CPTII Organic Acidemia**      MMA      PA      3-MCC      IVA      GA-I      2MBCD      ß-KT Aminoacidopathies***      Citrulinemia (type II)      Tyrosinemia (type II)      Homocystinuria      Maple Syrup Urine Disease      Argininosuccinic Acidemia	5 1 0 3 4 1 0 0 1 1 1 2 3 8 1 0 0 0 0 0	180   (6/yr) 35   (1.5/yr) 9   (1/yr) 20   (4/yr) 21   (4/yr) 2 2 1 10   (7 mild/benign) 4 16   (3/yr) 5 5 30   (4/yr) 1 1 1 1 2 1

* Screening began in February 1991
** Screening began in April, 2000
*** Screening began in February 2003

HEMOGLOBINOPATHY SCREENING

INFANTS POSITIVE FOR:	JAN – DEC 2006	NOV 1988 – DEC 2006
Sickle Cell Disease (FS) Sickle Hemoglobin C Disease (FSC) Hemoglobin C Disease (FC) Sickle Cell Trait (FAS) Hemoglobin C Trait (FAC) S-beta Thalassemia (FSA)* C-beta Thalassemia (FCA)* Hemoglobin E Disease Hemoglobin CE Disease	16 9 1 702 206 3 2 1 0	229   (12/yr) 119   (6/yr) 22   (1/yr) 9.987   (572/yr) 2,965   (170/yr) 34   (2/yr) 12   (<1/yr) 57   (3/yr ) 1

* Reporting of S-beta & C-beta thalassemia began in 1992

OTHER ISSUES

• Earlier this spring there were media reports that Wisconsin was starting to screen for severe combined immunodeficiency (SCID). The announcement was a bit premature; we are actively researching the possibility of screening for SCID. This research will proceed in three phases. The first is method development. Although a potential method, measurement of T-cell receptor excision circles has been proposed in a research setting (Kee Chan, Jennifer Puck; “Development of Population Based Newborn Screening for Severe Combined Immunodeficiency;” 2005 American Academy of Allergy, Asthma, and Immunology), it has not been applied in a routine newborn screening program. In the method development phase, DNA extraction efficiency, reproducibility, standardization, etc., need to be determined before routine screening can begin. The second phase is a pilot study to determine the feasibility of SCID screening. In this phase, the robustness of the assay will be evaluated by testing hundreds of specimens per day. The third phase will be an implementation phase, where all specimens received in the newborn screening laboratory will be analyzed. Statistical parameters such as sensitivity, specificity, positive and negative predicative value, etc., will be determined and reported. Phases 2 and 3 will require pre-approval and completion of the administrative process for adding new tests which is described in the DHFS statute. We hope to launch the pilot phase study early in 2008. 


• Please mark the dates of Monday September 17 (12:00 pm – 1:00 pm) and Monday September 24, 2007 (12:00 pm – 1:00 pm) for a webcast devoted to issues around newborn screening. The title is “Newborn Screening – It is not just the PKU test any more.” Useful information includes a history of newborn screening in Wisconsin, the results of almost 30 years of screening, tips on completing the blood collection form and specimen collection, unsatisfactory specimen review, and newborn screening from a physician’s point of view. More information will be provided later this summer on how to sign up for the webcast.


• During August 2006 members of the newborn screening staff visited almost every hospital in the state and delivered the brochure for new parents, describing several important program changes and updates. During these visits we discussed the possibility of designating a person in each hospital as a contact for newborn screening issues. One of our goals is to establish a continuous dialog between the newborn screening program and each hospital contact. This goal is also being promoted through the quarterly electronic newsletter where one or two current NBS related issues are discussed. The January and April 2007 newsletters have been sent previously.

Newborn Screening in Wisconsin - Thanks to YOU it’s working!!

Finally, a special “thank-you” to you personally, and to our many Wisconsin colleagues, from all of us in the Newborn Screening Program (Wisconsin Division of Public Health and the State Laboratory of Hygiene). At the end of the day, every day, the babies in Wisconsin benefit from all of our collective hard work. Certainly, no one deserves more credit than YOU--the staff in the newborn units and laboratories in every hospital, the NICUs, and the physicians and nurses who receive the reports and follow-up on all of the babies. Special thanks to the midwives of Wisconsin for their efforts. Because of everyone’s collective efforts and dedication, in 2006 almost 100 babies (and their parents) have a very good chance to look forward to a nearly normal life, in contrast to one of mental retardation, neurological impairment, or even death. Don’t ever think that your efforts are not worth it -- you only have to ask one of the 100 sets of parents.

Cost of Newborn Screening – the best efforts from all of us;

Favorable newborn screening outcomes – PRICELESS!

Sincerely,

Charles D. Brokopp, DrPH Director, State Laboratory of Hygiene Professor Population Health Sciences University of Wisconsin - Madison	Murray L. Katcher, MD, PhD. Chief Medical Officer for Family and Community Health State Maternal and Child Health Director Wisconsin Division of Public Health
Ronald H. Laessig, PhD Emeritus Director, State Laboratory of Hygiene Emeritus Professor Population Health Sciences University of Wisconsin - Madison