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Wisconsin Newborn Screening Laboratory Newsletter: 2005 Testing Summary Newborn Screening Newsletter No. 62
May 2006 Printable Version (PDF) 2005 Testing Summary This newsletter summarizes the newborn screening findings for the year 2005. The number of newborns screened (which reflects the birth rate) increased slightly (~1,000) over 2004. The distribution of specimen collection ages has remained constant since 2000. The number of repeat specimens has leveled off -- possibly due to full implementation of the low birth weight re-testing guidelines. Although the number of hypothyroid (43) babies detected in 2005 decreased substantially from 2004 (57), the 2005 number was still the second highest since screening began in 1978. This number includes 9 NICU babies that were identified on subsequent repeat screens after the initial screen was normal. Two very rare disorders were identified in 2005: Argininosuccinic acidemia (ASA) and beta-ketothiolase deficiency ( b -KT). One of the two Maple Syrup Urine Disease cases detected was done by mutation analysis since it was known that both parents were carriers. The baby was identified as having MSUD within 10 hours of birth.
Cumulative and 2005 Newborn Screening Statistics
GENERAL STATISTICS (Jan - Dec 2005)
Number of infants screened: 69,566 Number of repeat screens: 5,306 Total number of samples screened: 74,872
AGE AT TIME OF SAMPLE COLLECTION
Mean collection age: 39.2 hrs (39.0 in 2004) Median collection age: 37.5 hrs (37.2 hrs in 2004) ENDOCRINE SCREENING
* Screening began in March 1993 CYSTIC FIBROSIS SCREENING
* Screening for 25 mutant alleles began on March 1, 2002
METABOLIC SCREENING
* Screening began in February 1991 ** Screening began in April, 2000 *** Screening began in February 2003 HEMOGLOBINOPATHY SCREENING
* Reporting of S-beta & C-beta Thalassemia began in 1992
Other Issues
• The US Department of Health and Human Services (HHS) has finalized the recommended 29 core disorders that should be included in all state screening programs. In addition to the core panel, there is another list of 25 secondary disorders that HHS recommends that state programs "consider" reporting if the technology used can identify them. The Wisconsin program screens for all 29 core disorders and 19 of the secondary disorders. The states newborn screening advisory group has not recommended the additional 6 secondary disorders due to the timing of specimen collection and treatment issues. Therefore the current number of disorders screened for in Wisconsin is 48. A list of the disorders screened for can be seen by accessing our website: www.slh.wisc.edu/newborn
• The increase in the number of disorders screened for includes several that can be very life-threatening in the first few days of life. We ask each of you to review your shipping process to minimize the time specimens are kept in your facility. Items that should be addressed include time of courier pickup, staff coverage for illness and vacations, use of private courier vs UPS (state financed), etc. Minimizing transportation delays may result in improved outcomes for babies with life-threatening disorders.
• The newborn screening laboratory receives many inquires (phone and fax) for results. To expedite the retrieval of the information, the following demographic information is required:
In addition to requests for results, requests are made by the specimen submitter to correct information after the report from our lab has been received. Below are some guidelines for requesting corrections. Please share this information with all hospital staff that may make requests for corrections.
• All correction requests must be in writing (fax is ok). Be sure to include the information noted above. • Indicate if a corrected report is needed and if so should it be faxed or mailed. • Acceptable corrections • Obvious typographical errors • Addition of mother's first name • Correction to mother's first or last name • Correction of birth day and/or time* • Correction of specimen collection day and/or time* • Correction of birth weight* • Corrections that will NOT be made • Addition of baby's first name • Change the baby's last name • Change or addition of baby's ID number
*Changing date/time/weight may result in a different interpretation of the results.
Newborn Screening in Wisconsin - Thanks to YOU it's working!!
Also, best wishes and a special thank you to all of our 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 hard work. Certainly no one deserves more credit than YOU--the staff in the newborn units of every hospital, the NICUs and the physicians and nurses who receive the reports and follow-up with all of the babies. Special thanks to the midwives of Wisconsin for their efforts. Because of the dedication of all of you, in 2005 almost 100 babies (and their parents) have a very good chance to look forward to a nearly normal life as opposed to one of mental retardation, neurological impairment, or even death. Don't ever think that your efforts are not worth it -- just ask one of 100 sets of parents.
Cost of Newborn Screening - the best efforts from all of us;
Sincerely,
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