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Electronic clinical laboratory reports as a source for ascertaining and confirming chromosomal anomalies reported to the new york state congenital malformations registry.
MedLine Citation:
PMID:  23358302     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
CONTEXT: : Hospitals and physicians are required to submit case reports with confirmatory diagnosis information to the New York State Congenital Malformations Registry (CMR) on children who are born or reside in New York State and are diagnosed with major birth defects. However, the majority of the cases with chromosomal anomalies indicated in the hospital discharge files are reported to the CMR without confirmatory testing data, which are usually not available at the time of reporting.
OBJECTIVE: : To link the cytogenetic test reports, submitted by cytogenetic testing laboratories via Electronic Clinical Laboratory Reporting System (ECLRS), to the CMR cases in order to obtain confirmatory diagnoses and identify unreported cases with chromosomal anomalies.
DESIGN: : Cytogenetic testing data, submitted by the New York State licensed laboratories, that are stored on the ECLRS Sybase server were retrieved and matched to the CMR cases. The laboratory testing results were used to confirm diagnoses of the CMR cases for matched reports and to ascertain new birth defects cases by auditing hospitals and physicians using unmatched reports with abnormal testing results.
RESULTS: : By the end of 2010, a total of 927 reports on 747 children were submitted to the CMR by 14 cytogenetic testing laboratories via the New York State Department of Health ECLRS. Among the 747 children reported, 398 children (53%) had abnormal test results and 412 children (55%) were matched to the CMR cases. From these laboratory reports, 151 new cases with chromosomal anomalies were identified, confirmed, and were added to the CMR. The additional cases accounted for about 7.8% of all cases with chromosomal anomalies in the CMR for the reporting years 2008-2010.
CONCLUSIONS: : Cytogenetic laboratory reports can serve as an important source for ascertaining and confirming chromosomal anomalies. Acquiring molecular genetics testing data directly from cytogenetic testing laboratories via ECLRS enables CMR staff to confirm diagnoses and improve the accuracy and efficiency of case reporting.
Authors:
Zhen Tao; Ying Wang; Dave K Dicesare; Hwa-Gan H Chang; Patricia M Steen; Philip K Cross; Charlotte M Druschel
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of public health management and practice : JPHMP     Volume:  19     ISSN:  1550-5022     ISO Abbreviation:  J Public Health Manag Pract     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505213     Medline TA:  J Public Health Manag Pract     Country:  United States    
Other Details:
Languages:  eng     Pagination:  E17-24     Citation Subset:  T    
Affiliation:
The Congenital Malformations Registry, Bureau of Environmental and Occupational Epidemiology, Center for Environmental Health (Drs Tao, Wang, and Druschel, Ms Steen, and Mr Cross) and Division of Epidemiology (Mr DiCesare and Dr Chang), New York State Department of Health, Albany; and School of Public Health, New York State University at Albany, Albany (Drs Wang and Druschel).
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