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.
The study evaluates the utility of Electronic Clinical Laboratory Reporting System as a source to the Congenital Malformations Registry by matching laboratory test reports submitted via Electronic Clinical Laboratory Reporting System to Congenital Malformations Registry cases to obtain confirmatory diagnoses and identify unreported cases with chromosomal anomalies.
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).
Correspondence: Ying Wang, PhD, Center for Environmental Health, New York State Department of Health, Empire State Plaza, Corning Tower, Room 1203, Albany, NY 12237 (firstname.lastname@example.org).
The authors thank Mr Charles Fisher and his staff for their technical support and developing the Web-based online data entry application that allows laboratories to submit their cytogenetic tests and chromosomal analysis reports on the New York children to the Congenital Malformations Registry via Electronic Clinical Laboratory Reporting System.
This study was financially supported in part by the Environmental Public Health Tracking project, funded by the US Centers for Disease Control and Prevention.
The authors declare no conflicts of interest.