Related Experiment Video
Updated: Jun 21, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Collaborative efforts to improve genetic testing in the neonatal intensive care unit
Bryce A Schuler1, Mackenzie Mosera2, L Dupree Hatch2
1Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA. Bryce.a.schuler@vumc.org.
Objective:
To reduce unnecessary simultaneous karyotype analysis and chromosomal microarray (CMA) testing in the neonatal intensive care unit (NICU).
Study Design:
This quality improvement study investigated the effect of collaborative efforts between the NICU, cytogenetics, and clinical genetics on numbers of genetic tests, rates of abnormal tests, and number of genetics consults comparing baseline and 5-month intervention periods.
Results:
Simultaneous karyotype analyses and CMAs decreased due to a decrease in karyotype testing (11.3% [68/600] vs. 0.98% [6/614], p < 0.01). Karyotype analyses were more likely to be abnormal (13.8% [12/87] vs. 64.0% [16/25], p < 0.01). Frequency of genetics consultation did not change (7.0% [42/600] vs. 9.4% [58/614], p = 0.12).
Conclusion:
Collaborative efforts between the NICU, cytogenetics, and clinical genetics decreased redundant genetic testing, which demonstrated potential cost savings to our institution. Ongoing collaborative efforts could facilitate genetic testing practices in the NICU that readily evolve in tandem with genetic testing recommendations.
