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Updated: Jun 21, 2026
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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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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.
Summary
Collaborative efforts reduced unnecessary genetic testing in the neonatal intensive care unit (NICU). This quality improvement initiative decreased simultaneous karyotype analysis and chromosomal microarray (CMA) testing, showing potential cost savings.
Area of Science:
- Medical Genetics
- Quality Improvement
- Neonatal Care
Background:
- Simultaneous karyotype analysis and chromosomal microarray (CMA) testing are often performed in neonatal intensive care units (NICUs).
- Reducing redundant genetic testing is crucial for optimizing healthcare resources and patient management.
Purpose of the Study:
- To decrease unnecessary simultaneous karyotype analysis and chromosomal microarray (CMA) testing in the NICU.
- To evaluate the impact of interdisciplinary collaboration on genetic testing practices.
Main Methods:
- A quality improvement study was conducted comparing baseline and intervention periods.
- Collaboration between NICU, cytogenetics, and clinical genetics teams was implemented.
- Key metrics included the number of genetic tests, rates of abnormal results, and genetics consults.
Main Results:
- Simultaneous karyotype and CMA testing significantly decreased.
- Karyotype testing rates dropped from 11.3% to 0.98% (p < 0.01).
- The frequency of abnormal karyotype analyses increased during the intervention period.
Conclusions:
- Interdisciplinary collaboration effectively reduced redundant genetic testing in the NICU.
- This approach demonstrated potential cost savings for the institution.
- Continued collaboration can align NICU genetic testing with evolving recommendations.
