Collaborative efforts between clinical genetics, cytogenetics, and neonatology improve genetic testing practices in the NICU

Genetic disorders, taken together, are overrepresented in the neonatal intensive care unit (NICU) population. As chromosome abnormalities are frequent findings in these patients, karyotype and chromosomal microarray analysis (CMA) are commonly used first-line tests. Historically, karyotype studies were the primary test for these patients, offering a fast turnaround time (TAT) and an unbiased approach to whole genome analysis. When CMAs came into use, both tests were frequently performed concurrently to obtain results as quickly as possible as CMA testing often had a longer TAT than karyotype.