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Am J Perinatol
DOI: 10.1055/a-2800-4140
Original Article

Genetic Testing and Challenges in a Level IV Midwestern NICU: Who, What, When, and Then?

Authors

  • Hannah McBride

    1   Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States

  • Jessica Scott Schwoerer

    1   Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
    2   Division of Pediatric Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States

  • Erin Rholl 

    1   Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
    3   Division of Pediatric Palliative Care, Medical College of Wisconsin, Milwaukee, Wisconsin, United States

  • Krishna Acharya 

    1   Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
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Abstract

Objective

This study aimed to examine genetic testing strategies and their impact on redirection of care and on reducing prognostic uncertainty in the NICU.

Study Design

This is a retrospective cohort study from 2020 to 2021.

Results

Out of 774 NICU infants, 133 (17%) received genetic testing, most commonly whole exome sequencing. A genetic diagnosis was achieved in 33% of cases. About 70% of infants who received genetic testing were not critically ill. Decisions about redirection of care were associated with presence of critical illness and not presence of genetic diagnosis. Many rare diagnoses were made through genetic testing in the NICU, but except for certain chromosomal anomalies, these diagnoses had wide variability in reported phenotypic presentations.

Conclusion

Genetic testing achieves a unifying diagnosis for many NICU patients, yet many of these diagnoses have variable clinical presentations. Redirection of care in the NICU is reliant on clinical illness severity more often than achievement of a genetic diagnosis. Clinicians must provide meaningful interpretation of genetic test results to families and be prepared to confront uncertainty even after pathogenic variants are found.

Key Points

  • One-fifth of NICU patients received genetic testing.

  • Often, these patients were not critically ill.

  • Genetic diagnosis was made in a third of patients tested.

  • Most diagnoses had variable phenotypic presentations.

  • Redirection of care was associated with critical illness.

Keywords

genetic testing - clinical severity - redirection of care

Data Availability Statement

The dataset generated and analyzed during the current study are not publicly available due to privacy reasons as they include patient or parent identifiers.


Contributors' Statement

H.M.: data curation, formal analysis, investigation, writing—original draft; J.S.S.: conceptualization, investigation, methodology, resources, supervision, writing—original draft, writing—review and editing; E.R.: conceptualization, formal analysis, investigation, methodology, resources, supervision, writing—original draft, writing—review and editing; K.A.: conceptualization, data curation, formal analysis, investigation, methodology, supervision, validation, writing—original draft, writing—review and editing.


Supplementary Material



Publication History

Received: 20 October 2025

Accepted: 28 January 2026

Accepted Manuscript online:
30 January 2026

Article published online:
10 February 2026

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