SHM Converge Scientific Abstract ePoster Gallery-Genetic Testing in a Midwestern Level Iv Nicu: Who, What, When, and Then?

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This retrospective chart review examined genetic testing in a Midwestern Level IV NICU to understand who was tested, what tests were ordered, when they were performed, and how results affected care. Among 774 NICU admissions from 1/1/2020 to 1/1/2021, 134 infants (17%) received a genetics evaluation, and 110 charts were reviewed in detail.<br /><br />The most common admission diagnosis was congenital anomaly/anomalies (58%), followed by respiratory distress (14%) and prematurity (9%). Whole exome sequencing was the most frequently ordered test (55%), with gene panels (17%), microarray (7%), karyotype (6%), FISH (5%), and single-gene testing (3%) also used. Most infants had a single genetic test ordered (78%).<br /><br />Testing was sent a median of 3 days after admission (IQR 1–7), but results took much longer, with a median turnaround of 23 days (IQR 16–32). Overall diagnostic yield was 31%: 30% of tested infants received a genetic diagnosis and 69% did not. Yield varied by test type, with the highest yields seen in karyotype (57%) and gene panels (50%), though whole exome sequencing remained the most commonly used test.<br /><br />The study also assessed redirection of care. Decisions were primarily driven by clinical severity, but some infants may have benefited from earlier diagnosis to support clearer decision-making.<br /><br />The authors concluded that about one-fifth of NICU patients received genetics evaluation, whole exome sequencing was commonly used, and delays in result time were substantial. In response, the unit implemented guidelines to improve test selection and speed. Future work will evaluate more recent charts to determine whether testing patterns and diagnostic yield have improved over time.

Asset Subtitle

Hannah McBride

Meta Tag

Author List Erin Rholl, Hannah McBride, Jessica Scott Schwoerer, Krishna Acharya

Category Research

Concept Genetic Testing

Concept Genetics Consultation

Concept Level IV NICU

Concept Turnaround Time

Concept Diagnostic Yield

Distinguished Non-Finalist

Presenter Organization MCW

Presenting Author Hannah McBride

Track Pediatric

Keywords

NICU

genetic testing

whole exome sequencing

retrospective chart review

diagnostic yield

congenital anomalies

gene panels

microarray

turnaround time

genetics evaluation

Genetic Testing

Genetics Consultation

Level IV NICU

Turnaround Time

Diagnostic Yield