2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE)

Characteristics and Genetic Testing of Infants with Neonatal Encephalopathy Not Due Hypoxic Ischemic Encephalopathy (HIE)

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Pdf Summary

Neonatal encephalopathy (NE) is a clinically diverse condition with various underlying causes. This study reviewed a cohort of 193 infants with at least one sign of NE, excluding those with hypoxic-ischemic encephalopathy (HIE). Genetic etiologies were found in 16 cases prior to discharge, with an additional 15 identified in the outpatient setting. The most common genetic disorders were Prader-Willi syndrome, KCNQ2-related epilepsy, and 22q11.2 deletion syndrome. Some disorders were identified that are not typically associated with NE. Nineteen patients died before hospital discharge. Infants with a genetic diagnosis had more palliative care consults and were more likely to have a DNR/DNI order placed. Infants without genetic testing died at a younger age than those with testing. <br /><br />Genetic testing was performed on 45% of the patients, using three categories: chromosomal, targeted, and exome sequencing. There was no difference in diagnostic yield based on the type of genetic test or the presence of congenital anomalies or dysmorphic features. <br /><br />The findings have implications for end-of-life care, as infants with a genetic diagnosis had more palliative care consults and a higher likelihood of having a DNR/DNI order. Additionally, infants without genetic testing died at a younger age. <br /><br />In conclusion, genetic testing can provide valuable information for infants with NE who lack a perinatal cause. It can identify genetic etiologies that may not be traditionally associated with NE and can have implications for end-of-life care decisions.

Asset Subtitle

Presenting Author - Arthur L. Lenahan, III, MD, MPH; Co-Author - Janessa Law, MD;

Meta Tag

Clinical Applications of Molecular Cytogenetics

Clinical History

Congenital Anomaly

Delineation of Diseases

Differentiation

Etiology

Phenotypic delineation of disorders

Co-Author Janessa Law, MD

Presenting Author Arthur L. Lenahan, III, MD, MPH

Keywords

Neonatal encephalopathy

underlying causes

genetic etiologies

Prader-Willi syndrome

KCNQ2-related epilepsy

22q11.2 deletion syndrome

palliative care consults

DNR/DNI order

genetic testing

end-of-life care