Related Experiment Video
Updated: Feb 10, 2026
Examining Recall Memory in Infancy and Early Childhood Using the Elicited Imitation Paradigm
Published on: April 28, 2016
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
Monica H Wojcik1,2,3, Talia S Schwartz4,5, Inbar Yamin4,5
1Division of Newborn Medicine, Harvard Medical School, Boston, Massachusetts, USA. Monica.Wojcik@childrens.harvard.edu.
Insights
Many infants in neonatal intensive care units (NICUs) with rare genetic diseases are not diagnosed before death. Improving genetic testing in the NICU is crucial for timely diagnoses and end-of-life care.
Area of Science:
- Neonatal Medicine
- Clinical Genetics
- Pediatric Rare Diseases
Background:
- Infants in level IV neonatal intensive care units (NICUs) who do not survive early childhood may have undiagnosed rare genetic disorders.
- Genetic diagnostic evaluations are critical for understanding causes of mortality in this vulnerable population.
Purpose of the Study:
- To characterize the genetic diagnostic evaluation of infants admitted to a level IV NICU who died before age five.
- To assess the yield of genetic testing in identifying rare diseases in non-surviving NICU infants.
Main Methods:
- Retrospective analysis of infants admitted to a level IV NICU between 2011 and 2015, who died before age five.
- Review of medical records to identify genetic or metabolic disorder evaluations and confirmed diagnoses.
Main Results:
- Of 170 deceased infants, 106 (62%) underwent genetic evaluation, and 47 (28%) received a laboratory-confirmed genetic diagnosis.
- 30% of confirmed genetic diagnoses were made postmortem.
- Infants evaluated for genetic disorders had longer NICU stays and were older at death compared to those not evaluated.
Conclusions:
- While rare genetic disorders are suspected in many NICU deaths, confirmed diagnoses remain in a minority.
- A significant proportion of genetic diagnoses are established postmortem, highlighting a gap in timely genetic evaluation.
- Enhanced genetic diagnostic strategies in the NICU are needed to inform care and support end-of-life decision-making.
Purpose:
Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.
Methods:
This is a retrospective analysis of infants admitted to our NICU between 1 January 2011 and 31 December 2015 who were deceased at the time of records review, with age at death less than 5 years.
Results:
A total of 2,670 infants were admitted; 170 later died. One hundred six of 170 (62%) had an evaluation for a genetic or metabolic disorder. Forty-seven of 170 (28%) had laboratory-confirmed genetic diagnoses, although 14/47 (30%) diagnoses were made postmortem. Infants evaluated for a genetic disorder spent more time in the NICU (median 13.5 vs. 5.0 days; p = 0.003), were older at death (median 92.0 vs. 17.5 days; p < 0.001), and had similarly high rates of redirection of care (86% vs. 79%; p = 0.28).
Conclusion:
Genetic disorders were suspected in many infants but found in a minority. Approximately one-third of diagnosed infants died before a laboratory-confirmed genetic diagnosis was made. This highlights the need to improve genetic diagnostic evaluation in the NICU, particularly to support end-of-life decision making.
More Related Videos
Related Concept Videos
01:30Socioemotional Development during Infancy
Primary Temperament Types
01:24Diagnosing Acidosis and Alkalosis
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2 and...
02:18Intrinsically Disordered Proteins
02:16Genetics of Speciation
01:28Erikson's Theory on Socioemotional Development during Childhood
The first four of Erikson's eight...
01:25What is Population Genetics?