Are routine genetic and urine cytomegalovirus testing useful investigations in symmetrically growth restricted...

Area of Science:

• Medical Genetics
• Neonatal Care
• Pediatric Diagnostics

Background:

• Newborn genetic testing is crucial for identifying congenital disorders.
• Intrauterine growth restriction (IUGR) can be associated with genetic and chromosomal abnormalities.
• Cytomegalovirus (CMV) infection is a common cause of congenital infections with potential long-term effects.

Purpose of the Study:

• To evaluate the diagnostic yield of genetic testing in a large cohort of newborns.
• To assess the utility of genetic testing specifically in infants with symmetric intrauterine growth restriction.
• To determine the prevalence of positive urine CMV testing in newborns.

Main Methods:

• Retrospective analysis of genetic testing results over a six-year period.
• Inclusion criteria: 1118 newborns undergoing genetic testing, with a subset of 162 infants diagnosed with symmetric growth retardation.
• Urine cytomegalovirus (CMV) testing performed on 118 infants.

Main Results:

• Only six out of 1118 newborns (0.5%) had positive genetic testing results indicating significant chromosomal abnormalities.
• The odds ratio for positive genetic results in growth-retarded infants was low (0.21).
• One out of 118 infants tested positive for urine CMV.

Conclusions:

• Routine genetic testing in newborns, even those with symmetric growth restriction, demonstrates a low diagnostic yield for chromosomal abnormalities.
• The findings suggest that genetic testing may not be cost-effective for broad screening in this population.
• Urine CMV testing revealed a low prevalence in the studied cohort.