Congenital malformations among liveborn infants with trisomies 18 and 13

Area of Science:

• Genetics
• Pediatrics
• Public Health

Background:

• Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) are chromosomal abnormalities associated with severe congenital anomalies and high mortality rates, often within the first month of life.
• Existing research on these conditions is limited by small sample sizes and outdated data, necessitating updated epidemiological characterization.

Purpose of the Study:

• To characterize the spectrum of comorbid birth defects in liveborn infants with trisomy 18 and trisomy 13 using large, nationally representative US databases.
• To provide updated prevalence data for trisomy 18 and trisomy 13 and identify common co-occurring malformations.

Main Methods:

• Utilized the Healthcare Cost and Utilization Project's Kids' Inpatient Database (KID) and Nationwide Inpatient Sample (NIS) for comprehensive analysis of US liveborn infants.
• Compared the occurrence of 39 commonly reported birth defects in infants with trisomy 18 and trisomy 13 against a control group of newborns without these trisomies.

Main Results:

• Prevalence rates were found to be 1.29/10,000 for trisomy 18 and 0.85/10,000 for trisomy 13.
• Among infants with trisomy 18, 45.4% had heart defects. In trisomy 13, common anomalies included heart defects (38.4%), orofacial anomalies (24.5%), and central nervous system abnormalities (11.2%).
• Over half of newborns diagnosed with either trisomy 18 or 13 did not survive until hospital discharge.

Conclusions:

• This study offers current epidemiological data on birth defects associated with trisomy 18 and 13 in liveborn infants.
• The findings underscore the critical need for informed clinical decision-making and enhanced support for families facing these diagnoses.
• Updated information is crucial for healthcare providers to better prepare families for the complexities and outcomes associated with trisomy 18 and 13.