Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

Area of Science:

• Genetics and Developmental Biology
• Public Health and Epidemiology
• Perinatal Medicine

Background:

• Congenital anomalies like Trisomy 13 (T13) and Trisomy 18 (T18) significantly impact pregnancy outcomes and infant survival.
• Understanding the global prevalence and mortality patterns of T13 and T18 is crucial for public health initiatives and clinical management.

Purpose of the Study:

• To determine the prevalence, outcomes, and survival rates of pregnancies diagnosed with Trisomy 13 (T13) and Trisomy 18 (T18).
• To analyze variations in prevalence and outcomes based on congenital anomaly registers and regional differences, including termination policies.

Main Methods:

• Utilized data from 24 population- and hospital-based birth defects surveillance registers across 18 countries, spanning from 1974 to 2014.
• Employed a common data-reporting protocol to ensure consistency in data collection for T13 and T18 cases.
• Included live births (LB), stillbirths, and elective terminations of pregnancy for fetal anomalies (ETOPFA) in the prevalence calculations.

Main Results:

• Mean total birth prevalence per 10,000 births was 1.68 for T13 and 4.08 for T18 (in registers with ETOPFA).
• Mean prevalence among live births was 0.55 for T13 and 1.07 for T18 per 10,000 births.
• First-week mortality was high (48% for T13, 42% for T18), with 87% and 88% mortality within the first year for T13 and T18, respectively.

Conclusions:

• Outcomes and survival for live-born infants with T13 and T18 are poor, with substantial early mortality.
• Significant variations in prevalence and outcomes exist across countries, influenced by termination policies and reporting practices.
• The study underscores the need for standardized screening, data collection, and reporting for these conditions globally.