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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based
Cassandra MacArthur1, Michele Hansen2, Gareth Baynam3,4,5
1School of Population and Global Health, The University of Western Australia, Crawley, Western Australia, Australia.
Insights
Prenatal diagnosis of congenital anomalies significantly increased from 1980-2020 due to screening advances. However, diagnosis rates were lower in remote areas and for Aboriginal children, highlighting a need for improved antenatal care.
Area of Science:
- Medical Diagnostics
- Genetics
- Public Health
Background:
- Screening and diagnostic technologies have advanced, transforming the identification and diagnosis of congenital anomalies.
- Congenital anomalies represent a significant global health concern, necessitating effective diagnostic strategies.
Purpose of the Study:
- To analyze temporal trends in prenatal diagnosis rates for congenital anomalies.
- To investigate associations between prenatal diagnosis and demographic factors.
Main Methods:
- Population-based retrospective cohort study of children born in Western Australia (1980-2020).
- Analysis of age at diagnosis, prevalence (all-type and type-specific), and prevalence ratios.
- Utilized joinpoint and log-binomial regression models to assess temporal changes and demographic associations.
Main Results:
- Prenatal diagnosis prevalence increased 5.5-fold between 1980-1989 and 2005-2014.
- Significant increases observed for cardiovascular, urogenital, and chromosomal anomalies.
- Prenatal diagnosis associated with birth year, advanced maternal age, multiple/major anomalies, remoteness, and Aboriginality.
Conclusions:
- Advances in screening have led to increased prenatal diagnosis of congenital anomalies.
- Lower rates in remote regions and among Aboriginal children underscore disparities in antenatal care access.
- Recommendations for enhanced antenatal care services for underserved populations.
Background:
Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
Objective:
To examine changes in rates of prenatal diagnosis of congenital anomalies over time and by demographic characteristics.
Methods:
We undertook a population-based retrospective cohort study of all children born in Western Australia between 1980 and 2020 and diagnosed with a congenital anomaly. Age at diagnosis (prenatal, neonatal, infancy, early childhood or childhood) prevalence (all-type and type-specific), and prevalence ratios (PR) were calculated. We fit joinpoint regression models to describe the average annual percentage change (APC) in prenatal diagnosis over time, and log-binomial regression models to estimate the association between prenatal diagnosis and demographic characteristics.
Results:
Prenatal diagnosis prevalence between the first (1980-1989: 28.3 per 10,000 births) and last (2005-2014: 156.1 per 10,000 births) decades of the study increased 5.5-fold (95% confidence interval [CI] 5.0, 5.9). Substantial increases were observed for cardiovascular (PR 10.7, 95% CI 8.0, 14.6), urogenital (PR 10.5, 95% CI: 8.7, 12.6) and chromosomal anomalies (PR 7.0, 95% CI 5.9, 8.3). Prenatal diagnosis was positively associated with the birth year (adjusted risk ratio [RR] 1.04, 95% CI 1.03, 1.04), advanced maternal age (RR 1.14, 95% CI 1.11, 1.18), multiple anomalies (RR 2.86, 95% CI 2.77, 2.96) and major anomalies (RR 3.75, 95% CI 3.36, 4.19), and inversely associated with remoteness (RR 0.89, 95% CI: 0.83, 0.95) and Aboriginality (RR 0.90, 95% CI 0.83, 0.97).
Conclusions:
Increases in prenatal diagnosis of congenital anomalies were observed in Western Australia from 1980 to 2020, reflecting advances in screening. Prenatal diagnosis was less common in remote regions and in Aboriginal children, strengthening calls for increased provision of antenatal care services for these populations.
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