Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population‐based study

Abstract

BackgroundAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.ObjectiveTo examine changes in rates of prenatal diagnosis of congenital anomalies over time and by demographic characteristics.MethodsWe 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.ResultsPrenatal 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).ConclusionsIncreases 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.

Fatores maternos e neonatais associados às anomalias congênitas

“…22 Em relação ao escore de Apgar, foi observado que, quanto maior o escore no 5º minuto, menor foi a chance de ocorrência de AC. Visto que a grande parte dos recém-nascidos com anomalia apresenta complicações, como distocias, problemas respiratórios ou infecções, 9 infere-se que seus índices de Apgar sejam menores quando comparados aos recém-nascidos sem anomalia.…”

“…Apesar de o estudo não contar com dados relativos ao uso de ácido fólico durante a gestação, sabe-se que sua suplementação previne a ocorrência de AC, principalmente relacionadas aos defeitos do tubo neural. 9 Dessa maneira, o atendimento ao pré-natal deve levar em consideração esse fator e assegurar a suplementação adequada de acordo com as evidências científicas disponíveis.…”

“…Outros fatores associados descritos na literatura são: histórico de malformações congênitas, 8-9 idade, 9 cor da pele, suplementação de ácido fólico e uso de tabaco. 5 Em relação aos fatores neonatais associados às AC estão: prematuridade, sexo masculino e escore de Apgar menor de 7.…”

Adverse Pregnancy and Child Outcomes in Oral Retinoid-Exposed Pregnancies: A Nationwide Population-Based Study

“…First, this may be attributed to the increased detection of congenital malformations via prenatal diagnosis. 38 Given that most studies evaluating congenital malformations have been conducted based on live births, those diagnosed with malformations through prenatal diagnosis and chose to have an abortion may have affected the incidence of congenital malformations. It may also have been influenced by increased awareness of oral retinoids as teratogens through efforts such as pregnancy prevention programs in many countries, which has led oral retinoid users to use them more cautiously than in the past.…”