Prenatal Diagnosis of Central Nervous System Malformations

Pilu, Gianluigi; Gabrielli, S.

doi:10.1002/9780470753293.ch23

Cited by 1 publication

(2 citation statements)

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“…NTD are more likely to be diagnosed prenatally than other nervous system anomalies, and since a large proportion of NTD are prevented through folate supplementation and fortification whilst other nervous system anomalies are not, the magnitude of improvement in prenatal diagnosis appears lessened. For overall age at diagnosis, approximately 17% of structural nervous system anomalies are not currently detectable prenatally, 42 and most functional nervous system anomalies, excluding congenital hearing loss, are not detectable at birth 43 …”

Section: Discussionmentioning

confidence: 99%

“…For overall age at diagnosis, approximately 17% of structural nervous system anomalies are not currently detectable prenatally, 42 and most functional nervous system anomalies, excluding congenital hearing loss, are not detectable at birth. 43 Living remotely was associated with reduced likelihood of prenatal diagnosis of any anomaly for both Aboriginal and non-Aboriginal populations. However, the negative impact of remote residence was more pronounced in Aboriginal births, as previously reported.…”

Section: Prenatal Diagnosis Prevalence Is a Key Public Health Indicat...mentioning

confidence: 99%

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

MacArthur

Hansen

Baynam

et al. 2023

Paediatric Perinatal Epid

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Prenatal Diagnosis Prevalence Is a Key Public Health Indicat...mentioning

confidence: 99%