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- W2897675107 abstract "To assess population trends in ultrasound-indicated prenatal diagnostic testing over the past two decades, in the context of rapidly-changing practices in aneuploidy screening and chromosome analysis. Retrospective analysis of ultrasound-indicated amniocenteses and chorionic villus sampling from the Australian state of Victoria from 1994-2016. Primary ultrasound indications included: fetal structural abnormality, enlarged nuchal translucency, fetal death, fetal growth restriction, abnormal amniotic fluid volume, soft marker, or unspecified ultrasound abnormality. Maternal age, indication for testing, type of procedure, gestational age, type of chromosome analysis, and test results were obtained. Diagnostic yield (% tests yielding a major abnormality) was analysed by year, maternal age, and gestational age. Statistical analysis was performed with χ2 tests for trend or proportions. There were 1,533,317 births and 16,152 ultrasound-indicated diagnostic procedures from 1994-2016. Ultrasound abnormality has become the most common indication for prenatal diagnosis (29.4% of tests in 2013-2016) due to steep declines in other indications such as combined first trimester screening. In 2016, > 95% of ultrasound-indicated procedures were performed with chromosomal microarrays, and pathogenic copy number variants (CNVs) were present in 3.5%, replacing Trisomy 21 as the most common abnormal finding. Procedures performed > 20w maintained a diagnostic yield of around 9.0% throughout the study period, but had significantly lower yield than diagnostic testing performed < 16w (31.5%) or 16-19w (14.4%). Ultrasound is contributing to fetal aneuploidy detection in new ways in the genomic era. Pathogenic CNVs have replaced Trisomy 21 as the most common type of chromosome abnormality diagnosed after ultrasound-indicated testing. Testing prior to 16w consistently provides the highest diagnostic yield, supporting the benefits of first trimester fetal structural assessment in the cell-free DNA era." @default.
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- W2897675107 date "2018-10-01" @default.
- W2897675107 modified "2023-09-29" @default.
- W2897675107 title "OC02.01: The evolution of ultrasound-indicated prenatal diagnosis over the past two decades: a state-wide retrospective cohort study from 1994-2016" @default.
- W2897675107 doi "https://doi.org/10.1002/uog.19212" @default.
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