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Updated: Mar 6, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to
Kristine Johnson1, Joanne Kelley2, Virginia Saxton3
1University of British Columbia, Vancouver, British Columbia, Canada.
Background:
In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling (CVS), creating new implications for specialist training.
Objective:
To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015.
Methods:
Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015. Numbers of procedures, indications for testing, type of test and diagnostic results were analysed. Trends in the annual numbers of procedures were compared to national population-based data from Medicare Benefits Schedule database.
Results:
The annual numbers of diagnostic procedures in our tertiary centre fell from 267 to 215 over the study period, representing a 19.5% decline. This was significantly smaller than the corresponding national decline of 53.7% for the same period (P < 0.0001). In 2015, ultrasound abnormality (including nuchal translucency ≥ 3.5 mm) surpassed high-risk screening results as the most common indication for invasive testing. Thirty percent of procedures performed for an ultrasound abnormality occurred prior to 18 weeks gestation.
Conclusion:
Our tertiary centre experienced a relatively smaller decline in prenatal diagnostic procedures compared with national figures, largely due to an increase in testing for ultrasound abnormalities. Our results demonstrate the increasing contribution of first trimester ultrasound in the detection of fetal abnormalities in the cell-free DNA era and the continued viability of specialist training in invasive procedures.
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