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Updated: Apr 5, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Emerging issues in invasive prenatal diagnosis: Safety and competency in the post-NIPT era
Lisa Hui1,2,3, Stephanie The4,5, Elizabeth A McCarthy1,2
1Maternal Fetal Medicine, Department of Perinatal Medicine, The Mercy Hospital for Women, Heidelberg, Victoria, Australia.
Background:
Numbers of invasive prenatal procedures are declining in response to improved aneuploidy screening methods.
Objective:
To assess current practice and attitudes of clinicians performing invasive prenatal diagnosis in regard to patient consent and safety, maintaining procedural competence and uptake of chromosomal microarrays (CMAs).
Methods:
Anonymous online survey of the Australian Association of Obstetrical and Gynaecological Ultrasonologists conducted in March 2015.
Results:
The survey had a 45% response rate with 59 respondents from Australia. Of these, 34 were subspecialists in maternal fetal medicine or obstetric and gynaecological ultrasound. Fifty-six (95%) currently performed amniocentesis or chorionic villus sampling. Of these, 14 (25%) performed <25 procedures and 8 (14%) performed >150 annually, with most respondents (60%) proposing 10-25 amniocenteses/year as adequate activity to maintain their skills. The majority neither expected referrers to provide results of hepatitis B and HIV serology, nor followed up missing results. There was uncertainty regarding the procedure-related vertical transmission risk of HBV in women with high viral load, with most respondents stating they were either unsure of the risk (22%) or that the risk was unknown (30%). Fifty per cent of practitioners routinely ordered CMA after invasive testing; all recommended CMA following a diagnosis of structural abnormality.
Conclusions:
In a period of declining testing, many Australian specialists are performing <25 procedures annually. Consideration of the potential risks of bloodborne viruses is limited. CMAs are rapidly being incorporated into clinical practice. These data have implications for patient consent and safety, and workforce training and practice.
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