Emerging issues in invasive prenatal diagnosis: Safety and competency in the post‐NIPT era

Abstract

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.

Prenatal diagnostic testing and atypical chromosome abnormalities following combined first‐trimester screening: implications for contingent models of non‐invasive prenatal testing

“…Finally, those women that have diagnostic testing are now likely to have fetal chromosome analysis using CMA. CMA made up 75% of all prenatal tests in Victoria in 2014–2015 13 and at least 50% of subspecialists now order CMA routinely for all diagnostic testing. The prevalence of pathogenic CNVs in our total diagnostic cohort of 2.1% (47/2226) is similar to the 2.2% reported by Vogel et al .…”

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

“…A recent decision‐analysis modeling study concluded that offering NIPT to the high‐risk population would reduce the number of invasive procedures by 72%, and NIPT for the general population a reduction of 60% 25. An important consequence is the rapidly declining experience of clinicians in performing invasive procedures 1, 26. Quality assurance and training programs need to be adapted, and more centralized care seems unavoidable.…”

“…25 An important consequence is the rapidly declining experience of clinicians in performing invasive procedures. 1,26 Quality assurance and training programs need to be adapted, and more centralized care seems unavoidable.…”

How to safeguard competency and training in invasive prenatal diagnosis: ‘the elephant in the room’

“…However, the impact of cfDNA screening has meant that even a modest target of 25-30 procedures per annum may not be achievable for all current practitioners. In a recent survey of Australian obstetric sonologists, one in four (25%) respondents reported that they are currently performing < 25 procedures in total per annum 21 . In this survey, the majority suggested 10-25 amniocenteses and 10-25 CVS per year as sufficient to maintain their skills, which is consistent with the total numbers recommended by USA and UK bodies.…”