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

Hui, Lisa; Tabor, Ann; Walker, Susan P.; Kilby, Mark D.

doi:10.1002/uog.15806

Cited by 20 publications

(19 citation statements)

References 42 publications

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“…Similarly, in Victorian population‐based data, 2013 marked the lowest rate of diagnostic procedures in 25 years . These changes pose challenges for tertiary centres to maintain the procedural volume required for maintenance of skills and subspecialist training, with a recent survey of Australian obstetric sonologists suggesting that one in four are now performing less than 25 procedures a year . Although the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) does not specify a minimum annual number of invasive procedures for subspecialists, it does set targets for maternal foetal medicine (MFM) and obstetrical and gynaecological ultrasound (COGU) subspecialty trainees (100 amniocenteses and 50 CVS for MFM, and 100 each for COGU fellows over three years of accredited training)…”

Section: Introductionmentioning

confidence: 99%

Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Johnson

Kelley

Saxton

et al. 2017

Aust NZ J Obst Gynaeco

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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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Section: Introductionmentioning

confidence: 99%

Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Johnson

Kelley

Saxton

et al. 2017

Aust NZ J Obst Gynaeco

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“…Sequential improvements in aneuploidy screening test performance have, however, reduced the number of such referrals over the last 15 years, 7,8 and have been associated with a desirable increase in the diagnostic yield of invasive testing. 9,10 Early experience elsewhere would suggest that cfDNA screening has only continued this trend, 11,12 with significant implications for the training of future practitioners, 13 which was already difficult to deliver due to improvements in conventional aneuploidy screening. [14][15][16] This study aimed to quantify the impact of cfDNA screening on CVS testing in a high-throughput tertiary maternity service located in a jurisdiction with a high uptake of aneuploidy screening.…”

Section: Introductionmentioning

confidence: 99%

Chorionic villus sampling in the cell‐free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing

et al. 2017

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There is an evolving tension between improved screening performance for common aneuploidies offered by cfDNA testing, and the increasing diagnostic utility of molecular karyotyping. However, the risk of not identifying pathogenic chromosomal abnormalities is low if cfDNA screening is offered in the absence of a structural fetal anomaly, increased nuchal translucency or relevant family history. © 2017 John Wiley & Sons, Ltd.

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“…The field of prenatal genetics is experiencing rapid adoption of the new technology, and recent studies support expanding prenatal screening to pregnant women of all ages, regardless of their risk stratification. The improved sensitivity and specificity of cfDNA over conventional screening modalities has led to a decline in invasive procedures performed (61,62). As the offerings for cfDNA testing continue to expand, and the cost decreases, it is important that providers appreciate the inherent limitations of the technology and provide proper pretest and posttest counseling for their patients.…”

Section: Resultsmentioning

confidence: 99%

A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening

Dines

Eckel

Cheng

et al. 2018

The Journal of Applied Laboratory Medicine

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Background: Testing to determine the health of a fetus has undergone multiple iterations since the widespread adoption of amniocentesis in the 1970s, including several combinations of ultrasound and/or maternal serum screening. The clinical paradigm for prenatal screening for fetal chromosome aneuploidies was transformed by the introduction of cell-free DNA (cfDNA) screening or noninvasive prenatal screening in 2011. Content: The clinical performance of cfDNA screening is well-established for the most common autosomal and sex chromosome aneuploidies with a detection rate exceeding 90% for all aneuploidies. One of the most significant advantages of cfDNA screening relative to maternal serum screening is the markedly reduced false-positive rate, which is <0.5%. The clinical implementation of cfDNA screening is discussed at length, including key biological, preanalytical, and analytical factors that affect test performance. Summary: cfDNA prenatal screening for whole chromosome aneuploidies has become routine in high-risk obstetric populations. There is tremendous interest in expanding cfDNA screening to the general obstetric population. Early studies suggest that routine application of cfDNA screening is both feasible and effective, although significant economic and quality control considerations remain. IMPACT STATEMENTThe clinical paradigm for screening for fetal chromosomal aneuploidies has been transformed by cell-free DNA (cfDNA) prenatal screening, also called noninvasive prenatal testing. This method sequences DNA from maternal plasma, which contains a mixture of short maternal DNA fragments as well as placental DNA fragments that serve as a fetal surrogate. cfDNA prenatal screening was rapidly adopted in pregnancies at increased risk for trisomy 21, 18, or 13. Due to its low false positive rate, efficacy in the general obstetric population, and ability to detect additional cytogenetic abnormalities, cfDNA prenatal screening is anticipated to become routine in all pregnancies.

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

Cited by 20 publications

References 42 publications

Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015

Chorionic villus sampling in the cell‐free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing

A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening

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