Cell‐free DNA testing: inadequate implementation of an outstanding technique

Borrell, Antoni; Stergiotou, Iosifina

doi:10.1002/uog.14795

Cited by 15 publications

(14 citation statements)

References 36 publications

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“…There has been concern that screening for microdeletions could lead to a substantial increase in positive calls 28 . In our study, the observed positive-call rate was less than 0.5% and the PPV was 18.0%.…”

Section: Discussionmentioning

confidence: 99%

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Gross

Stosic

McDonald‐McGinn

et al. 2016

Ultrasound Obstet Gynecol

110

129

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ObjectivesTo evaluate the performance of a single‐nucleotide polymorphism (SNP)‐based non‐invasive prenatal test (NIPT) for the detection of fetal 22q11.2 deletion syndrome in clinical practice, assess clinical follow‐up and review patient choices for women with high‐risk results.MethodsIn this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a SNP‐based NIPT and subsequently evaluated. Follow‐up was conducted for all cases with a high‐risk result.ResultsNinety‐five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (PPV) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high‐risk cases: 57.1% (48/84) had invasive testing and 42.9% (36/84) did not. Ultrasound anomalies were present in 81.8% of true‐positive and 18.0% of false‐positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing.ConclusionsClinical experience with this SNP‐based non‐invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high‐risk pregnancies. © 2015 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

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Section: Discussionmentioning

confidence: 99%

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Gross

Stosic

McDonald‐McGinn

et al. 2016

Ultrasound Obstet Gynecol

110

129

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“…estimated values for the less common trisomy 18 and trisomy 13 at 64% and 44%, respectively, compared to 94% for trisomy 21. As Borrell and Stergiotou (2015) stated, some referring physicians may think that NIPT is a diagnostic test and they may not realise they also need take into account that the positive predictive value may vary strongly for individual women27. Some authors1217 suggest that, at minimum, the a priori risk should be incorporated in assessing a NIPT result.…”

Section: Discussionmentioning

confidence: 99%

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

Sikkema‐Raddatz

Johansson

Boer

et al. 2016

Sci Rep

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To properly interpret the result of a pregnant woman’s non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known. We tested the tool on 209 samples from pregnant women undergoing NIPT. For Z-scores < 5, the PPR is considerably higher at a high a priori risk than at a low a priori risk, for NIPT results with the same Z-score, foetal DNA percentage and coefficient of variation. However, the PPR is effectively independent under all conditions for Z-scores above 6. A high PPR for low a priori risks can only be reached at Z-scores > 5. Our online tool can assist clinicians in understanding NIPT results and conveying their true clinical implication to pregnant women, because the PPR is crucial for individual counselling and decision-making.

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“…5,[8][9][10][11][12][13][14][15][16] Invasive diagnostic testing, either chorionic villus sampling (CVS) or amniocentesis, is thus recommended after a positive cfDNA fetal aneuploidy screen. 17 Because cfDNA testing is frequently performed in the first trimester, CVS is often the invasive procedure method utilized so that an early definitive diagnosis can be achieved. Of note, if mosaicism is identified on CVS, confirmatory amniocentesis is recommended due to the possibility of discordance based on CPM, as described above.…”

Section: Introductionmentioning

confidence: 99%

The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

Grati¹,

Bajaj

Malvestiti³

et al. 2015

Prenatal Diagnosis

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Cell‐free DNA testing: inadequate implementation of an outstanding technique

Cited by 15 publications

References 36 publications

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

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