Cell-Free DNA Analysis in Maternal Plasma in Cases of Fetal Abnormalities Detected on Ultrasound Examination

Benachi, Alexandra; Letourneau, Alexandra; Kleinfinger, Pascale; Sénat, Marie-Victoire; Gautier, E; Favre, R.; Bidat, Laurent; Houfflin‐Debarge, V.; Bouyer, Jean; Costa, Jean‐Marc

doi:10.1097/aog.0000000000000874

Cited by 66 publications

(53 citation statements)

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“…The test performance was similar in the 2 laboratories -mainly so for trisomy 21, since there was no falsenegative result in either laboratory for trisomy 21, which is consistent with the very high performance of cfDNA testing in the detection of trisomy 21 at both laboratories in high-and low-risk populations [4][5][6][7][8][9]21]. The detection rates for trisomy 18/13 were also high, as reported previously [8,29,30], but the numbers were too small to draw definitive conclusions.…”

Section: Performance Of the Cfdna Test In Each Laboratorysupporting

confidence: 69%

“…In another study involving 892 patients with 113 cases of trisomy 21, 18, or 13, Benachi et al [21] reported detection rates of 100% for trisomy 21 and 13 and 88% for trisomy 18. What is interesting in this study is that in 5 patients with abnormal results, the FF was < 4%; yet the Zscore was highly suggestive of aneuploidy, and therefore the results were confirmed by karyotyping.…”

Section: Performance Of the Cfdna Test In Each Laboratorymentioning

confidence: 99%

“…For the Cerba test, circulating cfDNA analysis was performed by GW-MPS as previously described [21]. The patients were recruited between November 2014 and February 2016 from various French fetal medicine centers after obtaining written informed consent.…”

Section: Methodsmentioning

confidence: 99%

“…Since 2011, cfDNA testing has been commercially available for screening for trisomies, and increasing evidence suggests that analysis of cfDNA in maternal blood can detect about 99.7% of cases of trisomy 21,97.9% of cases of trisomy 18, and 99.0% of cases of trisomy 13 at a combined FPR of 0.13% [4]. Such high-performance screening has been reported for both high-risk pregnancies and in the general population [4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

“…Such high-performance screening has been reported for both high-risk pregnancies and in the general population [4][5][6][7][8][9]. Beyond the major trisomies (21,18, and 13), cfDNA testing panels can be expanded to include sex chromosomal aneuploidies and microdeletion syndromes, but this would increase the cumulative FPR [10]. This is due to the low prevalence of some of these conditions -and, consequently, positive predictive values of less than 10% when tested [11].…”

Section: Introductionmentioning

confidence: 99%

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Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach

et al. 2018

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Objectives: To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. Methods: cfDNA testing was performed on 2,870 pregnancies with the Harmony^TM Prenatal Test using the targeted digital analysis of selected regions (DANSR) method, and on 2,635 pregnancies with the “Cerba test” using the genome-wide massively parallel sequencing (GW-MPS) method, with available outcomes. Propensity score analysis was used to match patients between the 2 groups. A comparison of the detection rates for trisomy 21 between the 2 laboratories was made. Results: In all, 2,811 patients in the Harmony group and 2,530 patients in the Cerba group had no trisomy 21, 18, or 13. Postmatched comparisons of the patient characteristics indicated a higher no-result rate in the Harmony group (1.30%) than in the Cerba group (0.75%; p = 0.039). All 41 cases of trisomy 21 in the Harmony group and 93 cases in the Cerba group were detected. Conclusions: Both methods of cfDNA testing showed low no-result rates and a comparable performance in detecting trisomy 21; yet GW-MPS had a slightly lower no-result rate than the DANSR method.

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Section: Performance Of the Cfdna Test In Each Laboratorysupporting

confidence: 69%

Section: Performance Of the Cfdna Test In Each Laboratorymentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach

et al. 2018

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2017

Cochrane Database of Systematic Reviews

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These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants.

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Noninvasive Screening for Aneuploidy Using Cell‐Free Placental DNA

Dugoff

2021

Genetic Disorders and the Fetus

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Cell-Free DNA Analysis in Maternal Plasma in Cases of Fetal Abnormalities Detected on Ultrasound Examination

Abstract: III.

Cited by 66 publications

References 16 publications

Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach

Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Noninvasive Screening for Aneuploidy Using Cell‐Free Placental DNA

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