Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine

Flöck, A; Tu, Ngoc-Chi; Rüland, Anna; Holzgreve, Wolfgang; Gembruch, Ulrich; Geipel, A.

doi:10.1007/s00404-017-4517-3

Cited by 20 publications

(11 citation statements)

References 34 publications

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“…Another question concerns the possible target groups for NIPT, which is also relevant for Estonia. It has been shown that there is no significant difference in NIPT screening performance between high‐risk, routine and mixed populations . Therefore, the question arises what is the better way to implement NIPT into clinical practice and who are the main target groups for this testing.…”

Section: Discussionmentioning

confidence: 99%

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

et al. 2019

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Objective The study aimed to validate a whole‐genome sequencing‐based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software with the potential to integrate the pipeline into prenatal clinical care in Estonia. Method In total, 424 maternal blood samples were included. Analysis pipeline involved cell‐free DNA extraction, library preparation and massively parallel sequencing on Illumina platform. Aneuploidies were determined with NIPTmer software, which is based on counting pre‐defined per‐chromosome sets of unique k‐mers from sequencing raw data. SeqFF was implemented to estimate cell‐free fetal DNA (cffDNA) fraction. Results NIPTmer identified correctly all samples of non‐mosaic trisomy 21 (T21, 15/15), T18 (9/9), T13 (4/4) and monosomy X (4/4) cases, with the 100% sensitivity. However, one mosaic T18 remained undetected. Six false‐positive (FP) results were observed (FP rate of 1.5%, 6/398), including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). The level of cffDNA of <4% was estimated in eight samples, including one sample with T13 and T18. Despite low cffDNA level, these two samples were determined as aneuploid. Conclusion We believe that the developed NIPT method can successfully be used as a universal primary screening test in combination with ultrasound scan for the first trimester fetal examination.

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Section: Discussionmentioning

confidence: 99%

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

et al. 2019

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“…Along with the issue to what extent one should be tested, another question exists, regarding the possible target groups for NIPT, which is also relevant for Estonia. It was demonstrated that there is no significant difference in NIPT screening performance between highrisk, routine and mixed populations (30). Therefore, the question arises what is the better way to implement NIPT into clinical practice and who are the main target groups for this testing.…”

Section: Discussionmentioning

confidence: 99%

Creating basis for introducing NIPT in the Estonian public health setting

Žilina

Rekker

Kaplinski

et al. 2018

Preprint

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Objective:The study aimed to validate a whole-genome sequencing-based NIPT method and our newly developed NIPTmer analysis software with the potential to integrate the pipeline into prenatal clinical care in Estonia. Method:In total, 447 maternal blood samples were included to the study. Analysis pipeline involved whole-genome library preparation and massively parallel sequencing on Illumina NextSeq 500. Aneuploidy status was determined with NIPTmer software, which is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data. To estimate fetal fraction (FF) from total cell-free DNA SeqFF was implemented.Results: NIPTmer software allowed to identify correctly all samples of non-mosaic T21 (15/15), T18 (9/9) and T13 (4/4) cases. However, one mosaic T18 remained undetected. Six false positive results were observed, including three for T18 (specificity 99.3%) and three for T13 (specificity 99.3%). FF < 4% (2.8-3.99%) was estimated in eight samples, including two samples with T13 and T18. Despite low FF, these two samples were determined as aneuploid with NIPTmer software. Conclusion:Our NIPT analysis pipeline proved to perform efficiently in detecting common fetal aneuploidies T21, T18 and T13 and is feasible for implementation into clinical service in Estonia. clinical relevance. Presently, the

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“…After its identification in 1997, a rapid increase in the use of cell-free fetal DNA analysis led to an awareness of the need for further development and implementation. There have been many studies into the use of cfDNA in maternal blood for the detection of trisomies 21, 18, and 13 in groups at high risk of aneuploidies [4,7,8]. A recent study showed excellent results when predicting aneuploidy in twin cases [9].…”

Section: Introductionmentioning

confidence: 99%

Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases

et al. 2020

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The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. Materials and Methods: NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. Results: Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12 +1 (9 +3 to 27 +1) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. Conclusion: NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

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Non-invasive prenatal testing (NIPT): Europe’s first multicenter post-market clinical follow-up study validating the quality in clinical routine

Abstract: NIPT provides a very high quality for the fetal trisomies 21, 13 and 18 in clinical routine. The results support the recommendation that NIPT should be offered after genetic counseling and only in conjunction with a qualified ultrasound examination.

Cited by 20 publications

References 34 publications

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Creating basis for introducing NIPT in the Estonian public health setting

Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases

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