Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

Оленев, А.С.; Баранова, Е. Е.; Sagaydak, Olesya V.; Galaktionova, A.M.; Kuznetsova, E.S.; Kaplanova, Madina T.; Belenikin, Maxim S.; Songolova, E.N.

doi:10.15275/rusomj.2021.0110

Cited by 8 publications

(8 citation statements)

References 42 publications

(34 reference statements)

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“…The study selection process is shown in Figure 1. Authors were contacted for seven articles with incomplete data; data were obtained for one 38 and six were excluded 84–89 …”

Section: Resultsmentioning

confidence: 99%

“…Authors were contacted for seven articles with incomplete data; data were obtained for one 38 and six were excluded. [84][85][86][87][88][89] Included studies were published between 2015 and 2022. Across all included studies, 1 591 459 women underwent cfDNA screening for CNVs, with 5481 receiving a high-risk result (screen-positive rate of 0.34%).…”

Section: Study Characteristicsmentioning

confidence: 99%

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The accuracy of cell‐free DNA screening for fetal segmental copy number variants: A systematic review and meta‐analysis

Raymond

Acreman

Bussolaro

et al. 2023

BJOG

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Background The performance of cell‐free DNA (cfDNA) screening for microscopic copy number variants (CNVs) is unclear. Objectives This was a systematic review and meta‐analysis to investigate the sensitivity, specificity and positive predictive value (PPV) of cfDNA screening for CNVs. Search Strategy Articles published in EMBASE, PubMed or Web of Science before November 2022 were screened for inclusion. This protocol was registered with PROSPERO (23 March 2021, CRD42021250849) prior to initiation. Selection Criteria Articles published in English, detailing diagnostic outcomes for at least 10 high‐risk CNV results with cfDNA were considered for inclusion. Data Collection and Analysis The PPV was calculated and pooled with random‐effects models for double‐arcsine transformed proportions, using cases with diagnostic confirmation. Overall sensitivity, specificity and a summary receiver‐operating characteristics (ROC) curve were calculated using bivariate models. The risk of bias was assessed using QUADAS‐2. Main Results In all, 63 articles were included in the final analysis, detailing 1 591 459 cfDNA results. The pooled PPV was 37.5% (95% confidence interval [CI] 30.6–44.8), with substantial statistical heterogeneity (I2 = 93.9%). Bivariate meta‐analysis estimated sensitivity and specificity to be 77.4% (95% CI 65.7–86.0) and 99.4% (95% CI 98.0–99.8), respectively, with an area under the summary ROC curve of 0.947 (95% CI 0.776–0.984). Conclusions Approximately one‐third of women who screen high‐risk for CNVs with cfDNA will have an affected fetus. This value is of importance for screening counselling.

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“…The study selection process is shown in Figure 1. Authors were contacted for seven articles with incomplete data; data were obtained for one 38 and six were excluded 84–89 …”

Section: Resultsmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

The accuracy of cell‐free DNA screening for fetal segmental copy number variants: A systematic review and meta‐analysis

Raymond

Acreman

Bussolaro

et al. 2023

BJOG

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“…Statistical analysis was performed as described earlier [ 15 ]. The statistical software package Wizard 2 Version 2.0.4 (250) was used for data analyses.…”

Section: Methodsmentioning

confidence: 99%

“…The aim of the study was to assess the efficiency of NIPT as a second-line first trimester screening test in Moscow. Preliminary results were published before [ 15 ]. The project is finished now, and its first results are presented.…”

Section: Introductionmentioning

confidence: 99%

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies

Баранова

Sagaydak²,

Galaktionova³

et al. 2022

BMC Pregnancy Childbirth

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Background A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study—to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow. Methods Based on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 – 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic. Results 258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p < 0.05) were revealed for fetal fraction (FF) and both for some patient’s (body mass index and weight) and fetus’s (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%. Conclusions NIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.

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“…The aim of the study was to assess e ciency of using NIPT as a second-line rst trimester screening test in Moscow. Preliminary results were published before [15]. The project is nished now, and its rst results are presented.…”

Section: Introductionmentioning

confidence: 99%

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12700 pregnancies

Баранова¹,

Sagaydak²,

Galaktionova³

et al. 2022

Preprint

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BackgroundA fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. The aim of the study - to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.MethodsBased on the results of the first trimester combined prenatal screening 12700 pregnant women were classified as a high-risk (cut-off ≥1:100) and an intermediate-risk (cut-off 1:101 – 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results were considered for invasive prenatal diagnostic. Results258 (2,0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p<0.05) were revealed for fetal fraction (FF) and both for some patient’s (body mass index and weight) and fetus’s characteristics (sex and high risk of aneuploidies). NIPT showed high sensitivity and specificity for common trisomies and SCAs with an overall false positive rate 0.3%.ConclusionsNIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women.

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Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results

Cited by 8 publications

References 42 publications

The accuracy of cell‐free DNA screening for fetal segmental copy number variants: A systematic review and meta‐analysis

The accuracy of cell‐free DNA screening for fetal segmental copy number variants: A systematic review and meta‐analysis

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12700 pregnancies

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