cfDNA prenatal screening for Cri-Du-Chat, Prader-Willi/Angelman and 1p36del syndromes in 10,971 pregnancies with genetic confirmation

Dar, P.; MacPherson, Cora; Jacobsson, Bo; Egbert, Melissa; Malone, Fergal D.; Wapner, Ronald J.; Roman, Ashley S.; Khalil, Asma; Faro, Revital; Madankumar, Rajeevi; Edwards, Lance; Strong, Noel; Haeri, Sina; Silver, Robert M.; Vohra, Nidhi; Hyett, Jon; Clifton, Rebecca G.; Kao, Charlly; Martin, Kimberly; Demko, Zachary; Norton, Mary E.

doi:10.1016/j.ajog.2021.11.868

Cited by 1 publication

(6 citation statements)

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“…There was one predominate outlier which reported a sensitivity of 46.1%, although this study consisted exclusively of high-risk results for microdeletion syndromes other than 22q.11.2. 77 The specificity revealed in this metaanalysis was high, despite the presence of one outlier which reported a specificity of 87.5%. 75…”

Section: Discussionmentioning

confidence: 57%

“…In total, 7845 search results were identified, of which 1862 were duplicates. After screening the remaining 5983 results, 63 articles satisfied the inclusion criteria 12,14–16,18,26–83 . The study selection process is shown in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…Of the 63 included studies, PPV results were calculated from 59 (48 case‐series, 12,14–16,18,26–28,30,33–38,40–46,48,49,52–59,61–66,68–71,74,78–82 and 11 cohort studies 29,47,50,60,67,72,73,75–77,83 ). Sensitivity and specificity were reported from nine (four case‐controls, 31,32,39,51 five cohort studies with complete diagnostic confirmation 29,60,75–77 ).…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…Bivariate meta-analysis of sensitivity and specificity consisted of nine studies (four case-controls with 118 cases and 2551 controls, 31,32,39,51 five cohort studies with 32 322 women 29,60,[75][76][77] ), including six with predominately highrisk cohorts. 29,31,39,51,60,75 Individual estimates from these studies are presented in Figure S9.…”

Section: Sensitivity and Specificitymentioning

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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Section: Discussionmentioning

confidence: 57%

Section: Resultsmentioning

confidence: 99%