Early Sonographic Findings for Suspecting de novo Single-gene Mutation

Pooh, Ritsuko K.; Machida, Megumi; Nakamura, Takako; Matsuzawa, Nana; Chiyo, Hideaki

doi:10.5005/jp-journals-10009-1643

Cited by 1 publication

(2 citation statements)

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“…Eighteen studies used a clinical exome sequencing (CES) approach in some or all cases, which here we define as targeting either the sequencing or the analysis to Online Mendelian Inheritance in Man disease genes 14 ,. 32 , 41‐48 , 33‐40 Eight studies targeted ES analysis more tightly using phenotype‐specific gene panels, 7 , 12 , 15 , 49‐53 while the remainder took a whole ES approach 8 ,. 13 , 62‐71 , 54 , 72‐81 , 55 , 82‐88 , 56‐61 Where stated (15 studies), 7 , 8 , 74 , 75 , 78 , 82 , 84 , 15 , 29 , 36 , 52 , 53 , 55 , 62 , 73 the median turnaround time for ES was 20 days (range 4–141).…”

Section: Resultsmentioning

confidence: 99%

“…[29][30][31] Eighteen studies used a clinical exome sequencing (CES) approach in some or all cases, which here we define as targeting either the sequencing or the analysis to Online Mendelian Inheritance in Man disease genes. 14,32,[41][42][43][44][45][46][47][48][33][34][35][36][37][38][39][40] Eight studies targeted ES analysis more tightly using phenotypespecific gene panels, 7,12,15,[49][50][51][52][53] while the remainder took a whole ES approach. 8,13,[62][63][64][65][66][67][68][69][70][71]54,[72][73][74][75][76][77][78]…”

Section: Study Characteristicsmentioning

confidence: 99%

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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

et al. 2022

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Objectives: We conducted a systematic review and meta-analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal.Methods: Following electronic searches of four databases, we included studies with ≥10 structurally abnormal fetuses undergoing ES or whole genome sequencing. The incremental diagnostic yield of ES over CMA/karyotype was calculated and pooled in a meta-analysis. Sub-group analyses investigated effects of case selection and fetal phenotype on diagnostic yield. Results:We identified 72 reports from 66 studies, representing 4350 fetuses. The pooled incremental yield of ES was 31% (95% confidence interval (CI) 26%-36%, p < 0.0001). Diagnostic yield was significantly higher for cases pre-selected for likelihood of monogenic aetiology compared to unselected cases (42% vs. 15%, p < 0.0001). Diagnostic yield differed significantly between phenotypic sub-groups, ranging from 53% (95% CI 42%-63%, p < 0.0001) for isolated skeletal abnormalities, to 2% (95% CI 0%-5%, p = 0.04) for isolated increased nuchal translucency. Conclusion:Prenatal ES provides a diagnosis in an additional 31% of structurally abnormal fetuses when CMA/karyotype is non-diagnostic. The expected diagnostic yield depends on the body system(s) affected and can be optimised by pre-selection of cases following multi-disciplinary review to determine that a monogenic cause is likely. Key pointsWhat's already known about this topic? � Prenatal exome sequencing (ES) increases genetic diagnoses in fetuses with structural abnormalities and a normal karyotype and chromosomal microarray.� Published diagnostic yields from ES are varied and may be influenced by study size, case selection and fetal phenotype.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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