Genetics | Prenatal Genome-Vast Sequencing evaluation (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic evaluation and meta-analysis
Barbitoff YA, Polev DE, Glotov AS, Serebryakova EA, Shcherbakova IV, Kiselev AM, et al. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals main determinants of coding sequence protection. Sci Rep. 2020;10:2057. https://doi.org/10.1038/s41598-020-59026-y.
Google Scholar
Liu P, Vossaert L. Rising applied sciences for prenatal analysis: the applying of entire genome and RNA sequencing. Prenat Diagn. 2022;42:686–96. https://doi.org/10.1002/pd.6146.
Google Scholar
Manickam Ok, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, et al. Exome and genome sequencing for pediatric sufferers with congenital anomalies or mental incapacity: an evidence-based scientific guideline of the American School of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029–37. https://doi.org/10.1038/s41436-021-01242-6.
Google Scholar
Guadagnolo D, Mastromoro G, Di Palma F, Pizzuti A, Marchionni E. Prenatal exome sequencing: background, present apply and future perspectives-a systematic evaluation. Diagnostics. 2021;11:224. https://doi.org/10.3390/diagnostics11020224.
Google Scholar
Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS, ISPD Board of Administrators. Worldwide Society for Prenatal Prognosis Up to date Place Assertion on using genome-wide sequencing for prenatal analysis. Prenat Diagn. 2022;42:796–803. https://doi.org/10.1002/pd.6157.
Google Scholar
Wang Y, Greenfeld E, Watkins N, Belesiotis P, Zaidi SH, Marshall C, et al. Diagnostic yield of genome sequencing for prenatal analysis of fetal structural anomalies. Prenat Diagn. 2022;42:822–30. https://doi.org/10.1002/pd.6108.
Google Scholar
Web page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 assertion: an up to date guideline for reporting systematic critiques. BMJ. 2021;372:n71. https://doi.org/10.1136/bmj.n71.
Google Scholar
Munn Z, Barker TH, Moola S, Tufanaru C, Stern C, McArthur A, et al. Methodological high quality of case collection research: an introduction to the JBI crucial appraisal device. JBI Evid Synth. 2020;18:2127–33. https://doi.org/10.11124/JBISRIR-D-19-00099.
Google Scholar
Yaron Y, Ofen Glassner V, Mory A, Zunz Henig N, Kurolap A, Bar Shira A, et al. Exome sequencing as first-tier check for fetuses with extreme central nervous system structural anomalies. Ultrasound Obstet Gynecol. 2022;60:59–67. https://doi.org/10.1002/uog.24885.
Google Scholar
Lei TY, She Q, Fu F, Zhen L, Li R, Yu QX, et al. Prenatal exome sequencing in fetuses with callosal anomalies. Prenat Diagn. 2022;42:744–52. https://doi.org/10.1002/pd.6107.
Google Scholar
de Koning MA, Hoffer MJV, Nibbeling EAR, Bijlsma EK, Toirkens MJP, Adama-Scheltema PN, et al. Prenatal exome sequencing: a great tool for the fetal neurologist. Clin Genet. 2022;101:65–77. https://doi.org/10.1111/cge.14070.
Google Scholar
She Q, Tang E, Peng C, Wang L, Wang D, Tan W. Prenatal genetic testing in 19 fetuses with corpus callosum abnormality. J Clin Lab Anal. 2021;35:e23971. https://doi.org/10.1002/jcla.23971.
Google Scholar
Heide S, Spentchian M, Valence S, Buratti J, Mach C, Lejeune E, et al. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to additional diagnostic delineation. Genet Med. 2020;22:1887–91. https://doi.org/10.1038/s41436-020-0872-8.
Google Scholar
Tan H, Xie Y, Chen F, Chen M, Yu L, Chen D, et al. Novel and recurrent variants recognized in fetuses with central nervous system abnormalities by trios-medical exome sequencing. Clin Chim Acta. 2020;510:599–604. https://doi.org/10.1016/j.cca.2020.08.018.
Google Scholar
Li L, Fu F, Li R, Xiao W, Yu Q, Wang D, et al. Genetic checks assist in counseling of fetuses with cerebellar vermis defects. Prenat Diagn. 2020;40:1228–38. https://doi.org/10.1002/pd.5732.
Google Scholar
Weitensteiner V, Zhang R, Bungenberg J, Marks M, Gehlen J, Ralser DJ, et al. Exome sequencing in syndromic mind malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a brand new candidate gene. Start Defects Res. 2018;110:587–97. https://doi.org/10.1002/bdr2.1200.
Google Scholar
Reches A, Hiersch L, Simchoni S, Barel D, Greenberg R, Ben Sira L, et al. Entire-exome sequencing in fetuses with central nervous system abnormalities. J Perinatol. 2018;38:1301–8. https://doi.org/10.1038/s41372-018-0199-3.
Google Scholar
Poirier Ok, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, et al. Uncommon ACTG1 variants in fetal microlissencephaly. Eur J Med Genet. 2015;58:416–8. https://doi.org/10.1016/j.ejmg.2015.06.006.
Google Scholar
Liao Y, Yang Y, Wen H, Wang B, Zhang T, Li S. Irregular Sylvian fissure at 20–30 weeks as indicator of malformations of cortical improvement: position of prenatal whole-genome sequencing. Ultrasound Obstet Gynecol. 2022;59:552–5. https://doi.org/10.1002/uog.24771.
Google Scholar
Yang Y, Zhao S, Solar G, Chen F, Zhang T, Track J, et al. Genomic structure of fetal central nervous system anomalies utilizing whole-genome sequencing. NPJ Genom Med. 2022;7:31 https://doi.org/10.1038/s41525-022-00301-4. Printed 2022 Might 13.
Google Scholar
Baujat B, Mahé C, Pignon JP, Hill C. A graphical methodology for exploring heterogeneity in meta-analyses: utility to a meta-analysis of 65 trials. Stat Med. 2002;21:2641–52. https://doi.org/10.1002/sim.1221.
Google Scholar
Balduzzi S, Rücker G, Schwarzer G. Easy methods to carry out a meta-analysis with R: a sensible tutorial. Evid Based mostly Ment Well being. 2019;22:153–60. https://doi.org/10.1136/ebmental-2019-300117.
Google Scholar
Harrer M, Cuijpers, Furukawa T, Ebert DD. Dmetar: Companion R bundle for the information “Doing Meta-Evaluation in R”. R bundle model 0.0.9000. 2019. http://dmetar.protectlab.org/.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing evaluation in fetal structural anomalies detected by ultrasonography (PAGE): a cohort examine. Lancet. 2019;393:747–57. https://doi.org/10.1016/S0140-6736(18)31940-8.
Google Scholar
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou Ok, Bier L, et al. Entire-exome sequencing within the analysis of fetal structural anomalies: a potential cohort examine. Lancet. 2019;393:758–67. https://doi.org/10.1016/S0140-6736(18)32042-7.
Google Scholar
Mellis R, Oprych Ok, Scotchman E, Hill M, Chitty LS. Diagnostic yield of exome sequencing for prenatal analysis of fetal structural anomalies: a scientific evaluation and meta-analysis. Prenat Diagn. 2022;42:662–85. https://doi.org/10.1002/pd.6115.
Google Scholar
Worldwide Society for Prenatal Prognosis; Society for Maternal and Fetal Medication; Perinatal High quality Basis. Joint Place Assertion from the Worldwide Society for Prenatal Prognosis (ISPD), the Society for Maternal Fetal Medication (SMFM), and the Perinatal High quality Basis (PQF) on using genome-wide sequencing for fetal analysis. Prenat Diagn. 2018;38:6–9. https://doi.org/10.1002/pd.5195.
Google Scholar
Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC, ACMG Skilled Observe and Tips Committee. Using fetal exome sequencing in prenatal analysis: a factors to contemplate doc of the American School of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:675–80. https://doi.org/10.1038/s41436-019-0731-7.
Google Scholar
Mustafa HJ, Barbera JP, Sambatur EV, Pagani G, Yaron Y, Baptiste CD, et al. Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: a scientific evaluation and meta-analysis. Ultrasound Obstet Gynecol. 2023. https://doi.org/10.1002/uog.27440.
Hart AR, Vasudevan C, Griffiths PD, Foulds N, Piercy H, de Lacy P, et al. Antenatal counselling for potential dad and mom whose fetus has a neurological anomaly: half 2, dangers of opposed final result in frequent anomalies. Dev Med Baby Neurol. 2022;64:23–39. https://doi.org/10.1111/dmcn.15043.
Google Scholar
Mone F, Abu Subieh H, Doyle S, Hamilton S, Mcmullan DJ, Allen S, et al. Evolving fetal phenotypes and scientific impression of progressive prenatal exome sequencing pathways: cohort examine. Ultrasound Obstet Gynecol. 2022;59:723–30. https://doi.org/10.1002/uog.24842.
Google Scholar
Giordano JL, Wapner RJ. The fetal sequencing consortium: the worth of multidisciplinary dialog and collaboration. Prenat Diagn. 2022;42:807–10. https://doi.org/10.1002/pd.6190.
Google Scholar
Chandler NJ, Scotchman E, Mellis R, Ramachandran V, Roberts R, Chitty LS. Classes learnt from prenatal exome sequencing. Prenat Diagn. 2022;42:831–44. https://doi.org/10.1002/pd.6165.
Google Scholar
Miller DT, Lee Ok, Abul-Husn NS, Amendola LM, Brothers Ok, Chung WK, et al. ACMG SF v3.2 checklist for reporting of secondary findings in scientific exome and genome sequencing: a coverage assertion of the American School of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100866. https://doi.org/10.1016/j.gim.2023.100866.
Google Scholar
Brew CE, Castro BA, Pan V, Hart A, Blumberg B, Wicklund C. Genetics professionals’ attitudes towards prenatal exome sequencing. J Genet Couns. 2019;28:229–39. https://doi.org/10.1002/jgc4.1112.
Google Scholar
Vaknin N, Azoulay N, Tsur E, Tripolszki Ok, Urzi A, Rolfs A, et al. Excessive fee of irregular findings in Prenatal Exome Trio in low danger pregnancies and apparently regular fetuses. Prenat Diagn. 2022;42:725–35. https://doi.org/10.1002/pd.6077.
Google Scholar
Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang KYC, et al. Low-pass genome sequencing versus chromosomal microarray evaluation: implementation in prenatal analysis. Genet Med. 2020;22:500–10. https://doi.org/10.1038/s41436-019-0634-7.
Google Scholar
Stranneheim H, Lagerstedt-Robinson Ok, Magnusson M, Kvarnung M, Nilsson D, Lesko N, et al. Integration of entire genome sequencing right into a healthcare setting: excessive diagnostic charges throughout a number of scientific entities in 3219 uncommon illness sufferers. Genome Med 2021;13:40. https://doi.org/10.1186/s13073-021-00855-5.
Google Scholar
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