Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019;393:747\u201357.<\/p>\n
CAS<\/a>\u00a0 Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019;393:758\u201367.<\/p>\n CAS<\/a>\u00a0 Diderich KEM, Bruggenwirth HT, Joosten M, Thurik F, Mijalkovic J, Polak M, et al. The high diagnostic yield of prenatal exome sequencing followed by 3400 gene panel analysis in 629 ongoing pregnancies with ultrasound anomalies. Prenat Diagn. 2024;44:1444\u201350.<\/p>\n CAS<\/a>\u00a0 de Koning MA, Haak MC, Adama van Scheltema PN, Peeters-Scholte C, Koopmann TT, Nibbeling EAR, et al. From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care. Genet Med. 2019;21:2303\u201310.<\/p>\n PubMed<\/a>\u00a0 Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Marchionni E, Traversa A, Pizzuti A. Molecular approaches in fetal malformations, dynamic anomalies and soft markers: diagnostic rates and challenges-systematic review of the literature and meta-analysis. Diagnostics. 2022;23;12:575.<\/p>\n Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn. 2022;42:796\u2013803.<\/p>\n PubMed<\/a>\u00a0 Committee Opinion No. 693: Counseling About Genetic Testing and Communication of Genetic Test Results. Obstet Gynecol. 2017;129:e96-e101.<\/p>\n Committee Opinion No.682: Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol. 2016;128:e262-e268.<\/p>\n Klapwijk JE, Srebniak MI, Go A, Govaerts LCP, Lewis C, Hammond J, et al. How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies. Clin Genet. 2021;100:647\u201358.<\/p>\n CAS<\/a>\u00a0 Harding E, Hammond J, Chitty LS, Hill M, Lewis C. Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: a mixed-methods systematic review. Prenat Diagn. 2020;40:1028\u201339.<\/p>\n PubMed<\/a>\u00a0 Lewis C, Hammond J, Klapwijk JE, Harding E, Lou S, Vogel I, et al. Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals. Prenat Diagn. 2021;41:720\u201332.<\/p>\n PubMed<\/a>\u00a0 Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, et al. The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis. Eur J Med Genet. 2023;66:104844.<\/p>\n CAS<\/a>\u00a0 Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.<\/p>\n PubMed<\/a>\u00a0 Shi P, Liang H, Hou Y, Chen D, Ren H, Wang C, et al. The uncertainty of copy number variants: pregnancy decisions and clinical follow-up. Am J Obstet Gynecol. 2023;229:170.e1\u2013e8.<\/p>\n CAS<\/a>\u00a0 Zhou Q, Chu PH, Huang C, Cheng CF, Martone ME, Knoll G, et al. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol. 2001;155:605\u201312.<\/p>\n CAS<\/a>\u00a0 Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, et al. Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. Eur J Hum Genet. 2023;31:97\u2013104.<\/p>\n CAS<\/a>\u00a0 Urquhart JE, Beaman G, Byers H, Roberts NA, Chervinsky E, O\u2019Sullivan J, et al. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clin Genet. 2016;89:724\u20137.<\/p>\n CAS<\/a>\u00a0 Wei W, Li B, Li F, Sun K, Jiang X, Xu R. Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect. Clin Genet. 2020;97:576\u201385.<\/p>\n CAS<\/a>\u00a0 Tuzovic L, Yu L, Zeng W, Li X, Lu H, Lu HM, et al. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare Dis. 2013;1:e26144.<\/p>\n PubMed<\/a>\u00a0 Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36:928\u201330.<\/p>\n PubMed<\/a>\u00a0 Durkie M, Cassidy E, Berry I, Owens M, Turnbull C, Scott RH, et al. ACGS Best Practice Guidelines for Variant Classification in Rare Disease: Association for Clinical Genomic Science; 2024 [updated 20 February 2024. Available from: https:\/\/www.acgs.uk.com\/media\/11631\/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf<\/a>.<\/p>\n Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, et al. Using the ACMG\/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023;110:1046\u201367.<\/p>\n CAS<\/a>\u00a0 Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, et al. Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion. Hum Mutat. 2018;39:1517\u201324.<\/p>\n PubMed<\/a>\u00a0 Landrum MJ, Chitipiralla S, Kaur K, Brown G, Chen C, Hart J, et al. ClinVar: updates to support classifications of both germline and somatic variants. Nucleic Acids Res. 2025;53:D1313\u2013d21.<\/p>\n PubMed<\/a>\u00a0 Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. ClinGen-tHE CLINICAL GENOME REsource. N Engl J Med. 2015;372:2235\u201342.<\/p>\n CAS<\/a>\u00a0 Basel-Salmon L, Sukenik-Halevy R. Challenges in variant interpretation in prenatal exome sequencing. Eur J Med Genet. 2022;65:104410.<\/p>\n CAS<\/a>\u00a0 Group CSVIW. SVI Recommendation for De Novo Criteria (PS2 & PM6) – Version 1.1 2021 [Available from: https:\/\/clinicalgenome.org\/site\/assets\/files\/3461\/svi_proposal_for_de_novo_criteria_v1_1.pdf<\/a>.<\/p>\n Hammond J, Klapwijk JE, Riedijk S, Lou S, Ormond KE, Vogel I, et al. Assessing women\u2019s preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design. PLoS ONE. 2022;17:e0261898.<\/p>\n CAS<\/a>\u00a0 Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women\u2019s experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013;15:139\u201345.<\/p>\n PubMed<\/a>\u00a0 Talati AN, Gilmore KL, Hardisty EE, Lyerly AD, Rini C, Vora NL. Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis. Prenat Diagn. 2022;42:775\u201382.<\/p>\n CAS<\/a>\u00a0 Watts G, Newson AJ. To offer or request? Disclosing variants of uncertain significance in prenatal testing. Bioethics. 2021;35:900\u20139.<\/p>\n PubMed<\/a>\u00a0 Hui L, Szepe E, Halliday J, Lewis C. Maternity health care professionals\u2019 views and experiences of fetal genomic uncertainty: a review. Prenat Diagn. 2020;40:652\u201360.<\/p>\n PubMed<\/a>\u00a0 Horn R, Parker M. Opening Pandora\u2019s box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2018;38:20\u20135.<\/p>\n CAS<\/a>\u00a0 Cohen JL, Duyzend M, Adelson SM, Yeo J, Fleming M, Ganetzky R, et al. Advancing precision care in pregnancy through an actionable fetal findings list. medRxiv. 2024:2024.09.26.24314442.<\/p>\n","protected":false},"excerpt":{"rendered":"Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. 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