Prenatal diagnosis of fetuses with region of homozygosity detected by a single nucleotide polymorphism array: a retrospective cohort study

  • Kearney HM, Kearney JB, Conlin LK. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: inbreeding, uniparental disomy and single gene recessive mutations. Clin Lab Med. 2011;31:595–613.

    Google Scholar article

  • Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, ACMG Laboratory Quality Assurance Committee. Diagnostic tests for uniparental disomy: a statement of considerations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:1133–41.

    Google Scholar article

  • Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. American College of Medical Genetics and Genomics: Standards and Guidelines for Documenting Suspected Inbreeding as an Incidental Finding from Genomic Testing. Genet Med: Off J Am Coll Med Genet. 2013;15:150–2.

    Google Scholar article

  • Niida Y, Ozaki M, Shimizu M, Ueno K, Tanaka T. Classification of uniparental isodisomy patterns that cause autosomal recessive disorders: proposed mechanisms of different proportions and parental origin in each pattern. Cytogenetic Genome Res. 2018;154:137–46.

    Google Scholar article

  • Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, et al. Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth retardation, hypospadias and oligohydramnios. Prenat Diagn. 1997;17:443–50.

    CAS Google Scholar Article

  • Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, et al. Maternal uniparental chromosome 16 disomy [upd(16)mat]: the clinical features are rather caused by the (hidden) mosaicism of trisomy 16 than by the upd(16)mat itself. Clin Genet. 2017;92:45–51.

    CAS Google Scholar Article

  • Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, et al. Uniparental disomy as a mechanism of human genetic disease. Am J Hum Genet. 1988;42:217–26.

    CAS PubMed PubMed Central Google Scholar

  • Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, et al. Diagnostic application of a capture-based NGS assay for the simultaneous detection of sequence and copy number variants as well as LOH. Clin Genet. 2018;93:545–56.

    CAS Google Scholar Article

  • Guo T, Tan ZP, Chen HM, Zheng DY, Liu L, Huang XG, et al. An effective combination of whole exome sequencing and homozygosity sequences for the diagnosis of primary ciliary dyskinesia in consanguineous families. Sci Rep. 2017;7:7905.

    Google Scholar article

  • Xiao B, Wang L, Liu H, Fan Y, Xu Y, Sun Y, et al. Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows simultaneous detection of homogeneous variants and loss of copy-neutral heterozygosity. Mol Genet Genomic Med. 2019;7:e00945.

    Google Scholar article

  • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST, American College of Medical Genetics Laboratory Quality Assurance Committee Task Force. American College of Medical Genetics Standards and Guidelines for the Interpretation and Reporting of Postnatal Constitutional Copy Number Variants. Genet Med. 2011;13:680–5.

    Google Scholar article

  • Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22:245–57.

    Google Scholar article

  • Schroeder C, Sturm M, Dufke A, Mau-Holzmann U, Eggermann T, Poths S, et al. UPDtool: a tool for detecting iso- and heterodisomy in parent-child trios using SNP chips. Bioinformatics. 2013;29:1562–4.

    CAS Google Scholar Article

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and Guidelines for Sequence Variant Interpretation: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–23.

    Google Scholar article

  • McQuillan R, Leutenegger AL, Abdel-Rahman R, Franklin CS, Pericic M, Barac-Lauc L, et al. Homozygosity cycles in European populations. Am J Hum Genet. 2008;83:359–72.

    CAS Google Scholar Article

  • Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E. Patterns of homozygosity in patients with uniparental disomy: detection rates and suggested reporting thresholds for SNP microarrays. Genet Med. 2018;20:1522–7.

    CAS Google Scholar Article

  • Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, et al. Molecular and clinical analyzes of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome of unknown etiology phenotype. J Med Genet. 2019;56:413–8.

    Google Scholar article

  • Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: updated phenotypes and bibliography. Am J Med Genet A. 2005;136:287–305.

    Google Scholar article

  • Eggermann T. Prenatal detection of uniparental disomy (UPD): intentional and incidental discovery in the era of next-generation genomics. Genes (Basel). 2020;11:1454.

    CAS Google Scholar Article

  • Nakka P, Pattillo Smith S, O’Donnell-Luria AH, McManus KF. 23andMe Research Team, Mountain JL, et al. Characterization of the prevalence and health consequences of uniparental disomy in four million individuals in the general population. Am J Hum Genet. 2019;105:921–32.

    CAS Google Scholar Article

  • Matsubara K, Murakami N, Nagai T, Ogata T. Effect of maternal age on the development of Prader-Willi syndrome resulting from upd(15)mat errors by meiosis 1. J Hum Genet. 2011;56:566–71.

    Google Scholar article

  • Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, et al. Somatic segregation errors mainly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy of chromosome 15. Clin Genet. 2000;57:349–58.

    CAS Google Scholar Article

  • Bittles A. Inbreeding and its relevance to clinical genetics. Clin Genet. 2001;60:89–98.

    CAS Google Scholar Article

  • Yingjun X, Zhiyang H, Linhua L, Fangming S, Linhuan H, Jinfeng T. Chromosomal 16 uniparental disomy and fetal intrauterine growth restriction. Eur J Obstet Gynecol Reprod Biol. 2017;211:1–7.

    Google Scholar article

  • Kotzot D. Prenatal screening for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2008;31:100–5.

    CAS Google Scholar Article

  • Wilkins-Haug L, Quade B, Morton CC. Confined placental mosaicism as a risk factor in neonates with fetal growth restriction. Prenat Diagn. 2006;26:428–32.

    Google Scholar article

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