29
Views
0
CrossRef citations to date
0
Altmetric
Research Article

The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy

, , , , , , , , , , , , , , , , , , , , , , , , , & show all
Pages 79-87 | Received 10 Oct 2023, Accepted 23 Feb 2024, Published online: 04 Apr 2024

References

  • Whitworth M, Bricker L, Mullan C. Ultrasound for fetal assessment in early pregnancy. Cochrane Datab. Syst. Rev. 2015(7), Cd007058 (2015).
  • Doubilet PM. Ultrasound evaluation of the first trimester. Radiol. Clin. North Am. 52(6), 1191–1199 (2014).
  • Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Datab. Syst. Rev. 9(9), Cd003252 (2017).
  • Shaffer LG, Dabell MP, Fisher AJ et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat. Diagn. 32(10), 976–985 (2012).
  • Lo JO, Shaffer BL, Feist CD, Caughey AB. Chromosomal microarray analysis and prenatal diagnosis. Obstet. Gynecol. Surv. 69(10), 9 (2014).
  • Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am. J. Obstet. Gynecol. 215(4), B2–B9 (2016).
  • Martin CL, Kirkpatrick BE, Ledbetter DH. Copy number variants, aneuploidies, and human disease. Clin. Perinatol. 42(2), 227–242; vii (2015).
  • Zhao M, Wang Q, Wang Q, Peilin J, Zhao Z. Computational tools for CNV detection using NGS features and perspectives. Presented at: The Second Workshop on Data Mining of Next-Generation Sequencin in Conjunction with the 2012 IEEE International Conference on Bioinformatics and Biomedicine. Philadelphia, PA (2012).
  • Wang J, Chen L, Zhou C et al. Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing. Sci. Rep. 8(1), 8134 (2018).
  • Cai M, Lin N, Chen X et al. Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers. BMC Med. Genom. 14(1), 19 (2021).
  • Hu T, Tian T, Zhang Z et al. Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study. Am. J. Obstet. Gynecol. 224(5), 516.e511–516.e516 (2021).
  • Hu P, Wang Y, Sun R et al. Copy number variations with isolated fetal ventriculomegaly. Curr. Mol. Med. 17(2), 133–139 (2017).
  • Cai M, Huang H, Su L et al. Choroid plexus cysts: single nucleotide polymorphism array analysis of associated genetic anomalies and resulting obstetrical outcomes. Risk Manag. Healthc Policy 14, 2491–2497 (2021).
  • Singer A, Maya I, Koifman A et al. Microarray analysis in pregnancies with isolated echogenic bowel. Early Hum. Dev. 119, 25–28 (2018).
  • Gu YZ, Nisbet DL, Reidy KL, Palma-Dias R. Hypoplastic nasal bone: a potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray. Prenat. Diagn 39(2), 116–123 (2019).
  • He M, Zhang Z, Hu T, Liu S. Chromosomal microarray analysis for the detection of chromosome abnormalities in fetuses with echogenic intracardiac focus in women without high-risk factors. Medicine (Baltimore) 99(5), e19014 (2020).
  • Su J, Qin Z, Fu H et al. Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort. Ultrasound Obstet. Gynecol. 59(2), 226–233(2021).
  • An G, Lin Y, Xu LP et al. Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction. Mol. Cytogenet. 11, 33 (2018).
  • Angras K, Bailey AL, Singh KP, Young JA, Ross J. A retrospective review of copy number variants and ultrasound-detected soft markers. Mol.Genet. Med. 14(2), 1–4 (2020).
  • Lord J, Mcmullan DJ, Eberhardt RY et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 393(10173), 747–757 (2019).
  • Wang J, Chen L, Zhou C et al. Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing. Am. J. Obstet. Gynecol. 219(3), 287.e281–287.e218 (2018).
  • Scheinin I, Sie D, Bengtsson H et al. DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly. Genome Res. 24(12), 2022–2032 (2014).
  • Riggs ER, Andersen EF, Cherry AM 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. 22(2), 245–257 (2020).
  • Whitford W, Lehnert K, Snell RG, Jacobsen JC. Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data. J. Biomed. Inform 94, 103174 (2019).
  • Jang W, Kim Y, Han E et al. Chromosomal microarray analysis as a first-tier clinical diagnostic test in patients with developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies: a prospective multicenter study in Korea. Ann. Lab. Med. 39(3), 299–310 (2019).
  • Sun Y, Zhang P, Zhang N et al. Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities. Mol. Cytogenet 13, 2 (2020).
  • Brison N, Neofytou M, Dehaspe L et al. Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing. Prenat. Diagn. 38(4), 258–266 (2018).
  • Wapner RJ, Martin CL, Levy B et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367(23), 2175–2184 (2012).
  • Hu T, Tian T, Zhang Z et al. Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study. Am. J. Obstet. Gynecol. 224(5), 516.e511–516.e516 (2021).
  • Leite A, Pinto IP, Leijsten N et al. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. PLOS ONE 17(4), e0266493 (2022).
  • Du Y, Ren Y, Yan Y, Cao L. Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women. Acta Obstet. Gynecol. Scand 97(2), 180–186 (2018).
  • Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet. Gynecol. 41(3), 247–261 (2013).
  • Peng R, Zheng J, Xie HN, He M, Lin MF. Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis. Cardiovasc. Ultrasound 17(1), 8 (2019).
  • Toxværd ME, Garne E. Epidemiology of multiple congenital anomalies before and after implementation of a nationwide prenatal screening program in Denmark. Front. Pediatr. 9, 614864 (2021).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.