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Chromosomal Microarray in Children Born Small for Gestational Age – Single Center Experience Cover

Chromosomal Microarray in Children Born Small for Gestational Age – Single Center Experience

Open Access
|Mar 2025

References

  1. Gordijn SJ, Beune IM, Thilaganathan B, et al. Consensus definition of fetal growth restriction: a Delphi procedure. Ultrasound Obstet Gynecol. 2016 Sep;48(3):333-9.
  2. Damhuis SE, Ganzevoort W, Gordijn SJ. Abnormal Fetal Growth: Small for Gestational Age, Fetal Growth Restriction, Large for Gestational Age: Definitions and Epidemiology. Obstet Gynecol Clin North Am. 2021 Jun;48(2):267-279.
  3. McCowan LM, Figueras F, Anderson NH. Evidencebased national guidelines for the management of suspected fetal growth restriction: comparison, consensus, and controversy. Am J Obstet Gynecol. 2018 Feb;218(2S):S855-S868.
  4. Sacchi C, Marino C, Nosarti C, et al. Association of Intrauterine Growth Restriction and Small for Gestational Age Status With Childhood Cognitive Outcomes: A Systematic Review and Meta-analysis. JAMA Pediatr. 2020 Aug 1;174(8):772-781.
  5. Lees C, Marlow N, Arabin B, et al. Perinatal morbidity and mortality in early-onset fetal growth restriction: cohort outcomes of the trial of randomized umbilical and fetal flow in Europe (TRUFFLE). Ultrasound Obstet Gynecol. 2013 Oct;42(4):400-8.
  6. Paz YMMF, Pauta M, Meler E, et al. Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of nonplacental origin. Ultrasound Obstet Gynecol. 2023 Sep;62(3):361-368.
  7. Maulik D. Fetal growth restriction: the etiology. Clin Obstet Gynecol. 2006 Jun;49(2):228-35.
  8. Bahado-Singh RO, Lynch L, Deren O, et al. First-trimester growth restriction and fetal aneuploidy: the effect of type of aneuploidy and gestational age. Am J Obstet Gynecol. 1997 May;176(5):976-80.
  9. Snijders RJ, Sherrod C, Gosden CM, et al. Fetal growth retardation: associated malformations and chromosomal abnormalities. Am J Obstet Gynecol. 1993 Feb;168(2):547-55.
  10. Souka AP, Von Kaisenberg CS, Hyett JA, et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol. 2005 Apr;192(4):1005-21.
  11. American College of O, Gynecologists Committee on G. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013 Dec;122(6):1374-7.
  12. Hastings PJ, Lupski JR, Rosenberg SM, et al. Mechanisms of change in gene copy number. Nat Rev Genet. 2009 Aug;10(8):551-64.
  13. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215.
  14. Riggs ER, Andersen EF, Cherry AM, et al. Correction: 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. 2021 Nov;23(11):2230.
  15. Chen Y, Xie Y, Jiang Y, et al. The Genetic Etiology Diagnosis of Fetal Growth Restriction Using SingleNucleotide Polymorphism-Based Chromosomal Microarray Analysis. Front Pediatr. 2021;9:743639.
  16. Wu X, He S, Li Y, et al. Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience. BMC Pregnancy Childbirth. 2023 Jan 26;23(1):73.
  17. Borrell A, Grande M, Pauta M, et al. Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis. Fetal Diagn Ther. 2018;44(1):1-9.
  18. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-84.
  19. Yuan M, Deng L, Yang Y, et al. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Ann Hum Genet. 2020 Mar;84(2):169-176.
  20. Liu L, Lei T, Guo F, et al. Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature. Front Genet. 2024;15:1448341.
  21. Sivakumaran TA, Grebe TA. 15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature. Am J Med Genet A. 2023 Sep;191(9):2392-2397.
  22. Davidsson J, Collin A, Bjorkhem G, et al. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet. 2008 Jan 14;9:2.
  23. Grootjen LN, Uyl NEM, van Beijsterveldt I, et al. Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome. J Clin Med. 2022 Jan 28;11(3).
  24. Dudley O, Muscatelli F. Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder. Early Hum Dev. 2007 Jul;83(7):471-8.
  25. Nagamani SC, Zhang F, Shchelochkov OA, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec;46(12):825-33.
  26. Koolen DA, Pfundt R, Linda K, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May;24(5):652-9.
  27. Trimouille A, Houcinat N, Vuillaume ML, et al. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. Eur J Hum Genet. 2018 Jan;26(1):85-93.
  28. Dolan M, Mendelsohn NJ, Pierpont ME, et al. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010 Aug;12(8):503-11.
  29. Grossmann V, Muller D, Muller W, et al. “Essentially” pure trisomy 3q27--> qter: further delineation of the partial trisomy 3q phenotype. Am J Med Genet A. 2009 Nov;149A(11):2522-6.
  30. Cillo F, Coppola E, Habetswallner F, et al. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors. Genes (Basel). 2024 Feb 29;15(3).
  31. Wang Y, Liu C, Hu R, et al. Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome. Orphanet J Rare Dis. 2023 Sep 27;18(1):305.
  32. Palumbi R, Ponzi E, Micella S, et al. Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature. Front Genet. 2024;15:1429185.
  33. Cai M, Que Y, Chen X, et al. 16p13.11 microdele-tion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up. BMC Pregnancy Childbirth. 2022 Dec 7;22(1):913.
  34. Blanchet P, Bebin M, Bruet S, et al. MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genet. 2017 Aug;13(8):e1006957.
  35. Coursimault J, Guerrot AM, Morrow MM, et al. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan;141(1):65-80.
  36. Crippa M, Bonati MT, Calzari L, et al. Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes. Front Genet. 2019;10:955.
  37. Fan LL, Sheng Y, Wang CY, et al. Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion. Front Genet. 2021;12:761003.
  38. Palumbo O, Palumbo P, Di Muro E, et al. A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features. Genes (Basel). 2020 Jun 26;11(6).
  39. Zonana J, Brown MG, Magenis RE. Distal 19q duplication. Hum Genet. 1982;60(3):267-70.
  40. Giacomozzi C. Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much to Discover. Front Endocrinol (Lausanne). 2021;12:671361.
Language: English
Page range: 13 - 21
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 D Perović, P Barzegar, T Damnjanović, B Jekić, M Grk, M Dušanović Pjević, D Cvetković, A Đuranović Uklein, N Stojanovski, M Rašić, I Novaković, B Elhayani, N Maksimović, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.