International Journal of Infertility & Fetal Medicine

Register      Login

VOLUME 14 , ISSUE 2 ( May-August, 2023 ) > List of Articles


The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies

Mercedes Olaya-C, Olga M Moreno

Keywords : Abortion, Anatomic pathology, Birth defects, Fetal diseases, Fluorescence in situ hybridization, Neonatal–perinatal medicine, Spontaneous

Citation Information : Olaya-C M, Moreno OM. The Ongoing Challenge of Achieving Precise Diagnosis of Fetal Chromosome Disorders by FISH in Autopsies. Int J Infertil Fetal Med 2023; 14 (2):70-74.

DOI: 10.5005/jp-journals-10016-1311

License: CC BY-NC 4.0

Published Online: 12-05-2023

Copyright Statement:  Copyright © 2023; The Author(s).


Introduction: Chromosome abnormalities are an important cause of fetal and perinatal deaths. Molecular testing can be a useful tool in preconception counseling in selected families. However, such testing is neither routine nor mandatory at many healthcare centers; a number of factors can contribute to the lack of genetic and chromosome diagnoses. Materials and methods: We performed an observational analytical study on 42 paraffin-embedded samples from fetal autopsy tissue with the suspected chromosomal disorder; we tested the efficacy of the fluorescence in situ hybridization (FISH) probe to ascertain the presence of common chromosome abnormalities. Results: Use of the FISH technique in paraffin-embedded tissue has been standard practice in oncopathology; there now exists standardization of these probes in fetal and neonatal tissue. Our study analyzes various difficulties we encountered with the FISH probe when used for chromosome abnormalities diagnoses in fetal autopsies, and we conclude with pertinent recommendations for improving test outcomes. Conclusion: Simultaneous occurrence of chromosome disorders and advanced maceration is common; maceration interferes with the proper performance of the FISH test; however, we view this diagnostic tool as appropriately functional when used under specific conditions.

PDF Share
  1. Olaya-C M, Ortega RI, Suárez-Obando F, et al. Phenotypical characterization of patients who underwent perinatal autopsy at the Hospital Universitario San Ignacio. Univ Médica 2019;60(1):1–7. DOI: 10.11144/Javeriana.umed60-1.feno
  2. Olaya CM, Zarante A. Trisomy 13 and its placental alterations. Univ Med 2012;53(4):443–451.
  3. Khong TY. & MRD. Congenital Abnormalities: nosis and Screening. InPrenatal Diag:Khong TY.,Malcomson RD, editors. Keeling's Fetal and Neonatal Pathology. Fourth. Philadelphia: Springer; 2015. p. 123–61.
  4. Elsayed GM, El Assiouty L, El Sobky ES. The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities. Springerplus 2013;2:490. DOI: 10.1186/2193-1801-2-490
  5. Weise A, Liehr T. Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH). Methods Mol Biol 2008;444:39–47. DOI: 10.1007/978-1-59745-066-9_3
  6. Poaty H, Pelluard F, André G, et al. Truncus arteriosus communis: report of three cases and review of literature. Afr Health Sci 2018;18(1):147–156. DOI: 10.4314/ahs.v18i1.19
  7. Lovrecic L, Remec ZI, Volk M, et al. Clinical utility of array comparative genomic hybridization in prenatal setting. BMC Med Genet 2016;17(1):81. DOI: 10.1186/s12881-016-0345-8
  8. Su SY, Chueh HY, Li CP, et al. Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism. Taiwan J Obstet Gynecol 2015;54(5):588–591. DOI: 10.1016/j.tjog.2015.08.019
  9. Sheth F, Rahman M, Liehr T, et al. Prenatal screening of cytogenetic anomalies-a Western Indian experience. BMC Pregnancy Childbirth 2015;15:90. DOI: 10.1186/s12884-015-0519-y
  10. Chakravarty A, De P, Chakravarty S. Invasive pre- and postnatal genetic evaluation reduces the reproductive risk in the era of noninvasive or minimally invasive prenatal screening method. Int J Gynecol Endosc 2017;1(1):35–39. DOI: 10.5005/jp-journals-10058-0008
  11. Yakut S, Çetin Z, Şimşek M, et al. Prenatal tanıda nadir yapısal kromozom anomaliler; 10125 prenatal olgunun klinik ve sitogenetik bulguları. Turk Patoloji Derg 2015;31(1):36–44. DOI: 10.5146/tjpath.2014.01280
  12. Dong Z, Yan J, Xu F, et al. Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage. Am J Hum Genet 2019;105(6):1102–1111. DOI: 10.1016/j.ajhg.2019.10.003
  13. Tidrenczel Z, Tardy EP, Pikó H, et al. Prenatal diagnosis of 4q terminal deletion and review of the literature. Cytogenet Genome Res 2019;158(2):63–73. DOI: 10.1159/000500735
  14. Brun S, Pennamen P, Mattuizzi A, et al. Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction. Prenat Diagn 2018;38(13):1111–1119. DOI: 10.1002/pd.5372
  15. De P, Chakravarty S, Chakravarty A. Pre- and postnatal genetic evaluation reduce the reproductive risk of nonhomologous Robertsonian translocation carrier couple. Int J Infertil Fetal Med 2017;8(1):36–40. DOI: 10.5005/jp-journals-10016-1145
  16. Jarzembowski JH DA. Molecular techniques in Pediatric Pathology. In:Stocker J DLHA, editor. Pediatric Pathology. Fourth. Philadelphia: Lippincott Williams and Wilkins; 2015. p. 21–46.
  17. Olaya-C M, Galvis Navarrete SH, Giraldo Ospina GA, et al. Enfoque de las gestaciones múltiples de diagnóstico difícil durante la autopsia perinatal. Rev Ciencias la Salud 2017;15(3):357–371. DOI: 10.12804/
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.