Exploring complex cases of paternity: unraveling maternal uniparental isodisomy, chromosome mutations, and tetragametic blood chimerism
Keywords:
PATERNITY, DISORDERS, MUTATION, CHROMOSOMES.Abstract
Introduction: paternity studies by genetic analysis, based on STRs, repetitive DNA sequences, are essential for determining biological relationships. DNA sample collection, PCR amplification and comparison of STR profiles guarantee high accuracy. These tests, essential in legal contexts, also have applications in genealogy and forensics. Despite their advances, ethical and legal challenges arise, highlighting the importance of handling the results sensitively. Technological evolution promises more accessible and accurate tests, but their implementation must carefully consider ethical and emotional implications.
Objective: to analyze the methodology and results of genetic paternity studies in STRs, highlighting their importance in legal and personal contexts.
Methods: the study was developed through structured research in specialized repositories. PRISMA methodology was applied to include systematic reviews and meta-analyses, ensuring quality and authenticity of the sources. Results: Paternity analyzes based on STRs proved to be highly accurate and were used in diverse areas, from legal disputes to genealogy. In addition, advances in prenatal testing and its applications in other scientific branches were explored.
Conclusions: the studies revealed the importance of extended typing, forensic genomics, and overcoming limitations of standard techniques in complex paternity cases. The need to consider diverse methodologies to obtain accurate and reliable conclusions highlighted the importance of addressing ethical and legal dilemmas associated with the use of paternity testing.
Downloads
References
1. Department of Health NHD England. NHS public health funtions agreement 2015-2016. London: PHE publications [Internet]; 2014 Dec [citado 25/09/2024]. Disponible en: https://assets.publishing.service.gov.uk/media/5a7509c340f0b6360e472d79/No16_NHS_Downs_Syndrome_Screening_Trisomy_21.pdf
2. Cuckle HS, Wald NJ, Thompson SG. Estimating a woman´s risk of having a pregnancy associated with Down´s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynecol[Internet]. 1987[citado 25/09/2024]; 94(5): 387- 402. Disponible en: https://doi.org/10.1111/j.1471-0528.1987.tb03115.x
3. Chitayat D, Langlois S, Wilson RD. Prenatal screening for fetal aneuploidy in singleton pregnancies. J Obstet Gynaecol Can[Internet]. 2011[citado 25/09/2024]; 33(7):736- 50. Disponible en: https://pubmed.ncbi.nlm.nih.gov/21749752/
4. NHS. National Down’s syndrome screening programme for England. National specification for risk calculation software and guiance on implementtation [Internet]. London: Public Health England publications; 2013 [citado 25/09/2019]. Disponible en: https://www.gov.uk/government/publications/downs-syndrome-screening-risk-calculation-software-requirements
5. Palomaki GE, Bradley LA, McDowell GA, Down Syndrome Working Group, ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines: Prenatal screening for Down syndrome. Genet Med[Internet]. 2005[citado 25/09/2024]; 7(5):344-54. Disponible en: https://doi.org/10.1097/01.gim.0000167808.96439.f3
6. Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: Performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol[Internet]. 2013[citado 25/09/2024]; 41(1): 102-13. Disponible en: https://doi.org/10.1002/uog.12342
7. Sociedad Española de Ginecología y Obstetricia. Guía de Asistencia Práctica. Guía de Exploración ecográfica del 1er trimestre. Progr Obstet Ginecol[Internet]. 2022[citado 25/09/2024]; 65: 240-290. Disponible en: https://sego.es/documentos/progresos/v65-2022/n6/05%20Gui%CC%81a%20de%20la%20exploracio%CC%81n%20ecogra%CC%81fica%20del%20I%20trimestre.pdf
8. Sociedad Española de Ginecología y Obstetricia. Cribado y diagnóstico precoz de anomalías genéticas. Progr Obstet Ginecol[Internet]. 2018[citado 25/09/2024]; 61(6): 605-629. Disponible en: https://sego.es/documentos/progresos/v61-2018/n6/GAP-CRIBADO-%20250918.pdf
9. Cuckle H, Platt LD, Thornburg LL, Bromley B, Fuchs K, Abuhamad A, et al. Nuchal Translucency Quality Review (NTQR) program: First one and half million results. Ultrasound Obstet Gynecol[Internet]. 2015[citado 25/09/2024]; 45: 199-204. Disponible en: https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/uog.13390
10. NHS. Screening Programmes . Fetal anomaly screening programme standards. Screening standards for the Fatal Anomaly Screeninng Programme (FASP). NHS England[Internet]; 2015[citado 25/09/2024]. Disponible en: https://www.gov.uk/government/publications/fetal-anomaly-screening-programme-standards
11. Sullivan-Pyke C, Dokras A. Preimplantation genetic screening and preimplantation genetic diagnosis. Obstet Gynecol Clin North Am[Internet]. 2018[citado 25/09/2024]; 45(1): 113-125. Disponible en: https://doi.org/10.1016/j.ogc.2017.10.009
12. Burke W, West K. Preimplantation genetic testing for genetic kidney disease: Addressing moral uncertainties and access inequity. Clin J Am Soc Nephrol[Internet]. 2020[citado 25/09/2024]; 15(9): 1231-1233. Disponible en: https://doi.org/10.2215/CJN.11790720
13. Martello CL, Kulmann MIR, Donatti LM, Bos-Mikich A, Frantz N. Preimplantation genetic testing for aneuploidies does not increase success rates in fresh oocyte donation cycles: a paired cohort study. J Assist Reprod Genet[Internet]. 2021[citado 25/09/2024]; 38(11): 2909-14. Disponible en: https://doi.org/10.1007/s10815-021-02339-2
14. Greco E, Litwicka K, Minasi M, Cursio E, Greco P, Barillari P. Preimplantation genetic testing: Where we are today. Int J Mol Sci[Internet]. 2020[citado 25/09/2024]; 21(12): 4381. Disponible en: https://doi.org/10.3390/ijms21124381
15. Harper J. Preimplantation genetic screening. J Med Screen[Internet]. 2018[citado 25/09/2024]; 25(1): 1-5. Disponible en: https://doi.org/10.1177/0969141317691797
16. Jeremić A, Vuković D, Subanović S, Broćić J, Macanović B. Preimplantation genetic testing. Srpski Med Cas Lek Kom[Internet]. 2021[citado 25/09/2024]; 2(2). Disponible en: https://doi.org/10.5937/smclk2-30790
17. Putra NE. Preimplantation genetics diagnosis: Ethical and legal aspects. In International Conference on Law, Economics and Health (ICLEH 2020) [Internet]; 2020 May[citado 25/09/2024]. Disponible en: https://doi.org/10.2991/aebmr.k.200513.102
18. Kar B, Aftab A. Preimplantation genetic diagnosis in India: The current scenario and potential developments. J Fetal Med[Internet]. 2018[citado 25/09/2024]; 5: 107-112. Disponible en: https://www.thieme-connect.de/products/ejournals/pdf/10.1007/s40556-018-0159-1.pdf
19. Sciorio R, Aiello R, Irollo AM. Review: Preimplantation genetic diagnosis (PGD) as a reproductive option in patients with neurodegenerative disorders. Reprod Biol[Internet]. 2021[citado 25/09/2024]; 21(1): 100468. Disponible en: https://doi.org/10.1016/j.repbio.2020.100468
20. Handyside A. 'Designer babies' almost thirty years on. Reproduction[Internet]. 2018[citado 25/09/2024]; 156(1): F75-F79. Disponible en: https://doi.org/10.1530/rep-18-0157
21. King DS. Preimplantation genetic diagnosis and the ‘new’ eugenics. J Med Ethics[Internet]. 1999[citado 25/09/2024]; 25(2): 176-182. Disponible en: https://doi.org/10.1136/jme.25.2.176
22. Wu X, Guan J, Peng H, Wang Q. Preimplantation genetic diagnosis of hereditary hearing loss: a narrative review. J Bio-XResearch[Internet]. 2021[citado 25/09/2024]; 4(4): 137-144. Disponible en: http://dx.doi.org/10.1097/JBR.0000000000000106
23. De la Torre Núñez E del C. Uztariz Fajardo FJ. Advances in genetic identification and DNA profile analysis in forensic biology. Antomía Digital. Ciencias Forences[Internet]. 2024[citado 25/09/2024]; 7(2.2). Disponible en: https://cienciadigital.org/revistacienciadigital2/index.php/AnatomiaDigital/article/view/3173
24. Harvey JS. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. J Cli Med[Internet]. 2014[citado 25/09/2024]; 3(1): 280-309. Disponible en: https://doi.org/10.3390/jcm3010280
25. Mumusoglu S, ekir Telek S, Ata Baris. Preimplantation genetic testing for aneuploidy in unexplained recurrent pregnancy loss: a systematic review and meta-analysis. Fertil Steril[Internet]. 2025[citado 25/03/2025]; 123(1): 121-136. Disponible en: https://doi.org/10.1016/j.fertnstert.2024.08.326
26. Brezina PR, Zhao Y. The ethical, legal, and social issues impacted by modern assisted reproductive technologies. Obstet Gynecol Int[Internet]. 2012[citado 25/09/2024]; 2012: 686253. Disponible en: https://doi.org/10.1155/2012/686253
27. Kayser M, Knijff P. Improving human forensics through advances in genetics, genomics and molecular biology. Nat rev genet[Internet]. 2011[citado 25/09/2024]; 12(3): 179-92. Disponible en: https://doi.org/10.1038/nrg2952
28. Mo S, Liu Y, Wang S, Bo X, Li Z, Chen Y, et al. Exploring the efficacy of paternity and kinship testing based on single nucleotide polymorphisms. Forensic Sci Int Genet[Internet]. 2016[citado 25/09/2024]; 22: 161-168. Disponible en: https://doi.org/10.1016/j.fsigen.2016.02.012
29. Trent RJ. Forensic Medicine and Science. En Molecular Medicine. Elsevier[Internet]; 2005[citado 25/09/2024]: 221-236. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/B9780126990577500096
30. Bishai D. A national sample of US paternity tests: do demographics predict test outcomes? TRANSFUSION[Internet]. 2006[citado 25/09/2024]; 46(5): 849-853. Disponible en: https://doi.org/10.1111/j.1537-2995.2006.00806.x
31. Bellis M, Hughes K, Hughes S, Ashton J. Measuring paternal discrepancy and its public health consequences. J Epidemiol Community Health[Internet]. 2005[citado 25/09/2024]; 59(9): 749-54. Disponible en: https://doi.org/10.1136/jech.2005.036517
32. Kerr SP, Kerr W, Xu T. “Personality Traits of Entrepreneurs: A Review of Recent Literature”, Foundations and Trends R in Entrepreneurship. 2018; 14(3): 279–356. Disponible en: http://dx.doi.org/10.1561/0300000080
33. Jianf Y, Xiao YX, et al. Maternal uniparental isodisomy for chromosome 6 in 2 prenatal cases with IUGR: case reportand and literature review. Molecular Cytogenetics[Internet]. 2024[citado 25/09/2024]; 17(1). Disponible en: https://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-023-00670-0
34. Manuset-Lupo A, Henke J, Henke L, Blank C, Ernsting A, Kozlowski P, et al. A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome. Forensic Science International: Genetics[Internet]. 2009[citado 25/09/2024]; 3(2): 141-43. Disponible en: https://doi.org/10.1016/j.fsigen.2008.09.010
35. Tabrizi A, Hejazi A, Hosseini M. An Unusual Case0020in Paternity Testing Nineteen Autosomal Short Tandem Repeat Typing and 12 X-Chromosome Markers Could Not Clarify the Case. Am J Forensic Med Pathol[Internet]. 2013[citado 25/09/2024]; 34(4): 328-30. Disponible en: https://doi.org/10.1097/paf.0000000000000061
36. Doniec A, Luczak W, Wróbel M, Janula M, Ossowski A, Grzmil P, et al. Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2. Genes(Basel) [Internet]. 2021[citado 25/09/2024]; 12(1): 62. Disponible en: https://doi.org/10.3390/genes12010062
37. Yu Q, Li Q, Gao S, Su Y, Deng Z. Congenital Tetragametic Blood Chimerism Explains a Case of Questionable Paternity. Journal of Forensic Sciences[Internet]. 2011[citado 25/09/2024]; 56(5): 1346-48. Disponible en: https://doi.org/10.1111/j.1556-4029.2011.01794.x
38. Barash M, Reshef A, Voskoboinik L, Zamir A, Motro U, Gafny R. A Search for Obligatory Paternal Alleles in a DNA Database to find an Alleged Rapist in a Fatherless Paternity Case. J Forensic Sci[Internet]. 2012[citado 25/09/2024]; 57(4): 1098-1101. Disponible en: https://doi.org/10.1111/j.1556-4029.2012.02095.x
39. González-Herrera LJ, García-Aceves ME, Domínguez-Cruz MD, López-González PN, Sosa-Escalante JE, Rangel-Villalobos H. A four-step mutation at D22S1045 in one complex paternity case when the brother of the alleged father hypothesis is evaluated. Int J Legal Med[Internet]. 2020[citado 25/09/2024]; 134(5): 1647-1652. Disponible en: https://doi.org/10.1007/s00414-020-02312-1
40. Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter’s Syndrome A Case Report. Archives of Andrology[Internet]. 2009[citado 25/09/2024]; 8(2):149-151. Disponible en: https://doi.org/10.3109/01485018208987032 .
41. Soler A, Sánchez A, Margarit E, Badenas C, Milà M. Diagnóstico prenatal de disomía uniparental. Diagn Prenat[Internet]. 2013[citado 25/09/2024]; 24(3):108–16. Disponible en: https://www.elsevier.es/es-revista-diagnostico-prenatal-327-articulo-diagnostico-prenatal-disomia-uniparental-S2173412713000395
42. Talantova OE, Koltsova AS, Tikhonov AV, Pendina AA, Malysheva OV, Tarasenko OA,et al. Prenatal detection of trisomy 2: Considerations for genetic counseling and testing. Genes (Basel) [Internet]. 2023[citado 25/09/2024]; 14(4): 913. Disponible en: https://doi.org/10.3390/genes14040913
Downloads
Published
How to Cite
Issue
Section
License
Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/
