Premarital screening and probabilities of genetic disease in premarital screening and probability of genetic diseases in couples preparing for marriage

  • Cut Muthiadin UIN ALAUDDIN MAKASSAR
Keywords: premarital, genetic disease, screening, genetic counseling, hereditary

Abstract

Genetic diseases are known to be difficult and could not be avoided. The disease is obtained from mutations and changes in genetic traits that are passed on from one or both genes from parent to child. Genes carrying traits or diseases can be dominant and recessive, their location can be on the autosomal chromosome or sex chromosome X or Y. This study was conducted on premarital female respondents with defined inclusion criteria. Data were collected through a google form questionnaire. A total of 110 respondents with several parameters of genetic counseling. The result was obtained that all respondents have known that certain diseases can be inherited. However, from all respondents, it was found that they had low knowledge of genetic counseling and premarital screening. From the respondent's data, it was also found that only 17% of respondents knew the history of the disease of the prospective partner and their family. In this case, it can be said that respondents might be carry the sick gene which means the probability that their child will carry the same gene is 50% normal: 50% sick. By screening, it might be predicted that the couple will be able to find out the potential diseases that will be passed on to their offspring later. Latest 48% decided to cancel and 26% said they did not agree and stated to continue the plan of marriage. Lack of knowledge about risk of genetic disorders need education about premarital screening to increase this information and premarital screening to the public.

References

Aziz, IR, Muthiadin, C., & Nurfitrah, AN (2019). Piebaldism in To Balo, South Sulawesi: Brief Report and Literature Review. Biota, 12(2).https://doi.org/10.20414/JB.V12I2.213
Chial, H. (2008). Mendelian genetics: Patterns of inheritance and single-gene.
Charlesworth, D., Morgan, MT∆, & Charlesworth, B. (2021). The effect of linkage and population size on inbreeding depression due to mutational load. genetics. Res., Camb, 59, 49–61. https://doi.org/10.1017/S0016672300030160
Genetic Alliance. (2009). Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals Genetic Alliance, The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Genetic Alliance Posted in the Resource.http://www.resourcerepository.org/ documents/1247/understandinggenetics:anewyork,mid-atlanticguideforpatientsandhealthprofessionals/
Hamamy, H. (2012). Consanguineous marriages. Journal of Community Genetics, 3(3), 185-192.
Ibrahim, NKR, et al. (2011). An educational program about premarital screening for unmarried female students in King Abdul-Aziz University, Jeddah | Elsevier Enhanced Reader.https://reader.elsevier.com/reader/sd/pii/S1876034110000833?token=9F9B5F1A2E95E8BD99D4737F6D5763737172292699B87C01B4DC4AA321AED1DDDFF3075Forigination=2908Original&euCb9921C20152&ElSevier
Irom BS. (2020) Genetic Disorders: A literature review. Genet Mol Biol Res Vol No: 4 Iss No: 2:30.
Khafizoh, A. (2017). Inbreeding in the Perspective of Islamic Law and Genetics.
McCarrey, JR (2018). genetics vs. epigenetic inheritance overview. Encyclopedia of Reproduction, 434–435.https://doi.org/10.1016/B978-0-12-801238-3.64509-9
Memish, ZA, & Saeedi, MY (2011). Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and -thalassemia in Saudi Arabia. Annals of Saudi medicine, 31(3), 229-235.
Mirza, A., Ghani, A., Pal, A., Sami, A., Hannan, S., Ashraf, Z., . . . Fatmi, Z. (2013). Thalassemia and premarital screening: potential for implementation of a screening program among young people in Pakistan. Hemoglobin, 37(2), 160-170.
Mudiyanse, R., & Senanayake, M. (2015). "Safe Marriages" for Thalassemia Prevention: A KAP Survey in Sri Lanka. Translational Biomedicine, 6(3), 26. doi:https://doi.org/10.21767/2172-0479.100026
Reich DE, Schaffner SF, Daly MJ, et al. (2002). Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genetics 32: 135–142.
Ronfort, J. (2021). The mutation load under tetrasomic inheritance and its consequences for the evolution of the selfing rate in autotetraploid species. genetics. Res., Camb, 74, 31–42. https://doi.org/10.1017/S0016672399003845
Utami, ST, & Kusumaningrum, NS (2020). Knowledge of premarital couples about premarital screening for thalassemia. Journal of Nursing, 11(2).https://doi.org/10.22219/jk.v11i2.10740
Published
2023-05-31
Section
Original Research