Prenatal diagnosis and preimplantation genetic diagnosis for sickle cell disease in Africa
DOI:
https://doi.org/10.51496/jogm.v2.75Keywords:
preimplantation genetic diagnosis, prenatal diagnosis, sickle cell disease, in vitro fertilization, chorionic villus sampling, amniocentesisAbstract
Sickle cell disease (SCD) is the most common genetic haematological disorder worldwide, and it is a major public health concern, especially in Sub-Saharan Africa. Prenatal diagnosis (PD) and preimplantation genetic diagnosis (PGD) are important reproductive options for the prevention of SCD. Despite the high prevalence of SCD in Nigeria and Sub-Saharan Africa, current trends in PD and PGD for the prevention of SCD are still slow compared to that in developed countries. Attitudes towards PD and PGD for the prevention of SCD in African are influenced by level of awareness, knowledge and educational status, and the main barriers to the uptake of PD and PGD for SCD in Africa are cost, religion, sociocultural, ethical and moral considerations.
We reviewed available data on PD and PGD for SCD in Africa, using the PubMed, PubMed Central, Google Scholar and African Index Medicus search engines, through a combination of words and phrases relevant to the subject. This article reviewed the current trends in PD and PGD for the prevention of SCD and discussed the attitudes towards and the barriers to the uptake of PD and PGD for SCD in Africa.
References
Vrettou C, Kakourou G, Mamas T, Traeger-Synodinos J. Prenatal and preimplantation diagnosis of hemoglobinopathies. Int J Lab Hem 2018; 40(Suppl. 1): 74–82. doi: 10.1111/ijlh.12823 DOI: https://doi.org/10.1111/ijlh.12823
Adenmosun OO, Mbewe AL, Oyelade T, Nurse-Findlay S, Obajimi G, Owolabi AT, et al. Knowledge and perception of pregnant women on control measures for sickle cell disorder (SCD) in South-western Nigeria. Int J Med Sci Health Res 2018; 2(03): 200–12.
Edwin AK, Edwin F, Etwire V. Controlling sickle cell disease in Ghana ethics and options. Pan Afr Med J 2011; 10(14): 1–9. doi: 10.4314/pamj.v10i0.72223 DOI: https://doi.org/10.4314/pamj.v10i0.72223
Emechebe GO, Onyire NB, Orji ML, Achigbu KI. Sickle cell disease in Nigeria – a review. J Dental Med Sci 2017; 16(1): 87–94. doi: 10.9790/0853-1601048794 DOI: https://doi.org/10.9790/0853-1601048794
Nwabuko OC, Onwuchekwa U, Iheji O. An overview of sickle cell disease from the socio-demographic triangle – a Nigerian single – institution retrospective study. Pan Afr Med J 2022; 41: 161. doi: 10.11604/pamj.2022.41.161.27117 DOI: https://doi.org/10.11604/pamj.2022.41.161.27117
Chioma O. Prenatal diagnosis in sickle cell disease: in the eyes of the couple at risk. JAMMR 2020; 32(10): 65–71. doi: 10.9734/jammr/2020/v32i1030520 DOI: https://doi.org/10.9734/jammr/2020/v32i1030520
Yenilmez ED, Tuli A. New perspectives in prenatal diagnosis of sickle cell anemia, sickle cell disease – pain and common chronic complications, baba psalm duniya inusa. Intech Open; 2016. Available from: www.intechopen.com [cited 16 September 2022]. DOI: https://doi.org/10.5772/64646
Giambona A. Embryo-fetal erythroid cell selection from celomic fluid allows earlier prenatal diagnosis of hemoglobinopathies. Prenat Diagn 2016; 36(4): 375–81. doi: 10.1002/pd.4793 DOI: https://doi.org/10.1002/pd.4793
Vali S, Mukhtar S, Nandi A, Wilson K, Oakley L, El-Toukhy T, et al. Cumulative outcome of pre-implantation genetic diagnosis for sickle cell disease: a 5-year review. Br J Haematol 2020; 191: 875–9. doi: 10.1111/bjh.16930 DOI: https://doi.org/10.1111/bjh.16930
Brezina PR, Brezina DS, Kearns WG. Preimplantation genetic testing: clinical review. BMJ 2012; 345: 1–8. doi: 10.1136/bmj.e5908 DOI: https://doi.org/10.1136/bmj.e5908
Braude P, Pickering S, Flinter F, Ogilvie CM. Preimplantation genetic diagnosis. Nat Rev Genet 2002; 3: 941–53. doi: 10.1038/nrg953 DOI: https://doi.org/10.1038/nrg953
Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, Gallego-Merlo J, Lorda-Sanchez I, Rodríguez-Ramirez L, et al. Non-invasive prenatal diagnosis in the management of preimplantation genetic diagnosis pregnancies. J Clin Med 2014; 3: 913–22. doi: 10.3390/jcm3030913 DOI: https://doi.org/10.3390/jcm3030913
Traeger-Synodinos J. Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies. Int J Lab Hematol 2013; 35: 571–9. doi: 10.1111/ijlh.12086 DOI: https://doi.org/10.1111/ijlh.12086
Ganesh B, Rajakumar T, Acharya SK, Kaur H. Sickle cell anemia/sickle cell disease and pregnancy outcomes among ethnic tribes in India: an integrative mini-review. J Matern Fetal Neonatal Med 2021; 35(25): 4897–904. doi: 10.1080/14767058.2021.1872536 DOI: https://doi.org/10.1080/14767058.2021.1872536
Colah RB, Mehta P, Mukherjee MB. Newborn screening for sickle cell disease: Indian experience. Int J Neonatal Screen 2018; 4(4): 31. doi: 10.3390/ijns4040031 DOI: https://doi.org/10.3390/ijns4040031
Lal A, Vichinsky EP. Sickle cell disease. In: Hoffbrand AV, Catovsky D, Tuddenhan EG, eds. Postgraduate hematology. 5th ed. Oxford: Blackwell Publishing; 2005, p. 104. DOI: https://doi.org/10.1002/9780470987056.ch7
Aneke JC, Okocha CE. Sickle cell disease genetic counseling and testing: a review. Arch Med Health Sci 2016; 4: 50–7. doi: 10.4103/2321-4848.183342 DOI: https://doi.org/10.4103/2321-4848.183342
Abioye-Kuteyi EA, Oyegbade O, Bello I, Osakwe C. Sickle cell knowledge, premarital screening and marital decisions among local government workers in Ile-Ife, Nigeria. Afr J Prim Health Care Fam Med 2009; 1(1): 53–7. doi: 10.4102/phcfm.v1i1.22 DOI: https://doi.org/10.4102/phcfm.v1i1.22
Gabriel OO, Matthew CO. Knowledge, attitude and practice of premarital counseling for sickle cell didease among youth in Yaba, Nigeria. Afr J Reprod Health 2013; 17(4): 175–82.
Onuoha EC, Eledo BO, Anyanwu P, Agoro ES. Premarital screening of HIV, haemoglobin genotype, ABO and rhesus blood group among intending couples in Yenegoa, Nigeria. J Biol Agric Healthc 2015; 5(14): 16–23.
Murtala Y, Aisha AS. Audit of antenatal investigation results of patients in Aminu Kano Teaching Hospital: a two-year review. Bo Med J 2021; 18(2): 1–10.
Makani J, Ofori-Acquah SF, Nnodu O, Wonkam A, Ohene-Frempong K. Sickle cell disease: new opportunities and chal- lenges in Africa. ScientificWorld J 2013: 2013: 1–16. doi: 10.1155/2013/193252 DOI: https://doi.org/10.1155/2013/193252
Vermaic. Hemoglobinopathies in India – an overview. In: Proc. Indo-French symposium on recent trends in clinical, diagnostic and reserch aspects of hemoglobinopathies. Kochi, Nov 21–24, 2004; pp. 2–4.
van Campen J, Silcock L, Yau S, Daniel Y, Ahn JW, Ogilvie C, et al. A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies. Br J Haematol 2020; 190: 119–24. doi: 10.1111/bjh.16529 DOI: https://doi.org/10.1111/bjh.16529
Ahmed Y, Panti AA, Umar AG, Funtua AR, Abdullahi N, Garba JA. Knowledge and acceptability of prenatal diagnosis among pregnant women attending antenatal clinic in a tertiary health institution in Sokoto, Nigeria. Int J Reprod Contracept Obstet Gynecol 2021; 10(10): 3678–83. doi: 10.18203/2320-1770.ijrcog20213830 DOI: https://doi.org/10.18203/2320-1770.ijrcog20213830
Adekanbi AOA, Olayemi OO, Fawole AO. The knowledge base and acceptability of prenatal diagnosis by pregnant women in Ibadan. Afr J Reprod Health 2014; 18(1): 127–32.
Adeyemi AS, Adekanle DA. Knowledge and attitude of female health workers towards prenatal diagnosis of sickle cell disease. Niger J Med 2007; 16(3): 268–70.
Fadare JO. Some ethical issues in the prenatal diagnosis of sickle cell anaemia. Ann Ibadan Postgrad Med 2009; 7(2): 26–8. doi: 10.4314/aipm.v7i2.64084 DOI: https://doi.org/10.4314/aipm.v7i2.64084
Wonkam A, de Vries J,Royal CD, Ramesar R, Angwafo FF. Woulg you terminate a pregnancy affected by sickle cell disease? Analysis of views patients in Cameroon. J Med Ethics 2014; 40: 615–20. doi: 10.1136/medethics-2013-101392 DOI: https://doi.org/10.1136/medethics-2013-101392
Okorie PC, Abayomi OA. Abortion laws in Nigeria: a case for reform. Annu Survey Int Comp Law 2019; 23(1): 1–29.
Okeke C, Ailoje-Ibru K, Olukoya K, Ogbeche R, Adewusi A, Iloabachie E, et al. Successful pregnancy outcome after in vitro fertilisation following Pre-implantation Genetic Diagnosis/Polymerase Chain Reaction screening for single gene disorder (sickle cell anaemia) before embryo transfer: the clinical experience of an in vitro fertilisation clinic in Nigeria. Niger Med J 2014; 55: 87–90. doi: 10.4103/0300-1652.128181 DOI: https://doi.org/10.4103/0300-1652.128181
Ibrahim W, Christopher D, Mohamed C. Live birth following preimplantation genetic testing to prevent sickle cell disease in a low resource setting: a case report. Afr J Reprod Health 2020; 24(4): 218–20.
Pecker LH, Naik RP. The current state of sickle cell trait: implications for reproductive and genetic counseling. Am Soc Hematol 2018; 132(22): 2331–8. doi: 10.1182/blood-2018-06-848705 DOI: https://doi.org/10.1182/blood-2018-06-848705
Leive A, Xu K. Coping with out-of-pocket health payments: empirical evidence from 15 African countries. Bull World Health Organ 2008; 86: 849–56. doi: 10.2471/BLT.07.049403 DOI: https://doi.org/10.2471/BLT.07.049403
Lu L, Lv B, Huang K, Xuo Z, Zhu X, Fan G. Recent advances in preimplantation genetic diagnosis and screening. J Assist Reprod Genet 2016; 33(9): 1129–34. doi: 10.1007/s10815-016-0750-0 DOI: https://doi.org/10.1007/s10815-016-0750-0
Dondorp W, de Wert G. Refining the ethics of preimplantation genetic diagnosis: a plea for contextualized proportionality. Bioethics 2019; 33: 294–301. doi: 10.1111/bioe.12534 DOI: https://doi.org/10.1111/bioe.12534
Published
How to Cite
License
Copyright (c) 2022 Chukwuemeke Nzekwue, Onome Ogueh
This work is licensed under a Creative Commons Attribution 4.0 International License.
Journal of Global Medicine | Editor-in-Chief: Olufunso Adedeji. MBBS, MD, FRCSEd. 
