Single Genetic Disease In Nigeria Case Study

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2. Genetic diseases
The prevalence of genetic disease in Nigeria, as one of the various congenital disorders, can be discussed in two folds: chromosomal and single genetic etiologies.
Genetic diseases of chromosomal etiology
Of the chromosomal etiology, Down syndrome was reported to have an incidence of 1 in every 865 live birth, 19 and Turner’s syndrome of 1 in every 2745 live female birth in Nigeria as at 1982, 20 no other reliable study have been done on genetic diseases of chromosomal etiology since then.
Genetic diseases of single genetic etiology
Sickle cell disease (SCD), on the other hand, is the most prevalent genetic disease in Africa, with 75% of all SCD patients domiciling in sub-Saharan Africa. Nigeria alone accounts for more
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25, 26, 27 The aim is to provide services for the diagnosis of congenital disorders and genetic diseases: clinical and laboratory (cytogenetics, biochemical assays, DNA testing, etc.); genetics counselling; pre-conception care; prenatal screening; prenatal and pre-implantation genetic diagnoses; newborn screening; carrier screening; population genetic screening according to other established policies. 2
The only recognizably functional and well organized available community genetic service in Nigeria is that provided by Sickle Cell foundation in Nigeria, at the centre, genetic counselling services are provided at their national centre, and at some carefully selected sickle cell clinics and sickle cell clubs all around Nigeria. 21 The centre also provides prenatal diagnosis of SCD using Chorionic Villus Sampling, Fetal Blood Sampling, Amniocentesis methods, and offer post-test counselling.
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4. Advanced age before marriage and conception
The economic downturn in Nigeria and the belief that higher education attainment is a gateway to better living, have made many Nigerians to marry late, which in essence increase the risk of them having children with congenital disorders, since advanced age of women in giving birth has been inculpated to be a trigger for the conception of babies with Down’s syndrome and advanced paternal age has been associated with the increase risk of occurrence of new mutations causing autosomal dominant disorders. 27, 28, 29, 30
5. Large family

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