Prevalence and diagnostic dilemma of chromosomal abnormalities in the Niger Delta area of Nigeria; Is prenatal diagnosis worthwhile?

Abstract

The total number of babies that were delivered by the 5868 participants in the study was 6078, out of which 10 cases of aneuploides were identified - 3 cases of trisomy 18 and 7 cases of Trisomy 21. The prevalence of chromosomal abnormalities at birth at the RSUTH was 0.165% of the total births, 1:2000 and 1:654 for T18 and T21 respectively. 1:654 mothers had babies with chromosomal abnormalities, 1:2000 and 1:833 for T18 and T21 respectively.Conclusion: The prevalence of chromosomal abnormalities at birth at the RSUTH of 0.165% represented a gross underestimation because the diagnosis was based on the outward phenotypical appearance of the neonates and it was made not from babies delivered at 20 weeks and above as practiced in Europe and other countries, but from 28 weeks. Prenatal diagnosis was therefore highly recommended in the Niger Delta.