Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.

Autor: Sium AF; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia., Shimels T; St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia., Abdosh AA; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia., Diress T; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia., Tsegaye T; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia., Yifrashewa T; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia., Terefework Z; MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia., Gudu W; Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2023 Nov 16; Vol. 18 (11), pp. e0294409. Date of Electronic Publication: 2023 Nov 16 (Print Publication: 2023).
DOI: 10.1371/journal.pone.0294409
Abstrakt: Objective: To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.
Methods: This study was a descriptive study on prenatal diagnostic genetic testing among Ethiopian pregnant women with certain indications and it was conducted at St. Paul's Hospital Millennium Medical College (Addis Ababa, Ethiopia) from January 2017 to April 2023. Data on sociodemographic characteristics, genetic testing indications, types, and results were collected electronically. Data were analysed using SPSS version 23.
Results: A total of 159 cases were analysed. The commonest indication for genetic testing among the study subjects was major fetal structural anomalies identified on specialized prenatal anatomic scanning of the index pregnancy detected in 71(44.7%) cases. Down syndrome and Edward syndrome were the commonest genetic aberrations detected accounting for 6.3% (10/159) and 4.4% (7/159), respectively. Among the rare genetic aberration detected were Di-George syndrome (0.6%) and Duchenne muscular dystrophy (0.6%).
Conclusion: Findings of our study underscore the importance of diagnostic prenatal testing in a Sub-Saharan Africa setting, as common (trisomy 21&18) and rare genetic defects were identified using this important prenatal diagnostic testing. Considering the implications of detecting chromosomal abnormalities for future counselling and care, carrier state in parents for some chromosomal anomalies, and planning post-natal management of some abnormalities that are associated with aneuploidies (notably cardiac anomalies), initiation of diagnostic prenatal genetic testing service at tertiary public health facilities should be acted up on.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright: © 2023 Sium et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Databáze: MEDLINE
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