Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
<h4>Objective</h4>To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.<h4>Methods</h4>This study was a descriptive study on prenatal diagnostic genetic testing among Ethiopian pregnant women with certain...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2023-01-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0294409&type=printable |
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| author | Abraham Fessehaye Sium Tariku Shimels Abdulfetah Abdulkadir Abdosh Tesfaye Diress Tigist Tsegaye Tizibt Yifrashewa Zewdu Terefework Wondimu Gudu |
| author_facet | Abraham Fessehaye Sium Tariku Shimels Abdulfetah Abdulkadir Abdosh Tesfaye Diress Tigist Tsegaye Tizibt Yifrashewa Zewdu Terefework Wondimu Gudu |
| author_sort | Abraham Fessehaye Sium |
| collection | DOAJ |
| description | <h4>Objective</h4>To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.<h4>Methods</h4>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.<h4>Results</h4>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%).<h4>Conclusion</h4>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. |
| first_indexed | 2024-03-09T00:22:14Z |
| format | Article |
| id | doaj.art-5039aa8dd4904d138fdac9a452e83cc7 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-03-09T00:22:14Z |
| publishDate | 2023-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-5039aa8dd4904d138fdac9a452e83cc72023-12-12T05:34:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-011811e029440910.1371/journal.pone.0294409Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.Abraham Fessehaye SiumTariku ShimelsAbdulfetah Abdulkadir AbdoshTesfaye DiressTigist TsegayeTizibt YifrashewaZewdu TerefeworkWondimu Gudu<h4>Objective</h4>To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.<h4>Methods</h4>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.<h4>Results</h4>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%).<h4>Conclusion</h4>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.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0294409&type=printable |
| spellingShingle | Abraham Fessehaye Sium Tariku Shimels Abdulfetah Abdulkadir Abdosh Tesfaye Diress Tigist Tsegaye Tizibt Yifrashewa Zewdu Terefework Wondimu Gudu Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. PLoS ONE |
| title | Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. |
| title_full | Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. |
| title_fullStr | Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. |
| title_full_unstemmed | Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. |
| title_short | Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study. |
| title_sort | indications types and diagnostic implications of prenatal genetic testing in sub saharan africa a descriptive study |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0294409&type=printable |
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