ArticlePloS one2023
Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
Article in PloS one, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 3 citations in OpenAlex.
- The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.Genes · 2026Article
- Clinical Use of Combined First-Trimester Screening Test for Aneuploidy in A Low-Income Setting: Retrospective Study.Health science reports · 2026Article
- Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.Clinical case reports · 2025Article
- Scoping review: the current landscape of NIPT in South Africa.Journal of community genetics · 2025Review
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8 authors at 1 institution in 1 country.
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Abstract
objectiveTo describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.
methodsThis 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.
resultsA 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%).
conclusionFindings 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.
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