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Abstract：
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%).
CONCLUSIONS: 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.
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%).
CONCLUSIONS: 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.
摘要：
目的：描述适应症，测试类型,和埃塞俄比亚孕妇产前诊断遗传性羊膜穿刺术的结果。
方法：这项研究是对埃塞俄比亚孕妇进行产前诊断基因检测的描述性研究，并在圣保罗医院千年医学院（亚的斯亚贝巴，埃塞俄比亚）从2017年1月到2023年4月。关于社会人口特征的数据，基因检测适应症,类型,结果以电子方式收集。使用SPSS版本23分析数据。
结果：共分析159例。研究对象中最常见的基因检测指征是在71例（44.7％）病例中检测到的索引妊娠的专门产前解剖扫描中发现的主要胎儿结构异常。唐氏综合征和爱德华综合征是最常见的遗传畸变，分别占6.3%(10/159)和4.4%(7/159)，分别。检测到的罕见遗传畸变包括Di-George综合征（0.6％）和Duchenne肌营养不良（0.6％）。
结论：我们的研究结果强调了在撒哈拉以南非洲地区进行产前诊断性检测的重要性，使用这项重要的产前诊断检测发现了常见（21和18三体）和罕见的遗传缺陷。考虑到检测染色体异常对未来咨询和护理的影响，一些染色体异常的父母的携带者状态，并计划产后处理一些与非整倍体相关的异常（特别是心脏异常），应在三级公共卫生机构启动诊断性产前基因检测服务。
方法：这项研究是对埃塞俄比亚孕妇进行产前诊断基因检测的描述性研究，并在圣保罗医院千年医学院（亚的斯亚贝巴，埃塞俄比亚）从2017年1月到2023年4月。关于社会人口特征的数据，基因检测适应症,类型,结果以电子方式收集。使用SPSS版本23分析数据。
结果：共分析159例。研究对象中最常见的基因检测指征是在71例（44.7％）病例中检测到的索引妊娠的专门产前解剖扫描中发现的主要胎儿结构异常。唐氏综合征和爱德华综合征是最常见的遗传畸变，分别占6.3%(10/159)和4.4%(7/159)，分别。检测到的罕见遗传畸变包括Di-George综合征（0.6％）和Duchenne肌营养不良（0.6％）。
结论：我们的研究结果强调了在撒哈拉以南非洲地区进行产前诊断性检测的重要性，使用这项重要的产前诊断检测发现了常见（21和18三体）和罕见的遗传缺陷。考虑到检测染色体异常对未来咨询和护理的影响，一些染色体异常的父母的携带者状态，并计划产后处理一些与非整倍体相关的异常（特别是心脏异常），应在三级公共卫生机构启动诊断性产前基因检测服务。
