Department of obstetrics and Gynecology, St Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.
PLoS One. 2023 Nov 16;18(11):e0294409. doi: 10.1371/journal.pone.0294409. eCollection 2023.
To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.
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.
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%).
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.
描述埃塞俄比亚孕妇产前诊断遗传羊膜穿刺术的适应证、检测类型和结果。
这是一项在具有特定适应证的埃塞俄比亚孕妇中进行的产前诊断遗传检测的描述性研究，于 2017 年 1 月至 2023 年 4 月在圣保禄医院千年医科大学（埃塞俄比亚亚的斯亚贝巴）进行。收集了社会人口统计学特征、遗传检测适应证、类型和结果等电子数据。使用 SPSS 版本 23 对数据进行分析。
共分析了 159 例病例。在研究对象中，最常见的遗传检测适应证是在专门的产前解剖扫描中发现的主要胎儿结构异常，在 71 例（44.7%）病例中发现。唐氏综合征和爱德华兹综合征是最常见的遗传异常，分别占 6.3%（10/159）和 4.4%（7/159）。检测到的罕见遗传异常包括 Di-George 综合征（0.6%）和杜氏肌营养不良症（0.6%）。
我们的研究结果强调了在撒哈拉以南非洲环境中进行诊断性产前检测的重要性，因为使用这种重要的产前诊断检测可以识别常见的（21 三体和 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携带者状态以及一些与非整倍体相关的异常（尤其是心脏异常）的产后管理计划，应在三级公立卫生机构启动诊断性产前遗传检测服务。
