作者
Antonio R Porras, Matthew S Bramble, Kizito Mosema Be Amoti, Cécile Dakande, Hans Manya, Neerja Vashist, Esther Likuba, Joachim Mukau Ebwel, Céleste Musasa, Helen Malherbe, Bilal Mohammed, Carlos Tor-Diez, Dieudonné Mumba Ngoyi, Désiré Tshala Katumbay, Marius George Linguraru, Eric Vilain
发表日期
2021/9/1
期刊
European journal of medical genetics
卷号
64
期号
9
页码范围
104267
出版商
Elsevier Masson
简介
Down syndrome is one of the most common chromosomal anomalies affecting the world's population, with an estimated frequency of 1 in 700 live births. Despite its relatively high prevalence, diagnostic rates based on clinical features have remained under 70% for most of the developed world and even lower in countries with limited resources. While genetic and cytogenetic confirmation greatly increases the diagnostic rate, such resources are often non-existent in many low- and middle-income countries, particularly in Sub-Saharan Africa. To address the needs of countries with limited resources, the implementation of mobile, user-friendly and affordable technologies that aid in diagnosis would greatly increase the odds of success for a child born with a genetic condition. Given that the Democratic Republic of the Congo is estimated to have one of the highest rates of birth defects in the world, our team sought to …
引用总数
20212022202320241233
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