Eur J Med Genet 2021 Jun 20:104267. Epub 2021 Jun 20.
Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, USA; International Research Laboratory of Epigenetics, Data, Politics, Centre National de la Recherche Scientifique, Washington, DC, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA; International Research Laboratory of Epigenetics, Data, Politics, Centre National de la Recherche Scientifique, Paris, France. Electronic address:
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. Read More