Demographic Assessment of Down Syndrome: A Systematic Review

Abstract

The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing, and to identify sources frequently used for demographic assessment of Down Syndrome in the world. We reviewed existing studies on demographic transformations in the population with Down Syndrome, specifically birthrate indicators, under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The searches were made in Medline (via EBSCO Host), Academic Search Complete (via EBSCO Host), PsycINFO (via EBSCO Host), Web of Science (Core Collection), Public Health Database (via ProQuest), and The Cochrane Library. The terms were developed through Medical Subject Headings (MESH) and American Psycological Asociation Thesaurus of Psychological Index Terms (APA). Full texts were reviewed if information was given regarding location and birthrate for a range of three years or more, and if the first and last year considered was within 1960 and 2019. We found 22 references with a period of study between 1960 and 2019 following the global spread of prenatal testing for Down Syndrome. We found a consistent association between prenatal diagnosis and birthrate, enough to explain the significant fall in the prevalence of Down Syndrome, a somewhat rising incidence of Down Syndrome related to increased maternal age and extension of fertility services in healthcare systems, a generalized use of specific congenital birth defect registries as the primary source of data, and an unclear influence of socio-cultural and territorial variables. Our findings can inform research, policy, and practice to improve the reproductive health and quality of life of the population with Down Syndrome.

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

“…Trisomies are important chromosomal aberrations that are often associated with varying degrees of intellectual disabilities, several health and developmental defects, and whose incidence is correlated with increasing maternal age [1]. Although the average maternal age has increased globally in the last 50 years, the incidence of trisomy has significantly decreased during that time frame due to the increased utilization of improved prenatal screening tests [2]. Historically, these prenatal screening tests consisted of biochemical blood tests and/or ultrasound scans.…”

Prenatal Testing – What Is It Good For? A Review and Critique

“…Thus, many babies with Down syndrome are still being born. While the incidence of Down syndrome at birth has decreased in the US and Europe, due primarily to prenatal diagnosis and selective termination, this decrease has been partially offset by a parallel increase in the population frequency of Down syndrome across the age spectrum as the result of more pregnancies to woman 35 and older, combined with longer survival of people with Down syndrome due to improvements in their medical care, increasing social stigmatization of, and increasing difficulty in obtaining, abortion [5,42,44,[49][50][51]. Prenatal testing can result in a significantly lower occurrence of Down syndrome in any given country or region but it currently does not pose an existential threat to the frequency of Down syndrome on a global level.…”

Predictors of individual quality of life in young people with Down syndrome.

“…It results in distinctive physical features and is the most common cause of intellectual disability (ID; Antonaros et al, 2020). The overall incidence of DS is around 1 in every 700 births, increasing with maternal age (Huete-García & Otaola-Barranquero, 2021). Compared with the general population, people with DS have a higher prevalence of associated conditions, such as heart disease, gastrointestinal disorders, endocrine abnormalities, or vision and hearing impairments (Lagan et al, 2020).…”