John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes. In 1866, Down published one of the first accounts to accurately describe people with Down Syndrome, or what he called “Mongolism,” and identify it as a distinct condition. Additionally, Down advocated for people with mental disabilities at a time when their families commonly abandoned them and medical professionals did not prioritize them. He improved the quality of care for people in the centers he worked in and increased their educational opportunities so they would be better prepared to live a normal life. Down brought increased attention to Down Syndrome, leading to the future discovery of the chromosomal anomaly that causes the disorder, and promoting a higher standard of care for people with mental disabilities.

As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease. Trisomy 21 changes the way in which a fetus’s brain develops, which accounts for many intellectual disabilities. The United States Centers for Disease Control and Prevention, or CDC, estimates Trisomy 21 occurs approximately once in every 700 human births, averaging about 6,000 live Down syndrome births every year in the US. Down syndrome is a lifelong developmental condition, but there are many resources available to those living with Down syndrome and their families.

The National Association for Down Syndrome, or NADS, is an organization that was founded in 1960 by Kathryn McGee in Chicago, Illinois, to support people with Down syndrome and their families in improving their quality of life. Originally named the Mongoloid Developmental Council, NADS is one of the oldest organizations serving people with Down syndrome and their families in the United States. According to NADS, Down syndrome is a genetic condition that occurs in one in every seven hundred ninety-two people and that causes delays in physical and intellectual development. Members of NADS work to provide information, resources, and access to services and programs for families with Down syndrome, educate the public, address social policy issues and challenges, and facilitate advocacy efforts within the Down syndrome community. For over sixty years, NADS has helped support individuals born with Down syndrome, one of the most common genetic disorders, in the US to find acceptance, develop their capabilities, and work toward independence.

On 1 February 1998, David T. Helm, Sara Miranda, and Naomi Angoff Chedd published “Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth,” hereafter “Mothers’ Reflections,” in the journal Mental Retardation. In 2007, Mental Retardation changed its name to Intellectual and Developmental Disabilities. Down syndrome is the result of an extra copy or partial copy of chromosome 21, also known as Trisomy 21. It is characterized by traits such as intellectual disabilities, differing facial features, and a high risk for heart disease. In the study, the authors interviewed ten mothers, all of whom had elected to continue with their pregnancy after a prenatal diagnosis of Down syndrome, about their experiences with health care professionals. The article provides suggestions for health care professionals, such as providing up-to-date materials and unbiased information and avoiding judgmental language, so that when mothers receive a prenatal diagnosis of a developmental disability, they are prepared and supported.