Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome. Down Syndrome is a condition present in an individual since birth and is characterized by physical and developmental anomalies such as small ears, a short neck, heart defects, and short height as children and adults. Throughout his career, Lejeune also discovered that other developmental disorders, such as cri du chat (cry of the cat) syndrome, were caused by chromosomal abnormalities. Lejeune also used his influence in the scientific community to promote pro-life beliefs, and often met with Pope John Paul II to discuss ethical dilemmas such as abortion of fetuses after detection of chromosomal abnormalities. Lejeune was one of the first researchers to link chromosomal abnormalities to developmental disorders with his discovery of Trisomy 21, leading future researchers to identify more links between the two.

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.

In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus. HIV is a virus that attacks the immune cells of its host and weakens their ability to fight off diseases. At the time of He’s experiment, various treatments already existed at that could prevent the fetuses from contracting HIV without the need for gene surgery. Nonetheless, He’s experiment led to one of the first successful births of fetuses resulting from genetically modified embryos. He kept his experiment secret until he uploaded the videos announcing the birth of the fetuses, born as two twin girls. The experiment discussed in the videos was successful, but many scientists criticized the experiment due to ethical concerns with the way He conducted it.

To address the international Human Immunodeficiency Virus epidemic, the World Health Organization, or WHO, developed three drug treatment regimens between 2010 and 2012 specifically for HIV-positive pregnant women and their infants. WHO developed the regimens, calling them Option A, Option B, and Option B+, to reduce or prevent mother-to-child, abbreviated MTC, transmission of HIV. Each option comprises of different types and schedules of antiretroviral medications. As of 2018, WHO reported that in Africa alone about 1,200,000 pregnant women were living with untreated HIV. Those women have up to a forty-five percent chance of transmitting HIV to their offspring if they do not receive treatment. Option B+ has decreased the overall maternal mortality rates in many low- and middle-income countries, and numerous studies have supported the notion that it is the most effective of the three regimens for preventing MTC transmission of HIV.

In 2018, researchers Elie Nkwabong, Romuald Meboulou Nguel, Nelly Kamgaing, and Anne Sylvie Keddi Jippe published, “Knowledge, Attitudes, and Practices of Health Personnel of Maternities in the Prevention of Mother-To-Child Transmission of HIV in a sub-Saharan African Region with High Transmission Rate: Some Solutions Proposed,” in BMC Pregnancy and Childbirth. In their article, hereafter “Knowledge, Attitudes, and Practices,” the authors state the aim of their study was to establish the knowledge, attitudes, and practices held by health professionals who worked in numerous maternal departments throughout Cameroon. They claimed that effective knowledge, attitudes, and practices would likely reduce mother-to-child, hereafter MTC, transmission of HIV. After finding a deficit in the knowledge, attitudes, and practices among a subset of health professionals, the authors recommended increased training, funding, and supervision to reduce MTC transmission of HIV throughout Cameroon.