In 1861, William John Little published, “On The Influence of Abnormal Parturition, Difficult Labors, Premature Birth, and Asphyxia Neonatorum, on the Mental and Physical Condition of the Child, Especially in Relation to Deformities,” hereafter “Abnormal Parturition,” in the Transactions of the Obstetrical Society of London. In the article, Little discussed the causes and types of what he refers to as abnormal births, and theorized how those births affect an infant’s likelihood of exhibiting a deformity. Little defined abnormal births as those involving an atypical maternal or fetal presentation, such as a slow birthing process or a fetus exiting the birth canal feet first rather than head first. In his article, Little published one of the first definitional frameworks to describe a condition causing rigidity and stiffness in the limbs that is often associated with birth-related trauma, which was then called Little’s disease, but is modernly known as spastic Cerebral Palsy.

The March of Dimes Foundation, or the March of Dimes, is a non-profit organization headquartered in Arlington, Virginia, focused on the health of pregnant women and infants in the US. Former United States president Franklin Delano Roosevelt founded the March of Dimes, then called the National Foundation for Infantile Paralysis, in 1938 to address polio. Polio is a viral illness that infects the spinal cord and may lead to paralysis. Roosevelt contracted polio in 1921, which left him permanently paralyzed from the waist down. During the 1960s, after scientists introduced polio vaccines, March of Dimes shifted its focus to prevent preterm birth and birth defects. As a non-profit organization, March of Dimes provides community service, funds for research, and efforts to educate the public about preterm birth and birth defects. While March of Dimes’ original goal was to help reduce the spread of polio in the US, it was also one of the first organizations to lead a campaign to prevent birth defects and infant mortality.

William John Little was one of the first orthopedic surgeons to research congenital malformations and their causes in the nineteenth century and presented preliminary research on a condition modernly known as cerebral palsy, a condition of varying severity that affects a person’s ability to move. Little worked throughout the United Kingdom for the majority of the time he practiced medicine, and eventually founded one of the first orthopedic infirmaries, the Royal Orthopedic Hospital in London, England. Throughout his career, Little studied congenital malformations, which are medical conditions inherited before birth, as well as how certain medical circumstances during delivery affect the neonate. In 1861, he described a condition with motor, behavioral, and cognitive irregularities in neonates, linked with oxygen deprivation during birth. Little’s research on that condition, originally called Little’s disease, and modernly, spastic cerebral palsy, was one of the first accounts of cerebral palsy in infants.

In 1616 in Padua, Italy, Fortunio Liceti, a professor of natural philosophy and medicine, wrote and published the first edition of De Monstruorum Causis, Natura et Differentiis (On the Reasons, Nature, and Differences of Monsters), hereafter De monstruorum. In De monstruorum, Liceti chronologically documented cases of human and animal monsters from antiquity to the seventeenth century. During the seventeenth century, many people considered such monsters as frightening signs of evil cursed by spiritual or supernatural entities. Liceti categorized monsters based on their potential causes, several of which he claimed were unrelated to the supernatural. Historians later noted that some documented monsters were infants with birth defects. In De monstruorum, Liceti elevated the status of monsters to potential subjects of scientific inquiry and provided an early model for the study of birth defects, a field later called teratology.

Kurt Benirschke studied cells, placentas, and endangered species in Germany and the US during the twentieth century. Benirschke was professor at the University of California in San Diego, California, and a director of the research department at the San Diego Zoo in San Diego, California. He also helped form the research department of the San Diego Zoo and its sister organization, the Center for Reproduction of Endangered Species. Benirschke contributed to the field of embryology through his work on human and animal reproduction, including work on human placentas and birth defects, through work on the structure of chromosomes, and through work on the reproduction and conservation of endangered species.

Fortunio Liceti studied natural philosophy and medicine in Italy during the first half of the seventeenth century. Liceti wrote greater than seventy works on a wide range of topics, including the human soul, reproduction, and birth defects observed in animals and human infants. In the seventeenth century, people commonly addressed birth defects using superstition and considered them as signs of evil, possibly caused by spiritual or supernatural entities. Liceti described infants with birth defects as prodigies and monsters to be admired and studied rather than feared. Liceti’s works established monsters as a possible subject of scientific inquiry and served as models for the future study of birth defects, a field later called teratology. Liceti was one of the first scholars to attempt to systematically categorize birth defects based on their causes, including multiple causes unrelated to the supernatural.

In 1843, physician Oliver Wendell Holmes wrote and published The Contagiousness of Puerperal Fever, an essay about puerperal fever, a disease that occurs mainly as a result of bacterial infection in the uterine tract of women after giving birth or undergoing an abortion. In the essay, Holmes argues that puerperal fever is spread through birth attendants like physicians and midwives who make contact with the disease and carry it from patient to patient. The article was published in The New England Quarterly Journal of Medicine and Surgery in 1843. Holmes, who lived in Boston, Massachusetts, later republished his essay as a private publication in 1855 with a different title, Puerperal Fever as a Private Pestilence. Holmes's essay was one of the first publications to present puerperal fever as a contagious disease and to discuss preventative measures to inhibit the spread of puerperal fever, which helped preserve the lives of pregnant women and their newborns.

During 1964, David Hubel and Torsten Wiesel studied the short and long term effects of depriving kittens of vision in one eye. In their experiments, Wiesel and Hubel used kittens as models for human children. Hubel and Wiesel researched whether the impairment of vision in one eye could be repaired or not and whether such impairments would impact vision later on in life. The researchers sewed one eye of a kitten shut for varying periods of time. They found that when vision impairments occurred to the kittens right after birth, their vision was significantly affected later on in life, as the cells that were responsible for processing visual information redistributed to favor the unimpaired eye. Hubel and Wiesel worked together for over twenty years and received the 1981 Nobel Prize for Physiology or Medicine for their research on the critical period for mammalian visual system development. Hubel and Wiesel’s experiments with kittens showed that there is a critical period during which the visual system develops in mammals, and it also showed that any impairment of that system during that time will affect the lifelong vision of a mammal.

David Hunter Hubel studied the development of the visual system and how the brain processes visual information in the US during the twentieth century. He performed multiple experiments with kittens in which he sewed kitten’s eyes shut for varying periods of time and monitored their vision after reopening them. Hubel, along with colleague Torsten Wiesel, received the 1981 Nobel Prize in Physiology or Medicine for that research. By using kittens as models for human children and sewn eyes as models for congenital vision disorders, Hubel’s research demonstrated how vision impairments can affect the development of the visual system in humans. Furthermore, Hubel’s research has informed surgeons about the importance of operating on infants with vision impairments during the first months of life to prevent deterioration of the visual cortex of the brain and permanent vision loss.

In 2013, George Church and his colleagues at Harvard University in Cambridge, Massachusetts published RNA-Guided Human Genome Engineering via Cas 9, in which they detailed their use of RNA-guided Cas 9 to genetically modify genes in human cells. Researchers use RNA-guided Cas 9 technology to modify the genetic information of organisms, DNA, by targeting specific sequences of DNA and subsequently replacing those targeted sequences with different DNA sequences. Church and his team used RNA-guided Cas 9 technology to edit the genetic information in human cells. Church and his colleagues also created a database that identified 190,000 unique guide RNAs for targeting almost half of the human genome that codes for proteins. In RNA-Guided Human Genome Engineering via Cas 9, the authors demonstrated that RNA-guided Cas 9 was a robust and simple tool for genetic engineering, which has enabled scientists to more easily manipulate genomes for the study of biological processes and genetic diseases.