Embryo Project Encyclopedia Articles

Isotretinoin is a molecule and a byproduct (metabolite) of vitamin A, and in greater than normal amounts in pregnant women, it can cause fetal abnormalities including cleft lips, ear and eye defects, and mental retardation. Isotretinoin is commonly called by its trade name Accutane, and it's a chemical compound derived from vitamin A, or retinoic acid. Doctors prescribe isotretinoin to treat severe acne. For pregnant women, too much vitamin A or isotretinoin can also cause greater than normal rates of stillbirths and fetal disintegrations after the ninth week of gestation. Women who use isotretinoin during the first trimester of their pregnancies, even in small amounts, risk defects to their fetuses such as external ear malformations, cleft palates, undersized jaws (micrognathia), a variety of heart defects, buildups of fluids inside the skulls that leads to brain swelling (hydrocephalus), small heads and brains (microcephaly), and mental retardation.

Rudolf Carl Virchow lived in nineteenth century Prussia, now Germany, and proposed that omnis cellula e cellula, which translates to each cell comes from another cell, and which became and fundamental concept for cell theory. He helped found two fields, cellular pathology and comparative pathology, and he contributed to many others. Ultimately Virchow argued that disease is caused by changes in normal cells, also known as cellular pathology.

Josef Warkany studied the environmental causes of birth defects in the United States in the twentieth century. Warkany was one of the first researchers to show that factors in the environment could cause birth defects, and he helped to develop guidelines for the field of teratology, the study of birth defects. Prior to Warkany’s work, scientists struggled to explain if or how environmental agents could cause birth defects. Warkany demonstrated that a deficiency or excess of vitamin A in maternal nutrition could cause birth defects. He also established that mercury in teething powders increased infant mortality rates. Warkany showed how substances outside the human body could adversely affect conception, growth, and development of the human fetus in utero.

In its 1993 decision Daubert v. Merrell Dow Pharmaceuticals, Inc., the US Supreme Court established the Daubert Standard for evaluating the admissibility of scientific knowledge as evidence in US federal courts. When it began in trial court, the case addressed whether or not Bendectin, an anti-nausea medication taken during pregnancy, caused birth defects. However, after the trial court dismissed the case for lack of admissible evidence, Daubert v. Merrell Dow Pharmaceuticals, Inc. advanced through appeals courts to the US Supreme Court, where the Justices defined the criteria by which scientific knowledge, which for them included a least theories based on evidence, expert testimony from scientists, and scientific techniques, could be introduced and used in court cases as evidence. The Daubert Standard states that the judge of a case is responsible for determining what claims are admissible as scientific knowledge and as evidence in the case. The admissibility should be determined by the falsifiability of the claims, by whether or not they had passed peer reviewed, by the general scientific acceptance of the claims, and for techniques, by their error rates of the techniques. Daubert v. Merrell Dow Pharmaceuticals, Inc. set a landmark precedent in the US judicial system and influenced most subsequent legal cases that appealed to science to establish facts in trials.

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.

Isidore Geoffroy Saint-Hilaire studied anatomy and congenital abnormalities in humans and other animals in nineteenth century France. Under the tutelage of his father, Etienne Geoffroy Saint-Hilaire, Isidore compiled and built on his father's studies of individuals with developmental malformations, then called monstrosities. In 1832, Isidore published Histoire generale et particuliere des anomalies de l'organisation chez l'homme et les animaux (General and Particular History of Structural Monstrosities in Man and Animals), in which he defined the term teratology as the study of birth defects and deformities. Isidore Geoffroy Saint-Hilaire established teratology as a legitimate branch of scientific study.

Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth. Brophy advocated surgery on newborns with cleft palates as soon as possible after birth, which met with opposition in the late nineteenth and early twentieth centuries when medical professionals did not operate on infants for non-life threatening conditions. However, Brophy's successful operations convinced many doctors to adopt his technique.

The book Infant Mortality: Results of a Field Study in Johnstown, PA., Based on Births in One Calendar Year (1915), written by Emma Duke, detailed one of the first infant mortality field studies conducted by the US Children's Bureau. In the study, Duke and her colleagues collected information about over one thousand infants in the city of Johnstown, Pennsylvania. They used that information, along with interviews conducted with the families of the infants, to identify factors that affected infant mortality rates in the community. Duke and her team found strong correlations between elevated infant mortality rates and conditions experienced by Johnstown residents of lower socioeconomic status. The design and implementation of the study described in Infant Mortality: Johnstown, PA provided a model for future Children's Bureau research that resulted in seven additional infant mortality studies in other US cities. Infant Mortality: Results of a Field Study in Johnstown, PA., Based on Births in One Calendar Year quantitatively demonstrated the link between poverty and infant mortality.

In 1980, Ernesto Ippolito and Ignacio Ponseti published their results on a histological study they performed on congenital club foot in human fetuses. The researchers examined the feet of four aborted fetuses and compared the skeletal tissues from healthy feet to those affected by congenital club foot. Infants born with club foot are born with one or both feet rigidly twisted inwards and upwards, making typical movement painful and challenging. Ippolito and Ponseti studied how the connective tissues, such as the ligaments and tendons stretching across the foot and ankle, function to pull the affected foot out of place as the fetus develops. Their findings helped researchers determine club foot’s potential causes and possible treatments by focusing on connective tissues.

Annie Dodge Wauneka, a member of the Navajo Tribal Council in Window Rock, Arizona, from 1951 to 1978, advocated for improved lifestyle, disease prevention, and access to medical knowledge in the Navajo Indian Reservation, later renamed the Navajo Nation. Wauneka served as chair of the Health and Welfare Committee of the Navajo Tribal Council and as a member of the US Surgeon General’s Advisory Committee on Indian Health. Wauneka advocated for initiatives aimed at promoting education, preventing tuberculosis, and reducing the infant mortality rate. In 1963, she was awarded the Presidential Medal of Freedom. Wauneka’s initiatives to educate mothers about child health and increase hospital births reduced infant mortality rates in the Navajo Indian Reservation during the twentieth century.