Embryo Project Encyclopedia

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.

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.

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.

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.

Virginia Apgar worked as an obstetrical anesthesiologist, administering drugs that reduce women’s pain during childbirth, in the US in the mid-twentieth century. In 1953, Apgar created a scoring system using five easily assessable measurements, including heart rate and breathing rate, to evaluate whether or not infants would benefit from medical attention immediately after birth. Apgar’s system showed that infants who were previously set aside as too sick to survive, despite low Apgar scores, could recover with immediate medical attention. Additionally, Apgar researched the effects of anesthesia used during childbirth and advocated for the prevention and management of birth defects. Apgar’s work led to a decrease in infant mortality rates in the mid-twentieth century, and into the twenty-first century, hospitals around the world still used the Apgar score at one and five minutes after birth.

George Richard Tiller, a doctor who performed abortions in Wichita, Kansas, was shot to death on 31 May 2009 by Scott Roeder. As the director of one of only a small number of clinics in the US that performed legal late-term abortions, Tiller was a target for anti-abortion activists. Though Tiller lived and worked in Kansas, his work agitated anti-abortion groups and fueled the controversy surrounding abortion at a national level. Tiller's life and death fueled the abortion debate in the US.

In his 1991 article Screening for Congenital Hypothyroidism, Delbert A. Fisher in the US reported on the implementation and impact of mass neonatal screening programs for congenital hypothyroidism (CH) from the early 1970s through 1991. CH is a condition that causes stunted mental and physical development in newborns unless treatment begins within the first three months of the newborn's life. In the early 1970s, regions in Canada and the US had implemented screening programs to diagnose and treat CH as quickly as possible after the infant's birth. By 1991 many other countries had adopted the early screening program, and Fisher estimated that 10 to 12 million newborns per year were tested in the early 1990s. The screening programs, along with physician education and improved screening techniques, such as radioimmunoassay, helped significantly reduce the incidence of abnormal newborn development resulting from untreated congenital hypothyroidism.

In Australia in the 1940s, Norman McAlister Gregg observed a connection between pregnant women who contracted the rubella virus, or German measles, and cataract formation in their children's eyes. Gregg published his findings in the 1941 article Congenital Cataract following German Measles in the Mother in Transactions of the Ophthalmological Society of Australia. In the article, Gregg analyzed seventy-eight cases of congenital cataracts and suggested that the mothers' environmental factors could cause birth defects, otherwise known as teratogenic effects. Gregg's paper on the teratogenic effects of an environmental agent, the rubella virus, changed the study of birth defects to include viruses as potential causes or teratogens.

Fetal surgeries are a range of medical interventions performed in utero on the developing fetus of a pregnant woman to treat a number of congenital abnormalities. The first documented fetal surgical procedure occurred in 1963 in Auckland, New Zealand when A. William Liley treated fetal hemolytic anemia, or Rh disease, with a blood transfusion. Three surgical techniques comprise many fetal surgeries: hysterotomy, or open abdominal surgery performed on the woman; fetoscopy, for which doctors use a fiber-optic endoscope to view and make repairs to abnormalities in the fetus; and percutaneous fetal theray, for which doctors use a catheter to drain excess fluid. As the sophistication of surgical and neonatal technology advanced in the late twentieth century, so too did the number of congenital disorders fetal surgeons treated, such as mylomeningeocele, blocked urinary tracts, twin-to-twin transfusion syndrome, polyhydramnios, diaphragmatic hernia, tracheal occlusion, and other anomalies. Many discuss the ethics of fetal surgery, as many consider it contentious, as fetal surgery risks both the developing fetus and the pregnant woman, and at times it only marginally improves patient outcomes. Some argue, however, that as more advanced diagnostic equipment and surgical methods improve, advanced clinical trials in a few conditions may demonstrate more benefits than risks to both pregnant women and fetuses.

Anencephaly is an open neural tube defect, meaning that part of the neural tube does not properly close or that it has reopened during early embryogenesis. An embryo with anencephaly develops without the top of the skull, but retains a partial skull, including the face. Anencephaly is one of the most common birth defects of the neural tube, occurring at a rate of approximately one in one thousand human pregnancies. The condition can be caused by environmental exposure to chemicals, dietary deficiencies, or genetic mutations.