Embryo Project Encyclopedia

Anatomical models have always been a mainstay of descriptive embryology. As the training of embryologists grew in the late 1800s, so too did the need for large-scale teaching models. Embryo wax models, such as those made by Adolf Ziegler and Gustav Born, were popular in the latter part of the nineteenth century and the early twentieth century as a way to visualize, in three dimensions, the fine detail of embryos without the aid of a microscope. While these models were found in many university laboratories, museums of science, and even expositions and world's fairs, they were anything but easy to make or obtain. Wax modeling required skill, patience, and specialized tools. Small laboratories with only one or two embryologists often found the prospect of wax modeling too laborious, too difficult, and too expensive to make the pursuit worthwhile. As an alternative, Susanna Phelps Gage, an embryologist at Cornell University, perfected a technique of using stacks of absorbent blotting paper rather than stacks of wax plates for constructing embryo models. She first demonstrated her blotting paper method to other embryologists at the annual meeting of the Association of American Anatomists in 1905 and later at the International Zoological Congress, held in Boston in August 1907.

As the third director of the Carnegie Institute of Washington s Department of Embryology, George Washington Corner made a number of contributions to the life sciences as well as to administration. Corner was born on 12 December 1889 in Baltimore, Maryland, near the newly established Johns Hopkins University. Although Corner was not exposed to science much in school at a young age, he developed an early appreciation for science through conversations with his father about geography and by looking through the family's National Geographic magazines.

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.

Franklin Paine Mall was born into a farming family in Belle Plaine, Iowa, on 28 September 1862. While he attended a local academy, an influential teacher fueled Mall's interest in science. From 1880-1883, he studied medicine at the University of Michigan, attaining his MD degree in 1883. William J. Mayo, who later became a famous surgeon and co-founder of the Mayo Clinic in Rochester, Minnesota, was a classmate of Mall's. Throughout his studies at Michigan, he was influenced by Corydon L. Ford, a professor of anatomy, Victor C. Vaughn, a biochemist and bacteriologist, and Henry Sewall, a physiologist.

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.

Fetus in fetu is a rare variety of parasitic twins , where the developmentally abnormal parasitic twin is completely encapsulated within the torso of the otherwise normally developed host twin. In the late eighteenth century, German anatomist Johann Friedrich Meckel was the first to described fetus in fetu, which translates to “fetus within fetus.” Fetus in fetu is thought to result from the unequal division of the totipotent inner cell mass , the mass of cells that is the ancestral precursor to all cells in the body. The unequal division is thought to occur during the formation of the blastocyst, which can also result in parasitic and conjoined twins . Fetus in fetu represents a developmental anomaly that has prompted developmental biologists to further examine the mechanisms for how twins arise.

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.