Embryo Project Encyclopedia

Karl Oskar Illmensee studied the cloning and reproduction of fruit flies, mice, and humans in the US and Europe during the twentieth and twenty-first centuries. Illmensee used nuclear transfer techniques (cloning) to create early mouse embryos from adult mouse cells, a technique biologists used in later decades to help explain how embryonic cells function during development. In the early 1980s, Illmensee faced accusations of fraud when others were unable to replicate the results of his experiments with cloned mouse embryos. Illmensee also worked with human embryos, investigating how embryos split to form identical twins.

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 the second half of the
twentieth century, scientists learned how to clone organisms in some
species of mammals. Scientists have applied somatic cell nuclear transfer to clone human and
mammalian embryos as a means to produce stem cells for laboratory
and medical use. Somatic cell nuclear transfer (SCNT) is a technology applied in cloning, stem cell
research and regenerative medicine. Somatic cells are cells that
have gone through the differentiation process and are not germ
cells. Somatic cells donate their nuclei, which scientists
transplant into eggs after removing their nucleuses (enucleated eggs).
Therefore, in SCNT, scientists replace the nucleus in an egg cell
with the nucleus from a somatic cell.

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.

The Boys from Brazil is a science fiction film based on the novel of the same name by Ira Levin about an underground neo-Nazi society in South America trying to clone Adolf Hitler, the dictator of Nazi Germany during World War II, to restore the Nazi movement. The film was directed by Franklin Schaffner and released in 1978 by 20th Century Fox in Los Angeles, California. The Boys from Brazil is a film that was one of the first films to depict cloning, and to discuss the ethical implications of genetic engineering, cloning, and eugenics.

Advanced Cell Technology (ACT), a stem cell biotechnology company in Worcester, Massachusetts, showed the potential for cloning to contribute to conservation efforts. In 2000 ACT researchers in the United States cloned a gaur (Bos gaurus), an Asian ox with a then declining wild population. The researchers used cryopreserved gaur skin cells combined with an embryo of a domestic cow (Bos taurus). A domestic cow also served as the surrogate for the developing gaur clone. The successful procedure opened the opportunity to clone individuals from species for which there are few or zero live specimens. The official release of this experiment's data was published in the paper 'Cloning of an Endangered Species (Bos gaurus) Using Interspecies Nuclear Transfer,' in October 2000. In the article, the researchers presented data collected from several cloned fetuses that were aborted before the full term of 283 days. At the time of publication, the gaur bull fetus, named Noah at birth, had developed for greater than 180 days. Noah was born on 8 January 2001, but died two days later due to dysentery. The development, birth, and death of Noah became a platform for conservationists and ethicists to critique the role of cloning in society and as a method to conserve species.

The first successful cloning of a gaur in 2000 by Advanced Cell Technology involved the cells of two animals: an egg cell from a domestic cow and a skin cell from a gaur. The researchers extracted the egg cell from the ovary of the domestic cow and the skin cell from the skin of the gaur. First, the researchers performed nuclear transplantation on the egg cell of the cow, during which they removed the nucleus of the egg cell. The mitochondria of the egg cell remained intact inside the cell. Next, the researchers fused the egg cell of the cow and the skin cell of the gaur by applying a single electric pulse. That process resulted in a cellular complex that contained the nucleus from the gaur and the mitochondria from the cow. That cellular complex was then placed into the uterus of a different domestic cow. Once the cellular complex developed into a Day 46 fetus, researchers conducted morphological and genetic tests. The fetus then further developed into a gaur calf, which lived for forty-eight hours after birth.