Embryo Project Encyclopedia

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.

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.

Michael R. Harrison worked as a pediatric surgeon in the US throughout the late-twentieth century and performed many fetal surgeries, including one of the first successful surgeries on a fetus in utero, or while it is still in its gestational carrier’s body, also called open fetal surgery. A fetus is an organism developing inside of the uterus that is anywhere from eight weeks old to birth. Harrison hypothesized that open fetal surgery could correct developmental defects that may become fatal to the fetus at birth. After years of research, Harrison and his colleagues at the University of California, San Francisco, in San Francisco, California, performed surgery on the fetus of a woman in her seventh month of pregnancy to correct the fetus’s developmental defects. The surgery was successful, as the fetus developed into a healthy child. Harrison’s work led to advancements in fetal treatment techniques, such as a method to conduct open fetal surgery that will not harm the fetus or pregnant woman, as well as the establishment of one of the first fetal treatment centers in the US.

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.

James Graves Wilson's six principles of teratology, published in 1959, guide research on teratogenic agents and their effects on developing organisms. Wilson's six principles were inspired by Gabriel Madeleine Camille Dareste's five principles of experimental teratology published in 1877. Teratology is the study of birth defects, and a teratogen is something that either induces or amplifies abnormal embryonic or fetal development and causes birth defects. Detailed in his 1973 monograph, Environment and Birth Defects, Wilson's principles helped scientists research teratogens experimentally.

Environment and Birth Defects by James Graves Wilson in the US was published in 1973. The book summarized information on the causes of malformations in newborns and aimed to acquaint policy makers with Wilson's suggestions for predicting the risks of environmental causes of birth defects, called teratogens. Wilson also provided six principles for researching teratogens, a framework revised from his 1959 article Experimental Studies on Congenital Malformations. The book has ten chapters. The body of the text is followed by three appendices that contain reference material and photographs of laboratory animals, and reproductive and embryological information.

Surgeons sometimes operate on the developing fetuses in utero of pregnant women as a medical intervention to treat a number of congential abnormalities, operations that have ethical aspects. A. William Liley performed the first successful fetal surgery, a blood transfusion, in New Zealand in 1963 to counteract the effects of hemolytic anemia, or Rh disease. The ethical discussions surrounding fetal surgery are complex and are still being defined, as fetal surgery represents an emerging field of in utero medical interventions that impact the quality of life for both pregnant women and fetuses. Such discussions involve the ethical relationships between parents, fetuses, doctors, and health care organizations like hospitals. What may benefit the fetus may harm the pregnant woman, and what may benefit the pregnant woman could negatively impact the viability of the pregnancy. Risks to the pregnant woman include preterm membrane rupture, preterm labor, wound infection, hemorrhage, loss of uterus, damage to the organs near the uterus, and possibly death. Fetal surgery does not always improve the quality of life for the developing fetus, and the risks and benefits of fetal surgery must be carefully weighed and discussed between the medical team, the pregnant woman, and her partner to customize the most ethical plan of action

Congenital rubella syndrome (CRS) can occur in children whose mothers contracted the rubella virus, sometimes called German measles, during pregnancy. Depending on the gestational period when the mother contracts rubella, an infant born with CRS may be unaffected by the virus or it may have severe developmental defects. The most severe effects of the virus on fetal development occur when the mother contracts rubella between conception and the first trimester. Defects from maternal rubella in the first trimester are included in the term congenital rubella syndrome, but physicians and researchers specifically refer to those defects as rubella embryopathy. Developmental defects are less severe if the mother contracts rubella in the second trimester, and they are generally negligible if the infection occurs in the third trimester. Prenatal rubella infection can cause birth defects which include deafness, compromised vision, abnormal heart development, and damage to the central nervous system which can lead to compromised cognition and learning disabilities.

Johann Friedrich Meckel studied abnormal animal and human anatomy in nineteenth century Germany in an attempt to explain embryological development. During Meckel's lifetime he catalogued embryonic malformations in multiple treatises. Meckel's focus on malformations led him to develop concepts like primary and secondary malformations, atavism, and recapitulation- all of which influenced the fields of medicine and embryology during the nineteenth and twentieth centuries.

Cocaine use by pregnant women has a variety of effects on the embryo and fetus, ranging from various gastro-intestinal and cardiac defects to tissue death from insufficient blood supply. Thus, cocaine has been termed a teratogen, or an agent that causes defects in fetuses during prenatal development. Cocaine is one of the most commonly used drugs in the US and it has a history of both medical and illegal recreational use. It is a drug capable of a wide array of effects on physical and mental health. Research on the teratogenic effects of cocaine began in the early 1980s, and in 1985 research on the effects of cocaine on prenatal development gained widespread attention. Since then, numerous studies have contributed to information about the detrimental impacts of maternal cocaine use on embryonic and fetal development.