Embryo Project Encyclopedia

The article Experimental Studies on Congenital Malformations was published in the Journal of Chronic Diseases in 1959. The author, James G. Wilson, studied embryos and birth defects at the University of Florida Medical School in Gainesville, Florida. In his article, Wilson reviewed experiments on birds and mammals from the previous forty years to provide general principles and guidelines in the study of birth defects and teratogens, which are things that cause birth defects. Those principles included what species are convenient for conducting teratological research, what principles act in human embryological and fetal development, and what agents impact those processes. Wilson's article was one of the first attempts in the twentieth century to synthesize basic research conducted in the field of teratology. The article helped to establish teratology as a field in medicine during the twentieth century.

Sidney Q. Cohlan studied birth defects in the US during the twentieth century. Cohlan helped to discover that if a pregnant woman ate too much vitamin A her fetus faced a higher than normal risk of teratogenic effects, such as cleft palate. A teratogen is a substance that causes malformation of a developing organism. Cohlan also identified the teratogenic effects of several other substances including a lack of normal magnesium and prenatal exposure to the antibiotic tetracycline. Cohlan's experiments with vitamins and other chemicals brought attention to how nutrition and environmental agents adversely affect human pregnancy outcomes.

In 2015, the Public Broadcasting Service, or PBS, released a three-part documentary series, Twice Born–Stories from the Special Delivery Unit, hereafter Twice Born, that follows several pregnant women and their experiences with fetal surgery. Trailblazer Studios produced the film, which predominantly features two women, although it includes the stories of many women. The two main women are pregnant with fetuses diagnosed with physical deformities. One woman’s fetus is diagnosed with spina bifida, an incomplete closure of the fetus’s spinal column. The other woman’s fetus is diagnosed with an oral teratoma, a tumor of the mouth. All the pregnant women in the series went to the Children’s Hospital of Philadelphia, or CHOP, in Philadelphia, Pennsylvania, to have in utero surgery to correct the fetus’s birth defects. Twice Born examines the benefits and risks of performing surgery on a fetus still in the pregnant woman’s uterus. Due to the popularity of PBS, the documentary reached a wide audience and brought the topic of in utero surgery to the public’s attention.

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.

Dandy-Walker Syndrome is a congenital brain defect in humans characterized by malformations to the cerebellum, the part of the brain that controls movement, and to the ventricles, the fluid-filled cavities that surround the cerebellum. The syndrome is named for physicians Walter Dandy and Arthur Walker who described associated signs and symptoms of the syndrome in the 1900s. The malformations often develop during embryonic stages. In early infancy, symptoms include slow motor development and a progressive enlargement of the skull due to cerebrospinal fluid accumulation called hydrocephalus. The prognosis of Dandy-Walker syndrome is highly variable, ranging from minor or negligible birth defects to profound malformations, disability, or early death.

In 1988, the US Centers for Disease Control published 'Health Status of Vietnam Veterans III. Reproductive Outcomes and Child Health,' which summarized part of the results of the Vietnam Experience Study commissioned by US Congress to assess the health of US Vietnam veterans. They published the article in the Journal of the American Medical Association. The most heavily used herbicide in the Vietnam, Agent Orange, had previously been found to contain a contaminant linked to birth defects in rats. By comparing the health of Vietnam War veterans exposed to Agent Orange in Vietnam to those serving elsewhere, researchers determined that veterans who served within Vietnam more frequently reported health problems for themselves and their children, but were not at increased risk of fathering children with birth defects. Later studies overturned that latter conclusion and definitively linked Agent Orange exposure to later birth defects. The article represented the first attempt by the US government to ascertain the full risk of birth defects posed by Agent Orange, which eventually culminated in 1997 when the US Veterans Administration compensating the families of Vietnam veterans for Agent Orange-related birth defects.

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.