Embryo Project Encyclopedia

Rosalind Elsie Franklin worked with X-ray crystallography at King's College London, UK, and she helped determine the helical structure of DNA in the early 1950s. Franklin's research helped establish molecular genetics, a field that investigates how heredity works on the molecular level. The discovery of the structure of DNA also made future research possible into the molecular basis of embryonic development, genetic disorders, and gene manipulation.

Orchiopexy, also known as orchidopexy, is a surgical technique that can correct cryptorchidism and was successfully performed for one of the first times in 1877 in Scotland. Cryptorchidism, a condition where one or both of the testicles fail to descend before birth, is one of the most common male genital birth defects, affecting approximately 2 to 8 percent of full-term male infants, and around 33 percent of premature infants. Typically in the womb, male testes form within the abdomen, then descend into the scrotal area between twenty-five to thirty-five weeks’ gestation. If one or both testicles fail to descend before birth, physicians use orchiopexy to surgically relocate the undescended testes to their normal position in the scrotum. According to many researchers, most cases of cryptorchidism do not resolve on their own, and therefore, orchiopexy surgery is often necessary. Orchiopexy, when performed before puberty, can decrease the risk of testicular cancer and infertility associated with cryptorchidism.

First manufactured in 1988 by Serono laboratories, recombinant gonadotropins are synthetic hormones that can stimulate egg production in women for use in fertility treatments. Recombinant gonadotropins are artificially created using recombinant DNA technology, a technology that joins together DNA from different organisms. In vertebrates, naturally-occurring gonadotropins regulate the growth and function of the gonads, known as testes in males and ovaries in females. Medical professionals can derive female gonadotropins from the urine of pregnant and post-menopausal women, often using it to facilitate in vitro fertilization, or IVF. With the rapid development of assisted reproductive technologies like IVF, demand for human-derived gonadotropins rose to a global yearly demand of 120 million liters of urine by the beginning of the twenty-first century, which resulted in a demand that could not be met by traditional technologies at that time. Therefore, researchers created recombinant gonadotropins to establish a safer and more consistent method of human gonadotropin collection that met the high demand for its use in fertility treatments.

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.

Our Bodies, Ourselves, a succession to a pamphlet of resources pulled from co-ops of women in and around Boston, Massachusetts was published in New York in 1973 by Simon and Schuster. Retitled from the original Women and Their Bodies, Our Bodies, Ourselves was an effort by a group of educated, middle class women to reinforce women's ownership of their bodies. There have been eight editions of Our Bodies, Ourselves, as well as sequels such as Our Bodies, Ourselves: Pregnancy and Birth and Our Bodies, Ourselves: Menopause. Our Bodies, Ourselves has sold more than four million copies and been printed in twenty foreign-language editions.

In 2007, Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis published “Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function,” hereby “Diabetes Mellitus: Implications,” in the journal Human Reproduction. In their article, the authors explore the effects of elevated blood sugar in the form of diabetes mellitus on the quality of male sperm. When investigating possible fertility issues, fertility specialists often study semen, the male reproductive fluid that contains sperm cells to detect changes in sperm count, movement, and structure. In “Diabetes Mellitus: Implications,” the authors use both conventional semen analysis and technical molecular methods to assess the quality of sperm from diabetic and non-diabetic men. The authors found that men with diabetes had higher levels of DNA damage within their sperm and highlighted a need for additional research on the link between diabetes and male reproductive health.

Teratogens are substances that may produce physical or functional defects in the human embryo or fetus after the pregnant woman is exposed to the substance. Alcohol and cocaine are examples of such substances. Exposure to the teratogen affects the fetus or embryo in a variety of ways, such as the duration of exposure, the amount of teratogenic substance, and the stage of development the embryo or fetus is in during the exposure. Teratogens may affect the embryo or fetus in a number of ways, causing physical malformations, problems in the behavioral or emotional development of the child, and decreased intellectual quotient IQ in the child. Additionally, teratogens may also affect pregnancies and cause complications such as preterm labors, spontaneous abortions, or miscarriages. Teratogens are classified into four types: physical agents, metabolic conditions, infection, and finally, drugs and chemicals.

In the twentieth century, researchers developed the oral glucose tolerance test, or OGTT, as a method to diagnose different types of diabetes, a medical condition that causes blood sugar levels to become abnormally high. During the test, a healthcare provider measures a person’s blood sugar levels before and after the person consumes a predetermined amount of glucose solution. While not exclusively used for pregnant women, an OGTT may test for gestational diabetes which, according to the International Diabetes Federation, affected one in six pregnancies worldwide in 2019. Generally, the results from an OGTT can inform a patient and her physician how her body is responding to glucose during pregnancy, and high levels may increase her risk of developing adverse pregnancy outcomes such as heavy bleeding during delivery and a high blood pressure condition known as preeclampsia. An OGTT can help to accurately diagnose, treat, and monitor gestational diabetes in pregnant women, which can reduce health and pregnancy complications for the woman and the fetus.

The endothelium is the layer of cells lining the blood vessels in animals. It weighs more than one kilogram in adult humans, and it covers a surface area of 4000 to 7000 square meters. The endothelium is the cellular interface between the circulating blood and underlying tissue. As the medium between these two sets of tissues, endothelium is part of many normal and disease processes throughout the body. The endothelium responds to signals from its surrounding environment to help regulate functions like the resistance that blood vessels need to pump blood through the body (vasomotor tone), the policing of substances trying to enter or exit the blood vessel (blood vessel permeability), and the ability of blood to clot (hemostasis). In addition to diseases like atherosclerosis, endothelium has been indicated as a component in pathologies like cancer, asthma, diabetes, hepatitis, multiple sclerosis, and sepsis. The shape, size, and appearance of endothelial cells, called their phenotypes, vary depending upon which part of the body the cells are from, a property called phenotypic heterogeneity. The endothelium, its properties, and its responses to stimuli are governed largely by the local environment of the cells.

The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy. The alcohol-induced defects include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing central nervous system (CNS). FAS is the most serious condition physicians group under the heading of Fetal Alcohol Spectrum Disorders, which also includes Alcohol-Related Birth Defects, like alcohol-induced congenital cardiac defects that are unrelated to a diagnosis of FAS, and Alcohol-Related Neurodevelopmental Disorders, which occur in the absence of any facial birth defects or growth delays. The severity of birth defects associated with FAS can vary depending on the intensity, duration, and frequency of exposure to alcohol during gestation. In addition to these dose-related concerns, maternal factors such as the mother's genetics or how quickly she metabolizes alcohol, and the timing of exposure during prenatal development also impact alcohol-induced abnormalities. As birth defects and anomalies can arise when pregnant women consume alcohol, alcohol is a teratogen, an environmental agent that negatively impacts the course of normal embryonic or fetal development.