Walter Edward Dandy studied abnormalities in the developing human brain in the United States in the twentieth century. He collaborated with pediatrician Kenneth Blackfan to provide the first clinical description of Dandy-Walker Syndrome, a congenital brain malformation in which the medial part of the brain, called the cerebellar vermis, is absent. Dandy also described the circulation of cerebral spinal fluid, the clear, watery fluid that surrounds and cushions the brain and spinal cord. That description led Dandy to examine how the impeded flow of cerebral spinal fluid caused congenital hydrocephalus, which occurs when fluid accumulates in the brain causes it to swell. Dandy discovered brain anomalies that primarily develop during embryonic development, and his work helped to detect brain abnormalities.

In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria. Mitochondria are organelles found outside of the nucleus in the watery part of the cell, called cytoplasm, of most complex cells (eukaryotes). Cann, Stoneking and Wilson collected mtDNA from 147 individuals from five different human geographical populations. Cann, Stoneking, and Wilson used mtDNA sequences to study the genetic differences and migration patterns of the human population through female inheritance. Mammals inherit mitochondria and mtDNA from their mothers through the egg cell (oocyte), and mitochondria are responsible for several maternally inherited diseases.

Rh incompatibility occurs when a pregnant woman whose blood type is Rh-negative is exposed to Rh-positive blood from her fetus, leading to the mother s development of Rh antibodies. These antibodies have the potential to cross the placenta and attach to fetal red blood cells, resulting in hemolysis, or destruction of the fetus 's red blood cells. This causes the fetus to become anemic, which can lead to hemolytic disease of the newborn. In severe cases, an intrauterine blood transfusion for the fetus may be required to correct the anemia.

Meiosis, the process by which sexually-reproducing organisms generate gametes (sex cells), is an essential precondition for the normal formation of the embryo. As sexually reproducing, diploid, multicellular eukaryotes, humans rely on meiosis to serve a number of important functions, including the promotion of genetic diversity and the creation of proper conditions for reproductive success. However, the primary function of meiosis is the reduction of the ploidy (number of chromosomes) of the gametes from diploid (2n, or two sets of 23 chromosomes) to haploid (1n or one set of 23 chromosomes). While parts of meiosis are similar to mitotic processes, the two systems of cellular division produce distinctly different outcomes. Problems during meiosis can stop embryonic development and sometimes cause spontaneous miscarriages, genetic errors, and birth defects such as Down syndrome.

Tooth enamel contains relics of its formation process, in the form of microstructures, which indicate the incremental way in which it forms. These microstructures, called cross-striations and striae of Retzius, develop as enamel-forming cells called ameloblasts, whcih cyclically deposit enamel on developing teeth in accordance with two different biological clocks. Cross-striations result from a twenty-four hour cycle, called a Circadian rhythm, in the enamel deposition process, while striae of Retzius have a longer periodicity. Unlike other tissues, enamel does not remodel after it forms, leaving those microstructures intact after deposition. Cross-striations and striae of Retzius thus provide evidence of the timing and processes of tooth development, and they indicate how organisms in a lineage differently grow and develop across generations. Researchers have examined those microstructures to investigate human evolution.

The principal work of St. Thomas Aquinas, the Summa Theologica is divided into three parts and is designed to instruct both beginners and experts in all matters of Christian Truth. It discusses topics central to Christian morality, ethics, law, and the life of Christ, providing philosophical and theological solutions to common arguments and questions surrounding the Christian faith. The views presented in this body of writing are currently upheld in large part by the modern doctrines of the Roman Catholic Church. Interesting references to and insights on ensoulment and embryology, as well as other topics discussed in Summa Theologica, indicate a strong Aristotelian and Augustinian influence.

Among his myriad scientific and artistic contributions, Leonardo da Vinci's work in embryology was groundbreaking. He observed and diagramed the previously undemonstrated position of the fetus in the womb with detailed accompanying annotations of his observations. Leonardo was highly paranoid of plagiarism and wrote all of his notes in mirror-like handwriting laden with his own codes, making his writing difficult to discern and delaying its impact. Although he carried out his studies in embryology from 1510-1512, it was not until the 1900s that his work was popularized among the scientific community. Leonardo's embryological annotations found in the third volume of his private notebooks represent his notable contributions to and explanations of human development and embryology.

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease. Gaucher's disease, described by the French dermatologist Philippe Gaucher in 1882, is a lipid storage disorder resulting in an excessive accumulation of lipids in the spleen, kidneys, liver, lungs, bone marrow, and brain. Niemann was able to connect the infant's disease to Gaucher's disease because it displayed similar symptoms: a noticeable accumulation of fatty substances in the brain, liver, and spleen.