In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease. Tay shares the disease's title with New York neurologist Bernard Sachs, who described the cellular changes present in the disease as well as its potential for heritability, shortly after Tay's observation. Sachs also noted the higher occurrence of the disease in Jews of eastern and central European descent as well as the typical pattern of the disease, including early blindness, severe retardation, and death in early childhood.

Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen. When mitochondria fail to fulfill those functions properly in the cell, many different maladies, including death, can occur. Humans inherit mitochondria from the mother through the egg cell, and all the mtDNA molecules in a person are identical to each other. But the mutation rate is much higher in the mtDNA than in nuclear DNA, and some individuals may have more than one type of mtDNA. As egg cells develop, they divide via a process called meiosis. As egg cells divide, mitochondria of different types can randomly segregate in some new cells but not in others. As a result, two offspring from the same female might differ in their types of mitochondria. Random amounts of the two mitochondria types can lead to some offspring inheriting a mitochondrial disease or developmental abnormalities while others are normal.

In 2011, fetal researcher Vivette Glover published “Annual Research Review: Prenatal Stress and the Origins of Psychopathology: An Evolutionary Perspective,” hereafter, “Prenatal Stress and the Origins of Psychopathology,” in the Journal of Child Psychology and Psychiatry. In that article, Glover explained how an evolutionary perspective may be useful in understanding the effects of fetal programming. Fetal programming is a hypothesis that attempts to explain how factors during pregnancy can affect fetuses after birth. Researchers associate exposure to prenatal stress, or stress experienced before birth, with an increased likelihood of some mental disorders. Glover states that such outcomes may be traced back to a fetus’s response to stress during pregnancy, and that those outcomes may have been beneficial in the past. By taking an evolutionary approach toward understanding mental disorders, Glover provided insights for studying the lasting effects of maternal stress during pregnancy on children’s mental health.

In 2009, A. John Henderson and colleagues published “Mothers’ Anxiety During Pregnancy Is Associated with Asthma in Their Children,” hereafter, “Mothers’ Anxiety,” in The Journal of Allergy and Clinical Immunology. Previous studies had shown that maternal stress during pregnancy affects children’s health during childhood. The researchers explored the association of asthma in children with maternal anxiety during pregnancy. The cause of asthma is often unknown. Thus, the researchers tested the possibility that maternal anxiety may increase disease risk in the children, particularly the development of asthma. The authors reported a positive association between maternal anxiety during pregnancy and asthma in offspring, indicating the possibility of a causal relationship. The authors’ findings demonstrated the health effects of maternal stress during pregnancy on children’s physiological and immune development.

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.

Maternal consumption of alcohol (ethanol) during pregnancy can inhibit prenatal growth, resulting in fetuses that are small for gestational age. Those prenatal growth deficiencies can have lasting consequences for early childhood development and are often reflected by low weight and stature. Those alcohol-induced pre- and post-natal growth deficiencies ("failure to thrive") are among the abnormal developmental criteria used to identify Fetal Alcohol Syndrome (FAS). FAS is characterized by minor facial abnormalities and deficiencies of the central nervous system as well. A deficiency in prenatal growth is often referred to as an intrauterine growth restriction (IUGR), a general term that refers to stunted fetal growth that may be a result of genetic or environmental factors.

Embryogenesis is an intricate process that can easily be disrupted by means of teratogenic agents. Some of these agents target the embryonic period's "window of susceptibility," three to eight weeks after a pregnant woman's last menstruation, when the highest degree of sensitivity to embryonic cell differentiation and organ formation occurs. The embryonic period or critical period is when most organ systems form, whereas the fetal period, week eight to birth, involves the growth and modeling of the organ systems. During the window of susceptibility, teratogens such as thalidomide can severely damage critical milestones of embryonic development.

Teratomas are embryonal tumors that normally arise from germ cells and are typically benign. They are defined as being composed either of tissues that are foreign to the area in which they form, or of tissues that derive from all three of the germ layers. Malignant teratomas are known as teratocarcinomas; these cancerous growths have played a pivotal role in the discovery of stem cells. "Teratoma" is Greek for "monstrous tumor"; these tumors were so named because they sometimes contain hair, teeth, bone, neurons, and even eyes. Teratomas have been medical curiosities for centuries, though it wasn't until the 1960s that significant research into mice teratomas elucidated not only what these strange growths were, but also how germinal cells should normally function.

John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.

Gestational diabetes is a medical condition that causes blood sugar levels to become abnormally high, which manifests for the first-time during pregnancy and typically disappears immediately after birth for around ninety percent of affected women. While many women with the condition do not experience any noticeable symptoms, some may experience increased thirst and urination. Although gestational diabetes is treatable, if left unmanaged, the resulting fetus is more likely to have elevated risks of increased birth weight, birth injuries, low blood sugar, stillbirth, and later development of type 2 diabetes. The International Diabetes Federation estimates that worldwide in 2019, gestational diabetes affected one in six pregnant women, with many cases occurring in women living in low and middle-income countries. Despite the prevalence and risks associated with gestational diabetes, as of 2020, researchers have yet to reach a unified consensus on the best guidelines for diagnosis and treatment.