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.

Fortunio Liceti studied natural philosophy and medicine in Italy during the first half of the seventeenth century. Liceti wrote greater than seventy works on a wide range of topics, including the human soul, reproduction, and birth defects observed in animals and human infants. In the seventeenth century, people commonly addressed birth defects using superstition and considered them as signs of evil, possibly caused by spiritual or supernatural entities. Liceti described infants with birth defects as prodigies and monsters to be admired and studied rather than feared. Liceti’s works established monsters as a possible subject of scientific inquiry and served as models for the future study of birth defects, a field later called teratology. Liceti was one of the first scholars to attempt to systematically categorize birth defects based on their causes, including multiple causes unrelated to the supernatural.

Isidore Geoffroy Saint-Hilaire studied anatomy and congenital abnormalities in humans and other animals in nineteenth century France. Under the tutelage of his father, Etienne Geoffroy Saint-Hilaire, Isidore compiled and built on his father's studies of individuals with developmental malformations, then called monstrosities. In 1832, Isidore published Histoire generale et particuliere des anomalies de l'organisation chez l'homme et les animaux (General and Particular History of Structural Monstrosities in Man and Animals), in which he defined the term teratology as the study of birth defects and deformities. Isidore Geoffroy Saint-Hilaire established teratology as a legitimate branch of scientific study.

Truman William Brophy developed a cleft palate surgical repair, later called the Brophy Operation, in the late nineteenth century US. The procedure improved facial aesthetics and speech in cleft palate patients. A cleft palate occurs during development when the palatal bones in the roof of the mouth don't completely fuse, leaving an opening, or cleft, in the upper lip and mouth. Brophy's cleft repair used compression inside and outside of the mouth to push the palatal bones into normal alignment shortly after birth. Brophy advocated surgery on newborns with cleft palates as soon as possible after birth, which met with opposition in the late nineteenth and early twentieth centuries when medical professionals did not operate on infants for non-life threatening conditions. However, Brophy's successful operations convinced many doctors to adopt his technique.

In 1980, Ernesto Ippolito and Ignacio Ponseti published their results on a histological study they performed on congenital club foot in human fetuses. The researchers examined the feet of four aborted fetuses and compared the skeletal tissues from healthy feet to those affected by congenital club foot. Infants born with club foot are born with one or both feet rigidly twisted inwards and upwards, making typical movement painful and challenging. Ippolito and Ponseti studied how the connective tissues, such as the ligaments and tendons stretching across the foot and ankle, function to pull the affected foot out of place as the fetus develops. Their findings helped researchers determine club foot’s potential causes and possible treatments by focusing on connective tissues.

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.

Josef Warkany studied the environmental causes of birth defects in the United States in the twentieth century. Warkany was one of the first researchers to show that factors in the environment could cause birth defects, and he helped to develop guidelines for the field of teratology, the study of birth defects. Prior to Warkany’s work, scientists struggled to explain if or how environmental agents could cause birth defects. Warkany demonstrated that a deficiency or excess of vitamin A in maternal nutrition could cause birth defects. He also established that mercury in teething powders increased infant mortality rates. Warkany showed how substances outside the human body could adversely affect conception, growth, and development of the human fetus in utero.

In its 1993 decision Daubert v. Merrell Dow Pharmaceuticals, Inc., the US Supreme Court established the Daubert Standard for evaluating the admissibility of scientific knowledge as evidence in US federal courts. When it began in trial court, the case addressed whether or not Bendectin, an anti-nausea medication taken during pregnancy, caused birth defects. However, after the trial court dismissed the case for lack of admissible evidence, Daubert v. Merrell Dow Pharmaceuticals, Inc. advanced through appeals courts to the US Supreme Court, where the Justices defined the criteria by which scientific knowledge, which for them included a least theories based on evidence, expert testimony from scientists, and scientific techniques, could be introduced and used in court cases as evidence. The Daubert Standard states that the judge of a case is responsible for determining what claims are admissible as scientific knowledge and as evidence in the case. The admissibility should be determined by the falsifiability of the claims, by whether or not they had passed peer reviewed, by the general scientific acceptance of the claims, and for techniques, by their error rates of the techniques. Daubert v. Merrell Dow Pharmaceuticals, Inc. set a landmark precedent in the US judicial system and influenced most subsequent legal cases that appealed to science to establish facts in trials.

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.