Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003. Afterwards, Cantor became the chief scientific officer for Sequenom Inc., a company that provided non-invasive prenatal genetic testing. Such tests use a pregnant woman's blood to identify genetic mutations in a fetus during the first trimester of pregnancy.

Dennis Lo, also called Yuk Ming Dennis Lo, is a professor at the Chinese University of Hong Kong in Hong Kong, China. In 1997, Lo discovered fetal DNA in maternal plasma, which is the liquid component of a pregnant woman's blood. By 2002, Lo distinguished the DNA differences between pregnant women and their fetuses, enabling scientists to identify fetal DNA in pregnant women's blood. Lo used his discoveries to develop several non-invasive and prenatal genetic tests, including tests for blood group status and Trisomy 21, also called Down's Syndrome. Lo's discovery of fetal DNA in maternal plasma lessened the risks to pregnant women and fetuses during prenatal testing, and it enabled early identification of potential genetic mutations in developing fetuses.

Diana W. Bianchi studied the medical treatment of premature and newborn infants in the US during the twentieth and twenty-first centuries. Bianchi helped develop non-invasive prenatal genetic tests that use cell-free fetal DNA found within maternal blood to diagnose genetic abnormalities of the fetus during pregnancy. The test provides a means to test fetuses for chromosomal and genetic abnormalities.

Endoscopic fetoscopy is a minimally invasive surgical procedure performed during pregnancy that allows physicians to view the fetus in-utero. Physicians use endoscopic fetoscopy to evaluate, diagnose, and treat fetal abnormalities. Physicians use an endoscope, or a thin, flexible surgical device with a light attached to its end, to perform endoscopic fetoscopy procedures. In 1954, Björn Westin performed the first endoscopic fetoscopy in Sweden. Since Westin’s initial development of the procedure, interest in endoscopic fetoscopy has grown throughout the early part of the twenty-first century. In addition, the use of endoscopy has expanded beyond fetal medicine and has been introduced to other fields of medicine such as general surgery. Endoscopic fetoscopy allows surgeons to diagnose and correct fetal abnormalities that would otherwise result in fetal death before delivery or in lifelong impairment if treatment were delayed until after delivery.

In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts. Because small amounts of fetal DNA appear in maternal blood during pregnancy, Lo and his team hypothesized that they could detect fetal chromosomal aneuploidy trisomy 21, or Down’s syndrome, in a sample of maternal blood. The group diagnosed Down’s syndrome in unborn fetuses by first taking a maternal blood sample, then amplifying the small amounts of fetal DNA in the maternal blood using digital PCR, and applying two genetic methods to that sample. Lo and his colleagues’ experiment demonstrated the accuracy of a novel, noninvasive method for fetal chromosomal aneuploidy testing that can enable people to make informed decisions about their pregnancies.

During the twentieth century, Thomas Raphael Verny studied the way that environment affects a developing fetus’s character and psychological development. Verny studied the concept of memory before birth and covered both the prenatal and perinatal periods, meaning the time the fetus is in the womb and the weeks immediately before or after birth, respectively. During those times, Verny claimed that patterns of maternal attitudes and experiences, such as affection and stress-related emotions, impact the development of the child. Published in 1981, Verny’s book The Secret Life of the Unborn Child presented novel ideas about how pregnant women’s emotional health impacts the psychological, emotional, and physical development of their fetuses, sparking discussion about the importance of maternal emotional health during prenatal development.

On 1 February 1998, David T. Helm, Sara Miranda, and Naomi Angoff Chedd published “Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth,” hereafter “Mothers’ Reflections,” in the journal Mental Retardation. In 2007, Mental Retardation changed its name to Intellectual and Developmental Disabilities. Down syndrome is the result of an extra copy or partial copy of chromosome 21, also known as Trisomy 21. It is characterized by traits such as intellectual disabilities, differing facial features, and a high risk for heart disease. In the study, the authors interviewed ten mothers, all of whom had elected to continue with their pregnancy after a prenatal diagnosis of Down syndrome, about their experiences with health care professionals. The article provides suggestions for health care professionals, such as providing up-to-date materials and unbiased information and avoiding judgmental language, so that when mothers receive a prenatal diagnosis of a developmental disability, they are prepared and supported.