In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes. Lo’s team published their results in 1997’s “Presence of Fetal DNA in Maternal Plasma and Serum.” The results led to developments of clinical tests that can access fetal genetic information and detect genetic abnormalities before birth without the significant risks that can potentially harm the fetus associated with invasive genetic testing techniques.

Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics. Reed educated patients about how certain genetically transmitted traits could adversely affect their offspring and provided options for remedying those effects.


Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy, by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to three trisomies, trisomy twenty-one known as Down syndrome, trisomy eighteen known as Edwards Syndrome, and trisomy thirteen known as Patau Syndrome. Prior to the ability to detect fetal DNA in a pregnant woman’s blood, physicians performed amniocentesis or chorionic villus sampling, two techniques that increase the risk of spontaneous abortion. Noninvasive detection of trisomy twenty-one, eighteen, and thirteen technology allows for a more accurate and safer detection of those conditions than methods available before.

Audrey Heimler and colleagues founded the National Society of Genetic Counselors (NSGC) in 1979 in New Hyde Park in New York, New York. Her stated goals were to establish the field of genetic counseling within biomedicine and to coordinate counselors’ voices, so that physicians and others in the medical industry would not dictate the future of the field. Genetic counselors inform patients about the potential for inherited diseases passed on through family lineages and help to navigate the options available. NSGC helped establish the field of genetic counseling by formulating guidelines for accreditation in university programs, establishing curriculum for continuing education of members, and creating committees to respond to issues that pertain to genetic disorders and the way they are presented to patients. As scientists continue to research the human genome, particularly in the area of prenatal genetics, an area of medicine that allows physicians to diagnose the health of the fetus prior to birth, genetic counseling is an established field in reproductive medicine.

Subscribe to Cassidy Possehl