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.

In 2002, after applying for government assistance in the state of Washington, Lydia Fairchild was told that her two children were not a genetic match with her and that therefore, biologically, she could not be their mother. Researchers later determined that the genetic mismatch was due to chimerism, a condition in which two genetically distinct cell lines are present in one body. The state accused Fairchild of fraud and filed a lawsuit against her. Following evidence from another case of chimerism documented in The New England Journal of Medicine in a woman named Karen Keegan, Fairchild was able to secure legal counsel and establish evidence of her biological maternity. A cervical swab eventually revealed Fairchild’s second distinct cell line, showing that she had not genetically matched her children because she was a chimera. Fairchild’s case was one of the first public accounts of chimerism and has been used as an example in subsequent discussions about the validity and reliability of DNA evidence in legal proceedings within the United States.

In June 2015, the Ethics Committee of the American Society for Reproductive Medicine, or ASRM, published “Use of reproductive technology for sex selection for nonmedical reasons” in Fertility and Sterility. In the report, the Committee presents arguments for and against the use of reproductive technology for sex selection for any reason besides avoiding sex-linked disorders, or genetic disorders that only affect a particular sex. When couples have no family history of a sex-linked disease, the use of reproductive technology for sex selection raises ethical questions about the application of sex selection technology to fulfill parental desires. “Use of reproductive technology for sex selection for nonmedical purposes” examines the ethical debate surrounding sex selection for nonmedical purposes and is an educational and ethical reference for physicians who are considering offering those services in their practices.

In 2014, Big Belli, a media and social networking brand, released a documentary called 40 Weeks online. The documentary, directed by Christopher Henze, followed multiple women during their pregnancies. The film predominantly features three women, though it includes the stories of many. Throughout the film, women detail their accounts of the physical and emotional changes that occur during pregnancy. 40 Weeks provides viewers with information about different aspects of pregnancy including the importance of nutrition and hydration, knowledge about safe medications, and the possible complications that can affect a pregnant woman and her fetus.

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo. The purpose of PGD is to identify what are considered to be abnormal embryos in order to select the most desirable embryos for implantation. Diagnosis is comprised of two steps: extraction of one or two cells from an IVF-produced embryo, and application of the PGD test. PGD is important to embryology because it has advanced IVF results and allowed couples more opportunities to deliver a child to term; however, it has also created much controversy.

Subscribe to genetic testing