Prenatal genetic testing has existed since the 1970s. In the 1990s, non-invasive testing became available, and significant scientific gains were made. Now, doctors can screen for hundreds of genetic disorders and possibly treat them in the womb.
As genetic research has exponentially grown over the last few decades, scientists have been able to identify genetic variances and disorders more precisely while a baby is in utero. This screening now comes with little or no risk to the mother and fetus. And for some of these disorders, early intervention can eliminate or significantly reduce the impact on the child’s life.
New Research Shows A Growing List Of Genetic Disorders That Can Be Diagnosed
Recently, the American Journal of Human Genetics, published an article showing that researchers “have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born.”
Researchers at Mass General Brigham, Harvard Medical School, and Duke University School of Medicine conducted the study. Combining family history, ultrasounds, and genetic testing allows doctors to screen and possibly identify birth defects and genetic disorders. These disorders and conditions often affect the baby’s long-term health and quality of life.
Nina Could, MD, senior author and director of Prenatal Genetics at Mass General Brigham, states that researchers saw a gap between prenatal care and treatable genetic disorders. She also states that “these conditions are actionable—meaning that, empowered with diagnostic information, we can intervene early and improve outcomes.”
While the study’s goal was to increase information and options for expectant parents, some question whether screening/testing is beneficial or ethical.
Is Prenatal Genetic Testing Ethical?
For thousands of years, babies entered the world, and their parents knew nothing about them. Now, with bloodwork, scans, and genetic counseling, determining a baby’s gender is considered standard and old news. With medical advancements, parents are now able to screen their children for gender, birth defects, genetic disorders, and even physical attributes such as eye color.
The basis of genetic testing is to inform expectant parents of any possible life-altering conditions and, if applicable, treat those conditions in utero or as soon after birth as possible. However, screening is not a guarantee of diagnosis, and there are cases of both false positives and negatives.
Genetic testing isn’t just for those who have already conceived. Preimplantation genetic diagnosis (PGD) is now widely used in patients who undergo IVF (in vitro fertilization treatment) to conceive. This testing not only allows parents to screen for possible diagnoses but also edit or modify certain genes prior to implantation.
Genetic ethicists worry that this testing and ideas could lead to possible genetic discrimination and thoughts of ‘designer babies’ that are formulated to fit a family’s specific expectations. Also, the overwhelming amount of information given to expectant parents can cause unnecessary anxiety and stress. Sometimes parents are faced with a decision to terminate the pregnancy.
Benefits Of Prenatal Genetic Testing
The latest data shows that “a total of 296 genetic conditions” are now treatable in the womb or immediately after birth with little to no harm to mom and baby. Testing can also uncover low-risk conditions that can be easily treated and managed once the baby is born.
Testing for rare genetic disorders in utero is often only performed if a family member or sibling has been tested or diagnosed with a disorder. In these cases, early detection leads to early intervention, which can significantly reduce the physical impact on the fetus and possibly be life-saving.
Before deciding about prenatal genetic testing, parents must know and understand the difference between genetic screening and diagnostic testing. It is always advised to speak with your provider and genetic counselor about possible risk factors and outcomes.