Prenatal genetic testing has become an essential tool for expecting parents or those considering pregnancy. It provides valuable information about potential genetic risks, allowing parents to make informed decisions for their families.
BlackDoctor.org interviewed Sadie Dobrozsi, a board-certified pediatric oncologist and medical director of genetic testing and oncology imaging at Evolent—a top specialty and primary care management company—to explore what parents and expecting parents should know about prenatal genetic testing.
Prenatal genetic testing refers to a range of tests performed during pregnancy to identify potential genetic abnormalities in a fetus. These tests can detect conditions caused by genetic mutations, such as cystic fibrosis or sickle cell anemia. Early identification of these risks allows parents to plan and prepare for the potential challenges their child may face.
The most common form of prenatal genetic testing is carrier screening, which checks for genetic mutations in either parent that could be passed on to the child.
“This test is for any woman currently pregnant or considering pregnancy, as well as for any man who may be involved in the pregnancy. We can perform genetic testing for a range of known genes and diseases that are likely to cause specific illnesses in a baby. Often, we focus on diseases caused by recessive mutations, meaning both the sperm and egg need to carry a copy of the abnormal gene for the baby to develop the disease,” Dr. Dobrozsi shares.
If both parents carry a mutation for a specific condition, there is a higher risk that the child will develop the condition.
“The idea here is that you can screen one partner who intends to have a baby, and if that partner doesn’t carry any of those mutations, the baby won’t develop the disease. If one partner does have a mutation, the other partner would be tested to see if they also carry the mutation, which could then potentially develop into the disease. This is the least invasive and most common type of prenatal genetic testing, helping pregnant women or those considering pregnancy make informed decisions. Knowledge is power. It helps you understand the risk of a future baby—or the current one—developing a certain disease,” Dr. Dobrozsi adds.
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For couples undergoing in vitro fertilization (IVF), preimplantation genetic testing (PGT) offers an additional layer of genetic screening. In PGT, embryos are tested for specific genetic conditions before being implanted in the uterus. This process allows parents to select embryos that do not carry the genetic abnormality in question, reducing the risk of their child inheriting certain genetic disorders.
While PGT offers hope for many families, it is an invasive and expensive procedure. Currently, it is not typically covered by insurance, and accessibility remains limited. However, for families facing serious genetic risks, it can be a valuable tool in ensuring a healthier future for their children.
“The goal of this process is to have a baby who will not suffer from the genetic condition in question. This science is constantly evolving, but it’s generally not used for minor mutations like a single BRCA mutation. However, for more serious conditions, such as when both parents carry BRCA mutations, it becomes more significant. For example, two BRCA mutations can lead to Fanconi anemia, a severe condition where the child typically dies from cancers before reaching their teenage years,” Dr. Dobrozsi notes.
Prenatal genetic testing provides significant benefits to expecting parents. Knowledge of potential genetic risks empowers parents to make informed choices about their pregnancies. For some, it may inform decisions about whether to pursue IVF with genetic testing or explore other family planning options. For others, it may provide peace of mind, knowing that their child is less likely to develop a genetic condition.
“If a woman knows she carries a BRCA mutation before planning to become pregnant, she can take the first step of understanding her partner’s family history related to cancer. If the partner has a strong family history of BRCA-related cancers, they may also want to undergo testing. If the partner also carries a BRCA mutation, more complex decision-making around IVF and preimplantation genetic testing comes into play,” Dr. Dobrozsi says.
With the advancement of prenatal genetic testing come ethical considerations, particularly around accessibility and the selection of embryos.
“This process is very invasive, expensive, and often not covered by insurance. It’s considered an elective intervention, so it’s not widely accessible to the general public,” Dr. Dobrozsi says of preimplantation genetic testing.
Another ethical consideration is patient autonomy.
“Not everyone wants to know they have an increased risk of something, and that’s a very personal decision. My personal view is that more information is power, and I want to know so I can manage my risks. But that’s not the right answer for everyone,” Dr. Dobrozsi shares.
Once a genetic mutation is identified in a parent, questions often arise about whether to test their children.
“We only test children for genetic mutations that will impact them during childhood. There are two sides to this: bad news with a plan versus bad news without a plan,” Dr. Dobrozsi adds. “If there’s nothing you can do for a child with a BRCA mutation until they’re adults, what do you gain from knowing that information during childhood, other than increasing anxiety?”
Dr. Dobrozsi notes that children who might carry a BRCA mutation that won’t affect them until adulthood should be allowed to decide for themselves as adults whether they want that information.
The future of prenatal genetic testing looks promising, with ongoing advancements in technology. As the cost of testing decreases and more conditions are identified, prenatal testing will become even more comprehensive and accessible. Genetic tests are also being developed to detect early signs of cancer and other diseases in utero, further expanding the potential of prenatal care.
Although preimplantation genetic testing remains a complex and costly process, ongoing research aims to make it more accessible and accurate. As these technologies evolve, they will continue to empower families to make informed decisions about their future children’s health.
Feeling anxious about how your results may impact your child is perfectly normal. “There’s a lot of education that goes into this. Parents need to work with providers who truly understand the health implications of specific gene mutations. For some children, this might mean additional testing or screening, but only if it’s appropriate for childhood,” Dr. Dobrozsi advises.
There are also specialized clinics across the country for pediatric cancer predisposition syndromes, where you can receive the appropriate guidance.
“Accessing these clinics is ideal, but I understand it’s not always feasible. For families without access to these clinics, seeing a genetic counselor at an adult cancer center can at least be a bridge to making informed decisions,” Dr. Dobrozsi concludes.
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