Non-invasive Prenatal Testing Leads to Discovery of Rare, Treatable Cancer
Aside from the typical excitement and uncertainty that comes during the first few weeks of pregnancy for newly-expectant mothers, there are many decisions to be made for expecting parents when choosing how much information they want to know in regards to the health of the developing baby. For many years, professional guidelines have recommended that all women be offered the option of prenatal screening to detect some chromosome differences.
In 2012, a new technology was introduced in the prenatal screening field that allows for earlier screening, improved detection rates, lower false positive rates, and more comprehensive testing. This type of prenatal screening is known as non-invasive prenatal testing (NIPT) and analyzes DNA released from the placenta into the mother’s blood for some common genetic conditions like those involving a missing or extra chromosome. As it is a simple blood draw, this test is considered “non-invasive” when compared to diagnostic tests, such as amniocentesis, which have a risk of miscarriage.
Victoria, BC, resident, Jessica Matwick, was just eight weeks pregnant when she decided that the Panorama™ NIPT was the best screening option for her. As a nurse in the neonatal Intensive Care Unit, Jessica was familiar with the risks and complications involved in pregnancy and wanted as much information as she could get about her pregnancy. Her doctor requested the screen from LifeLabs when Jessica was nine weeks along, not realizing at the time that Panorama was the only NIPT technology that screened for triploidy, a rare and often lethal chromosomal abnormality in the fetus.
The Panorama NIPT came back as high risk for vanishing twin or triploidy. This type of results potentially meant that Jessica had either been pregnant with twins (and lost one of the babies) or, in the case of triploidy, that the fetus had three copies of each chromosome instead of two. Given that there was no evidence that Jessica had ever been pregnant with twins, her family doctor took this result to mean that she was at high risk for triploidy.
A rare genetic condition that occurs in 1 in 1,000 pregnancies, triploidy often results in miscarriage or stillbirth. “My doctor said that it was the worst result you can receive in a screen,” says Jessica. “These types of pregnancies are why many women have miscarriages, but my body did not respond that way; it didn’t naturally miscarry when it should have.”
Jessica’s doctor ordered an ultrasound and it was discovered that at 13 weeks, there was no fetal heartbeat. “Despite the heartbreaking news, I was relieved that I didn’t have to make any decisions,” she recalls. “I had all the information that I needed.”
As Panorama is a screen, it is recommended that high risk NIPT results are confirmed with a diagnostic test, such as amniocentesis. However, with Jessica having miscarried and because the Panorama screen showed an increased risk of triploidy which could be associated with maternal complications, the health care team did not want to wait for diagnostic testing or for the fetus to pass naturally. During her resulting operation, Jessica was told that there was abnormally behaving tissue from the fetus that would need to be removed immediately.
After the procedure, Jessica was prepared to start trying again for another baby. However, she was told by her health care team that the abnormal tissue had become cancerous and could begin growing tumours in her uterus. The diagnosis was gestational trophoblastic neoplasia (GTN), a form of cancer that could spread quickly in the body from the uterus into the liver, lungs, and brain. GTN also happens to be a risk factor for women who carry pregnancies with triploidy. Being able to catch it early was the best case scenario as the disease responds very well to traditional chemotherapy.
“If I had never taken the Panorama test in the first place, I would have never known that I was at risk,” says Jessica. “We were lucky to have been able to catch the cancer before it spread too quickly.”
After three months of chemotherapy, it appeared that the cancer was in remission. In May 2018, after being six months clear of chemotherapy she was given the go-ahead to start trying again for a baby. At that time, Jessica contacted LifeLabs to discuss whether she would be covered for another Panorama test for her next pregnancy.
“I highly recommend Panorama to anyone who is pregnant and wants to optimize the detection of genetic conditions using a non-invasive prenatal screen” says Kate Gardiner, the genetic counsellor from LifeLabs that Jessica spoke to. “One of the significant improvements to the prenatal field has been expanding what we are able to screen for, like these rare conditions such as triploidy, which made a huge impact for Jessica in terms of her own medical management and future pregnancy planning. It also helps to provide closure to some women wondering why they miscarried”
Thanks to the timely care she received, Jessica has been able to resume her work and educational pursuits. “I’m a nurse and I work every day with babies, yet I’d never heard about this condition before,” reflects Jessica. “Now, I may have an increased risk of triploidy reappearing in a subsequent pregnancy, so I have reached out to LifeLabs to be proactive. We’re trying for a baby again, so I want to do as much as possible to take charge of my health and the health of my future pregnancies.”
About LifeLabs: LifeLabs is Canada’s leading provider of laboratory diagnostic information and digital health connectivity systems enabling patients and healthcare practitioners to diagnose, treat, monitor, and prevent disease. We support 20 million patient visits annually and conduct over 100 million laboratory tests through leading edge technologies and our 5,700 talented and dedicated employees. We are a committed innovator in supporting Canadians to live healthier lives, operating Canada's first commercial genetics lab and the country's largest online patient portal, with more than 2.5 million Canadians receiving their results online. LifeLabs is 100% Canadian owned by OMERS Infrastructure, the infrastructure investment manager of one of Canada’s largest defined benefit pension plans. Learn more at www.lifelabs.com
LifeLabs, Senior Communications Specialist