COMMENTARY

Surprising Cancer Diagnosis After Noninvasive Prenatal Genetic Test

Eunice S. Lee, MD

Disclosures

May 12, 2015

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I'm Eunice Lee, here at the Future of Genomic Medicine Conference VIII in La Jolla, California. I am a practicing anesthesiologist in Santa Barbara, California. The reason that I was invited to speak at this conference was that I was diagnosed with cancer during my pregnancy.

I have a 3-year-old daughter and I was pregnant with my second child. At 10 weeks of pregnancy my obstetrician recommended that I undergo a fetal screening test called the MaterniT21® PLUS (Sequenom Laboratories). The reason that I had the test was that I was of advanced maternal age (being 40 years old) and we wanted to screen for fetal chromosomal abnormalities.

So I took the test. It was a simple blood test at 10 weeks. Two weeks later, I went to my obstetrician's office to receive the results of that test. The results came back as nonreportable. I still remember my obstetrician walking into the office, holding this sheet of paper in her hand, saying that she had received a nonreportable result and didn't know what to make of it, because she had never received a result like this before.

We probably would have written it off as a laboratory error, but the head of Sequenom (the laboratory), whose name is Dr Dharajiya had actually spoken to my obstetrician over the phone and told her that this was a concerning result and that I might need to be worked up for cancer. This was not something that I was expecting to hear, nor was my obstetrician. But fortunately for me, I was able to speak to Dr Dharajiya over the phone directly. I asked him about the significance of the nonreportable result and how the test worked.

He explained the test to me. It counts the number of chromosomes in your bloodstream. Apparently, 10% of the circulating chromosomes in a mother's bloodstream come from the fetus. They count the total number of chromosomes and are able to detect any missing or extra chromosomes in that fashion. In my case, they couldn't get any kind of read on the field chromosome pattern because there were so many extra deletions and additions, presumably from the maternal side.

I asked him what he thought I should do and I also spoke to my obstetrician. We decided that I should probably have some further testing. My obstetrician scheduled me for an MRI of the chest, abdomen, and pelvis. That happened at 15 weeks of pregnancy, and I remember going to the MRI scanner thinking that this is a very interesting experience. I had never had an MRI before and I left not knowing what the results of the MRI would be.

When she received the results, my obstetrician called me and said that there was a problem, that there was something on the MRI. I asked what that was and she told me that there was a 7-cm mass in my sigmoid colon. In the state of shock that I was in, my first question was, "Is this something that can wait until after my baby is born?" She said, "No; if we wait too long, it would likely perforate." I needed to have surgery as soon as possible to remove the tumor.

Later on that same day, I found myself in the hospital where I worked as a patient, dressed in a gown, getting my intravenous line placed. I was wheeled into the operating room and, very fortunately for me, I had a very talented surgeon who resected the tumor, performing a low-entry resection laparoscopically without any complications. I thought this was especially impressive, given the fact that I was 15 weeks pregnant at the time and my uterus was larger than normal.

He still was able to perform the surgery laparoscopically and also remove 49 lymph nodes, which turned out to be negative for cancer. I felt extremely fortunate that none of the lymph nodes were positive. Something that was concerning to me, still, after the surgery was that on the initial MRI there were four lesions on my liver. At that time, it wasn't clear whether these were benign lesions (such as hemangiomas) or whether they were metastases, because colon cancer tends to metastasize to the liver.

I had a follow-up ultrasound done, and on the ultrasound two of the lesions appeared to be benign hemangiomas, but one of the larger ones was not consistent with hemangioma. So then my question was, what is it? Is it a metastatic tumor? I had discussions with my oncologist, my obstetrician, and my maternal-fetal medicine practitioner, and we came to the conclusion that all of my lymph nodes were negative. The tumor was sent for oncogene testing and was found to have a benign marker. Moreover, it was a well-differentiated, not a poorly differentiated, adenocarcinoma. The former tend to be a little bit better behaved. We were not going to do any kind of chemotherapy while I was pregnant, and if we were going to do chemotherapy, it could wait until after the delivery of my child.

When I was about 7 months pregnant, I decided to repeat the MaterniT21 test for my own peace of mind. I was curious as to whether I still had any circulating tumor DNA in my system. Prior to this, I spoke again with Dr Dharajiya from Sequenom. I asked him whether anyone had ever done this before following a diagnosis of cancer. His response was no. Apparently, a very small number of women have ever been found to have a nonreportable result. At the time, the test had been in existence for about 1.5 years. They had processed 250,000 samples and of those, only 32 were found to be nonreportable. Of those 32, on follow-up, 19 women were found to have some kind of tumor, whether benign or malignant. Ten of those women had uterine fibroids and the remaining 9 had cancer of the colon, breast, or lymphoma. None of those women had repeated the test, so there was no information about how specific or sensitive it was in detecting remaining tumor cells after somebody had been treated, primarily for cancer.

I thought it would be an interesting experiment to repeat the test and see what it showed. I repeated the blood draw; reassuringly, the test came back normal this time, with a chromosomal profile of 46 XY for the baby. Then, on November 24, 2014, I gave birth to a healthy baby boy weighing 6 lb, 11 oz. After he was born, I had a follow-up MRI, this time with contrast. They couldn't give me contrast previously because I was pregnant. It showed that I had no lymphadenopathy, no physical evidence detectable by MRI of a tumor, and that the lesions in my liver appeared to be benign hemangiomas. That was the best news I could have received at that time.

I feel extremely fortunate that I'm living in a day and age when we have the technology to be able to learn things about unborn children that also can reveal important information, although unintended, about my own health.

Taking this test at 10 weeks of pregnancy could very likely have saved my life and the life of my unborn child. If I had not had the test, the symptoms that I was feeling—the nausea, the constipation, the daily fatigue—might have been written off as first-trimester pregnancy symptoms. If they hadn't gone away at the end of the first trimester, I could have just gone on thinking, "Oh, I'm 40 years old. This is a different pregnancy. Some women are just nauseated and constipated during their entire pregnancies." It could very well have happened that I wouldn't have been diagnosed with colon cancer until I perforated. That would have been disastrous for both me and my unborn child.

To any women who take this test and receive a nonreportable result, don't sit on it. Talk to your obstetrician and persist in finding out what it means. If you are of advanced maternal age, don't be afraid, but understand that the test can reveal something about your own health that you might not be expecting. To the obstetricians who are practicing, I would say that if you have patients who have a result that is either nonreportable or different in any way, don't ignore it. You need to find out why the test came back as nonreportable, because in my case, there was definitely something that was causing the test to come back as abnormal.

My baby, and the test, saved my life. I probably wouldn't be sitting here today if I hadn't taken the test.

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