Noninvasive prenatal fetal testing used to detect early stage cancer in mothers for the first time.


Non-invasive prenatal testing (NIPT) for chromosomal foetal disorders is used increasingly to test for conditions such as Down’s syndrome. NIPT examines DNA from the foetus in the mother’s blood, and therefore does not carry the risk of miscarriage involved in invasive testing methods. Now, for the first time, researchers have found another advantage of NIPT; it can detect maternal cancers at an early stage, before symptoms appear. The opensource study was presented to the annual conference of the European Society of Human Genetics and is published in the journal JAMA Oncology.

The team from KU Leuven had set out to increase the accuracy of the NIPT test in order to overcome some of the technical problems that can cause it to come up with false negative or false positive results when screening for chromosomal disorders in the foetus. The researchers state that Down’s, or trisomy 21, is the most frequent chromosomal abnormality, and occurs in about one in 700 live-born babies. The risk of giving birth to a baby with Down’s increases with the age of the mother, and rises sharply from the age of 36 years.  They therefore felt it important to improved the accuracy of the test.

Using the new, adapted test in over 6000 pregnancies, and looking at other chromosomes, the team identified three different genomic abnormalities in three women that could not be linked to either the maternal or foetal genomic profile. The group realised that the abnormalities bore a resemblance to those found in cancer, and referred the women to the oncology unit.

Further examination, including whole body MRI scanning and pathological and genetic investigations, revealed the presence of three different early stage cancers in the women, an ovarian carcinoma, a follicular lymphoma, and Hodgkin’s lymphoma. Although this incidence is within the range to be expected in the normal population (one per 1000-2000 person years in women aged 20 – 40), without NIPT these cancers would have been unlikely to have been detected until they became symptomatic, and therefore at a much later stage.

The team state that considering the bad prognosis of some cancers when detected later, and given that they know that it is both possible and safe to treat the disease during pregnancy, this is an important added advantage of NIPT.  They go on to explain that during pregnancy, cancer-related symptoms may well be masked; fatigue, nausea, abdominal pain, and vaginal blood loss are easily interpretable as a normal part of being pregnant. NIPT offers an opportunity for the accurate screening of high risk women for cancer, allowing us to overcome the challenge of early diagnosis in pregnant women.

In the current study two out of the three diagnosed women were treated, one of them during her pregnancy. She subsequently gave birth to a healthy girl. The third had indolent disease that was not considered to be in need of treatment at that stage. Follow-up investigations in the treated women showed that NIPT had the additional advantage of allowing the effectiveness of treatment to be monitored, and the researchers were able to see that the chromosomal profiles became normal during and after chemotherapy.

The results suggest that NIPT might enable the detection of pre-symptomatic cancers not just in pregnant women, but more widely.  The team state that the medical community now know that it is possible to offer the accurate detection of chromosomally imbalanced cancers to the general population via minimally invasive screening methods.

The researchers surmise that the normalisation of the NIPT profile in these patients following treatment indicates that the medical community can also measure response to treatment as early as after the first administration of chemotherapy. Of course, larger scale studies will be required to validate these results further, however, the researchers say they are confident that they have made an important step towards the possibility of wide-scale, effective, non-invasive cancer screening capable of detecting disease at an early stage.

Source:  KU Leuven

Whole-Body Diffusion-Weighted Magnetic Resonance Images.  A, Ovarian carcinoma in patient 1. B, Follicular lymphoma in patient 2. C and D, Hodgkin lymphoma before (C) and after (D) treatment in patient 3. The arrowheads in all panels point to the tumor locations. D, Arrowheads point to areas of treatment response (complete remission).  Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.  Vermeesch et al 2015.

Whole-Body Diffusion-Weighted Magnetic Resonance Images. A, Ovarian carcinoma in patient 1. B, Follicular lymphoma in patient 2. C and D, Hodgkin lymphoma before (C) and after (D) treatment in patient 3. The arrowheads in all panels point to the tumor locations. D, Arrowheads point to areas of treatment response (complete remission). Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing. Vermeesch et al 2015.

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