# data[].attributes.attachment_link.title
Places to go around Cardiff | Lets Go With The Children

# data[].attributes.attachment_link.description
All of the best places to go and things to do with the kids around Cardiff. All you need to plan a great family day out.

# data[].attributes.attachment_link.title
NIPT - new and more sensitive genetic test lowers risk of miscarriage

# data[].attributes.body
Cell-free fetal DNA is fetal DNA which circulates freely in the maternal blood. Maternal blood is sampled by venipuncture. Analysis of cffDNA is a method of non-invasive prenatal diagnosis

# data[].attributes.headline
Cutting edge NIPT genetic test now available for pregnant women in Wales 

# data[].attributes.subject
Cutting edge NIPT genetic test now available for pregnant women in Wales 

# data[].attributes.attachment_link.readable_text
Pregnant women in Wales are to become the first in the UK to receive a non-invasive test for Down's syndrome.

The NHS blood test, available from Monday, is said to be safer and more accurate than existing screenings for Down's, Edward's and Patau's syndromes.

It will be offered to women with a higher chance of identifying the syndromes in the first three months of pregnancy.

But some people have raised concerns it could lead to more terminations.

The Non-invasive Prenatal Testing (NIPT) test will be offered as an alternative to the invasive amniocentesis test currently available, which carries a small risk of miscarriage.

The Welsh Government said it was expected the introduction of the new test would reduce this risk, as fewer invasive tests would be needed.

The new test will not offer a complete diagnosis, as only the invasive test can confirm the syndrome, but aims to better inform women of the risks of having a child with the genetic disorder.

Women who are given a positive NIPT test would not be able to opt for a termination based on that result alone.

Health Secretary Vaughan Gething said: "Our antenatal screening programme plays an important role in providing expectant mothers with the information and support they need throughout their pregnancy.

"I'm pleased Wales is leading the way by offering NIPT as part of our programme."

Helen Rogers, the Royal College of Midwives' director for Wales, welcomed the test.

She added: "Screening is always an individual choice for women and their partners and midwives in Wales have undergone additional training so they can share clear information on this non-invasive test with women which will support them in their decision making and to make the right choice for them."

But some campaigners, including the movement Don't Screen Us Out, are concerned the test could lead to more terminations and negatively impact the Down's syndrome community.

Kate Harris, 41, from Barry, Vale of Glamorgan, whose 12-year-old son James has Down's syndrome said: "Currently, you would be told that there are all these different medical negatives [associated with Down's syndrome] that you could get and you would be advised to seek advice from professionals who ultimately do also advise in terms of termination.

"What we'd like to see is that whilst that body that advises still has a place, there is a very big gap that should be filled by people living the truth, that is living with a child with Down's syndrome, and although that can be varied as it can with any child, it's very different to actually experience, even if it is reading in black and white."

The decision to implement the new test follows expert advice from the UK National Screening Committee.

Sharon Hillier, director of screening at Public Health Wales, added: "It is important that women are supported with information about the conditions and the screening offered so they can make the right decision for them as to whether they want to accept this offer."

The test will be rolled out in England from Autumn 2018, although details on what it will look like are yet to be decided by Public Health England.

What is NIPT?

One in every 200 women loses their baby after an amniocentesis, in which the fluid around the developing foetus is tested for genetic disorders

NIPT instead tests for fragments of foetal DNA, which reaches the mother's blood via the placenta

NIPT will only be offered to women who have already received a higher-chance result from a combined screening test, which is available on the NHS

The test is currently available privately in Wales

# data[].attributes.attachment_link.title
New Down's test 'to cut miscarriage risk'

# data[].attributes.attachment_link.description
Pregnant women in Wales are to become the first in the UK to receive a non-invasive test for Down's syndrome. The NHS blood test, available from Monday, is said to be safer and more accurate than existing screenings for Down's, Edward's and Patau's syndromes.

# data[].attributes.attachment_link.readable_text
Certain fragments of DNA shed by tumours into the bloodstream can potentially be used to non-invasively screen for early-stage cancers, monitor responses to treatment and help explain why some cancers are resistant to therapies. For most tumours, a tissue biopsy is quite challenging in that it is costly, painful, or potentially risky for the patient. All these are good reasons to learn about cancer through blood and to get excited about the possibility of carrying out liquid biopsies. The development of non-invasive methods to detect and monitor tumours continues to be a major challenge in oncology. Cell-free circulating tumour DNA (ctDNA) and circulating tumour cells (CTCs) are plasma sources of tumour DNA that have been investigated for non-invasive detection and monitoring of patient tumours but have not been analysed or directly compared across multiple tumour types. Although the current Food and Drug Administration (FDA)-approved liquid biopsy measures intact CTCs to give a prognosis of overall survival, the potential predictive value of ctDNA is much more exciting. ctDNA liquid biopsy allows us to understand specifically what kind of molecular changes are happening in the tumour in real time, which is a very big step beyond where CTCs are today in clinical terms.

An interesting study in this field, providing a wealth of information on the potential utility of ctDNA measurements to assess patients with various cancers, was published in the February 19 issue of Science Translational Medicine ( 1). The aim of this study was to measure levels of ctDNA with tumour-specific DNA mutations or structural changes in large cohorts of matched human plasma and tumour tissue samples. Bettegowda et al., used a sophisticated method of digital polymerase chain reaction-based sequencing techniques and rearrangement analyses to measure levels of ctDNA with tumour-specific DNA mutations or structural changes in large cohorts of matched human plasma and tumour tissue samples ( 1). Among study participants with metastatic cancers, ctDNA was detected in 82% of patients with solid tumours outside the brain, including more than 75% of patients with advanced ovarian, colorectal, bladder, gastroesophageal, pancreatic, breast, hepatocellular, and head and neck cancers, as well as melanomas. Less than 50% of patients with medulloblastomas or metastatic cancers of the kidney, prostate or thyroid, and less than 10% of patients with gliomas, had detectable ctDNA ( 1). Among patients with localized cancer of all types evaluated, only 55% had detectable ctDNA, but the proportion of patients with detectable ctDNA increased with tumour stage ( 1) (). Of note, CTCs were often absent in patients with detectable ctDNA; when CTCs and ctDNA were present in the same patient, the average number of mutated DNA fragments was greater in ctDNA isolations, highlighting the distinct nature of these biomarkers ( 1).

Early detection is the holy grail of cancer research and any effort to enhance detection of cancer at an early stage is more than welcome. Recently, Ilie et al., reasoned that the invasive character of lung cancer could be used as its "Achilles' heel" and demonstrated the proof of concept of CTC detection as an early indicator of invasive lung cancer in "at risk" patients. They examined the presence of CTCs by an International Symposium on Endovascular Therapy (ISET) filtration-enrichment technique in complement to CT-scan in chronic obstructive pulmonary disease (COPD) patients without clinically detectable lung cancer ( 3). CTCs were able to be detected in patients with COPD and monitoring "sentinel" CTC-positive COPD patients allowed early diagnosis of lung cancer ( 3) ().

Bettegowda and colleagues were able to detect circulating KRAS-mutant DNA fragments in the plasma of patients with KRAS-mutant tumours with high specificity and sensitivity, and high ctDNA levels were associated with decreased 2-year survival. A separate panel of 206 patients with metastatic colorectal cancer was examined to determine the sensitivity and specificity of ctDNA liquid biopsies. The sensitivity of ctDNA for detection of clinically relevant KRAS gene mutations was 87.2% and its specificity was 99.2% (). In patients with metastatic colorectal cancer who developed resistance to EGFR antibodies, analysis of ctDNA identified the emergence of polyclonal KRAS, NRAS, BRAF, or EGFR mutations in 96% of panitumumab- or cetuximab-refractory patients. Subsequently, Misale et al., were able to illustrate a way to use this information to overcome treatment resistance ( 2). Regardless of the genetic alterations, resistant cells consistently displayed MEK and ERK activation, which persisted after EGFR blockade, while suppression of EGFR, together with silencing of MEK, was required to hamper the proliferation of resistant cells ( 2). Therefore MEK inhibitors, in combination with cetuximab or panitumumab, should be tested in Colorectal Cancer (CRC) patients who become refractory to anti- EGFR therapies ().

Besides DNA, tumour cells can also release RNA into the blood by a variety of microvesicle-dependent or -independent mechanisms ( 5, 6). Several models have shown that platelets are crucial to tumour cell growth, spread, invasion, intravasation, migration, extravasation, and establishment of distant metastasis ( 7, 8). Cancer cells have a remarkable arsenal of mechanisms to induce platelet aggregation ( 8). Tumour cells release tumour-derived biomolecules into the blood, where they are absorbed by platelets ( 4, 9- 12). Using confocal microscopy and reverse transcription-PCR (RT-PCR), it has been shown that platelets isolated from healthy individuals take up RNA-containing membrane vesicles from cancer cells ( 4). Moreover, platelets isolated from patients with glioma and prostate cancer contained the cancer-associated RNA biomarkers EGFRvIII and prostate cancer antigen 3 (PCA3), respectively ( 4) (). Since platelet RNA can be readily isolated and analyzed ( 13, 14) platelets seem to be an additional source for the non-invasive monitoring of biomarkers. Furthermore, microvesicles, like exosomes, are present in plasma and may provide a protective environment for tumour-derived RNA though specialized techniques are required for adequate RNA isolation ( 5) ().

To date, liquid biopsies have generated a lot of excitement since they can provide a non-invasive, ongoing picture of a patient's cancer, offering valuable insight into how best to fight it. In addition to offering clues about stage and spread, liquid biopsies can be used to monitor the effects of cancer treatment, give an early warning about possible recurrence and offer clues to the reasons for treatment resistance. ctDNA investigations in cancer patients are increasingly being performed, supporting the different potential applications of this approach. Serial analysis of ctDNA during treatment can provide a dynamic picture of molecular disease changes, suggesting that this noninvasive approach could also be used to monitor the development of secondary resistance and identify heterogeneous subclonal populations of tumour cells developing during the course of treatment. In the future, instead of extensive imaging and invasive tissue biopsies, liquid biopsies could be used to guide cancer treatment decisions and perhaps even screen for tumours that are not yet visible on imaging.

# data[].attributes.attachment_link.title
Real-time liquid biopsies become a reality in cancer treatment

# data[].attributes.attachment_link.description
Certain fragments of DNA shed by tumours into the bloodstream can potentially be used to non-invasively screen for early-stage cancers, monitor responses to treatment and help explain why some cancers are resistant to therapies. For most tumours, a tissue biopsy is quite challenging in that it is costly, painful, or potentially risky for the patient.