Has your ultrasound provider mentioned that your baby has increased NT, hydrops, or a cystic hygroma?
Learn what can be done next with the SMART NT Protocol today.
Genetic testing helps assess your cancer risk - explore the diagnostic tests we offer for a range of cancers
We offer various blood test which can be markers for certain cancers, such as PSA, hCG, AFP, CA 19-9 and more
We offer various blood test which can be markers for certain cancers, such as PSA, hCG, AFP, CA 19-9 and more
Book expert cancer investigations, such as colposcopy, smear tests, mammograms, MRI and ultrasound.
Recovering from cancer? Signatera is a revolutionary test that checks whether there are any residual cancer cells in your blood
Four situations when you should contact us.
If you have a personal or family history of breast cancer, you may want to consider breast cancer genetic testing. Inherited changes (mutations) in genes such as BRCA1, BRCA2, PALB2, and others can increase your risk of developing breast cancer. Genetic testing can identify whether you carry one of these mutations, providing valuable information for your health and helping you make proactive choices for early detection, prevention, or treatment.
You are more likely to benefit from genetic testing if you were diagnosed with breast cancer at a young age (under 50), if you have multiple family members affected by breast, ovarian, prostate or pancreatic cancer, or if you have a known family history of inherited gene mutations. Certain ethnic groups, particularly those with Ashkenazi Jewish ancestry, also have a higher chance of carrying BRCA mutations, around 1 in 40 compared to 1 in 400 in the general population. Studies show that inherited mutations account for around 5–10% of all breast cancers, making breast cancer and genetic testing an important consideration for those at increased risk.
Not all lumps are cancerous, but it’s important to get any changes checked by a doctor. Breast cancer screening in the UK plays a vital role in identifying these signs early. Early detection can make a big difference.
Breast cancer can be caused by a combination of factors. These include age (risk increases as you get older), hormonal factors, lifestyle choices, and exposure to certain environmental risks. However, in many cases, there’s no single known cause. Around 5-10% of breast cancers are due to inherited genetic changes. If you have a strong family history of breast or ovarian cancer, you may carry a variant in a gene such as BRCA1, BRCA2, or PALB2, which can significantly increase your risk. Genetic testing can help identify this inherited risk and guide decisions around screening and prevention.
The most common test for detecting breast cancer is a mammogram, which is an X-ray of the breast. It can pick up changes in breast tissue before a lump can be felt. In the UK, women aged 50 to 70 are routinely invited for NHS breast cancer screening every three years, although younger women at high risk may be offered screening earlier. Other tests include ultrasound scans, breast MRI, and biopsies, where a small sample of tissue is taken to be examined under a microscope. If you’re concerned about inherited risk, genetic testing can look for gene variants linked to breast cancer and help you understand your long-term risk.
Treatment for breast cancer depends on the type, stage, and whether the cancer has spread. Common treatments include surgery to remove the cancer, radiotherapy to destroy any remaining cancer cells, and chemotherapy to target cancer throughout the body. Some women may also be offered hormone therapy or targeted therapy, depending on the cancer's characteristics.
In cases of hereditary breast cancer, treatment plans may also include discussions around preventative options, such as risk-reducing surgery (e.g. double mastectomy), particularly if a high-risk gene is involved. Your care team will work with you to choose the best treatment approach for your situation, focusing on both effectiveness and quality of life.
Disclaimer! These reflections are my own and arise from practice rather than committee. They do not represent the positions of the FMF, UCLH, NHS, RCOG, ISUOG, or any other organisation. As with any clinician, I may make mistakes or misjudgements. But I believe that coupling a careful 10 Week Scan with modern NIPT, and escalating to targeted diagnostics when indicated, offers families the balance we seek: early clarity without haste, and precision without noise.
NT scan and NIPT at 10 weeks; full results by 12 weeks
For most people, the first decision is what you want the test to achieve. If your main goal is the best possible screening for Down syndrome (trisomy 21) and the other two common trisomies (18 and 13), then a basic “trisomy-only” NIPT is usually the most sensible starting point. Down syndrome is one of the commonest chromosomal conditions in pregnancy, and in England the prevalence in total births has been reported at roughly 1 in 336 in 2021. Basic NIPT is also much more accurate than the Combined Screening Test and leads to far fewer false alarms.
If you want to reduce uncertainty beyond trisomy 21/18/13, then an extended NIPT can be considered, but it’s important to choose a targeted, clinically curated panel rather than “genome-wide everything”, because broader screening tends to generate more false positives and ambiguous findings. This is especially relevant if your 10–13 week scan shows an increased NT or any other worrying marker, because in that situation the residual risk is not just the common trisomies; single-gene syndromes and certain microdeletions become more relevant. In that scenario, an extended test like KNOVA (which includes a defined single-gene panel as well as selected chromosomal targets) is often a more logical choice than a trisomy-only test, while still remembering that any “high chance” result must be confirmed diagnostically.
Whichever option you choose, a scan before NIPT is important (to confirm dates, viability and whether it’s a singleton or twins), and NIPT never replaces ultrasound for structural problems such as heart defects.
Also, in the NHS in England, NIPT is usually offered only after a higher-chance Combined or quadruple screening result (it’s not routinely first-line for everyone).
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We offer expert advice and testing for a range of genes that may increase your risk of developing certain types of cancer.
View Full Gene List
For medical professionals who want to learn more about the SMART NT approach, access training, and join our clinical network.
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