Our partner, London Pregnancy Clinic, combines advanced NIPT for Down’s syndrome with expert ultrasound scans to check your baby’s health as early as possible. The best time for NIPT is alongside a 10-week scan.
The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.
Non-invasive prenatal screening (NIPT) is an advanced test offered by our partner, the London Pregnancy Clinic, to screen for three major chromosomal anomalies:
These figures highlight the test’s high accuracy, with false positive rates of less than 0.1% for all three trisomies. The test can also determine the fetal sex with over 99% accuracy.
The process of NIPT at the London Pregnancy Clinic involves several steps:
The lab uses advanced DNA sequencing techniques to examine specific genes known to be associated with various disorders. The results usually take a few weeks to process. After the analysis is complete, a genetic counsellor or healthcare provider will discuss the results with the individual or couple, explaining their implications and addressing any questions or concerns. This post-test counselling is crucial for understanding the results and making informed decisions about future steps.
An ultrasound is a crucial part of fetal screening. The lab requires confirmation of viability and gestational age for each NIPT submission. While NIPT is highly effective for screening three chromosomal anomalies and some other genetic conditions (Panorama only), it cannot screen for structural anomalies such as heart or brain defects, which are often more serious than Down’s syndrome.
At the London Pregnancy Clinic, they specialise in early detection of fetal anomalies, including the fetal heart and brain. They can detect some severe anomalies as early as 10 weeks. For the best results, it is recommend to do their 10-week scan. If you opt for the Panorama Test at nine weeks, LPC will also perform an expert structural scan for your baby, though this scan may be limited due to the baby’s small size and developmental stage.
Yes, NIPT is safe. It is a non-invasive test that only requires a blood sample from the mother. There is no risk to the baby, unlike invasive tests such as amniocentesis or CVS, which carry a small risk of miscarriage. For more information, please visit our partner's website or contact us directly. Our team is here to provide comprehensive care and support throughout your pregnancy.
We provide a comprehensive range of services, from private GP consultations and specialised men's and women's health care to advanced ultrasound scans and proactive health screenings, all within a reassuring and state-of-the-art environment.
You have a question about NIPT? We have an answer.
Non-Invasive Prenatal Testing (NIPT) offers several benefits, particularly for Down’s syndrome (T21) screening:
Early Testing: Available from 10 weeks of pregnancy.
High Accuracy: High negative predictive value for T21.
Reliable Detection: High detection rate for T21.
Low False Positives: Minimal false-positive rate for T21.
Cost: The cfDNA test, such as the Harmony Test, can be relatively expensive.
Not Diagnostic: While highly sensitive, NIPT is not a diagnostic test.
Physical Anomalies: It cannot detect any physical (structural) anomalies.
Limited Effectiveness: Less effective for babies with increased nuchal translucency (NT) thickness or structural anomalies.
Processing Time: Results can take up to a week, or even 10 days for Invitae NIPS.
No-Call Results: In about 5% of cases, no results are returned, especially common with the Harmony Test.
Although our NIPT options are very accurate, some high-chance results for Down’s syndrome can be false positives, meaning the baby does not actually have trisomy 21. Biological factors that can cause discrepancies between cfDNA results and the baby’s genetic status include uncommon conditions like confined placental mosaicism, fetal mosaicism, maternal chromosome changes, and the presence of an unrecognised, nonviable (or viable) twin.
22q deletion syndrome, also known as DiGeorge syndrome, is a genetic condition caused by a small, missing piece of the 22nd chromosome. This missing piece can affect every system in the body, including the heart (75% of babies with the condition have heart defects), palate, immune system, hormones, and kidneys. It can also impact mental health, leading to learning and behavioural differences, anxiety, and conditions like schizophrenia (in 25% of adults). Panorama AI can detect over 80% of fetuses with 22q deletion with a positive predictive value of 53%. Early detection leads to earlier interventions and better outcomes. For example, we can perform early fetal echocardiography from 12 weeks to exclude severe heart anomalies associated with 22q deletion.
NIPT is a screening method to determine the chance of a baby being born with Down’s syndrome or other chromosomal anomalies. NIPT assesses small DNA fragments from the baby's placenta (cfDNA) found in the mother's blood. This allows early detection of specific chromosomal anomalies without harming the baby.
The Harmony Test was a well-known NIPT brand by Ariosa/Roche, used for many years at our clinic. However, it suffered from a high rate of test failures and inconclusive results, leading to its discontinuation by TDL in August 2023. Panorama AI NIPT is an advanced screening test based on state-of-the-art algorithms. It has a lower sample failure rate compared to Harmony and is more affordable. However, results can take up to 10 working days due to sample shipping to a US-based lab. While cfDNA testing is relatively new, it has proven superior to other screening tests for Down’s syndrome, such as the combined screening test (CST) used by the NHS. NIPT can detect a small proportion (about 15%) of all fetal anomalies, as most are physical (structural) and not chromosomal.
NIPT is a screening test and cannot provide a definitive diagnosis. If the results indicate a high chance of a condition, follow-up invasive testing (like CVS or amniocentesis) is needed to confirm the diagnosis, which carries a small risk of miscarriage.
Detection rate is the fraction of all patients with the disease who test positive. Positive Predictive Value (PPV) is the proportion of true positives among all positive results. Most NIPT tests have at least a 90% PPV for Down’s Syndrome, meaning 90% of fetuses identified as high probability will have the condition. However, 10% of the time, a high probability result will be a false positive. Therefore, a high probability result requires a diagnostic test like CVS or amniocentesis for confirmation.If you have any questions about NIPT, please contact us via email or phone. Our friendly staff will be happy to explain the test details. For more information, read London Pregnancy Clinic's blog post on understanding NIPT statistics.
In the UK, there are strong protections in place to prevent genetic discrimination in insurance and employment. The Concordat and Moratorium on Genetics and Insurance, agreed upon by the government and the Association of British Insurers, prohibits insurers from asking for or using predictive genetic test results for most insurance products, including life insurance up to £500,000. Regarding employment, the Equality Act 2010 protects individuals from discrimination based on genetic information. Employers are not allowed to request genetic test results as a condition of employment. However, it's important to note that if a genetic condition manifests and affects your ability to do your job, normal rules regarding illness and capability would apply. Overall, the results of Carrier Genetic Testing should not negatively impact your insurance or employment prospects in the UK.
According to verified reviews from platforms such as Doctify, TrustPilot and Google - 99% patients have a positive experience at Spital Clinic.
"Great experience. Frustratingly we had 3 NIPTs come back with no result so had to do 3 blood redraws but thanks to LPC’s persistence we finally got a result on the 4th draw. After the 3rd no result they also kindly offered us a free anomaly scan."
"I had a surprisingly positive experience. The most friendly and helpful staff, clean and beautiful premises. The visit was smooth and quick but never felt rushed and I was able to ask all the questions I had. Thanks so much!"
"The service was exceptional from the moment we booked to the moment we left the building post our appointment. The lovely colleagues at the main desk were great and approachable. They made the whole process very comforting."
"I really recommend this clinic, everything was smooth and perfect. All staff are helpful and our sonographer Miss Shaz is an expert on her job, she is very kind and explained everything that we asked. I am glad to choose LPC."
Our medical centre is at 36 Spital Square, E1 6DY, City of London.
