Non Invasive Prenatal Testing is currently the most advanced non-invasive pregnancy screening available for parents who would like to determine if they have a low probability or high probability for their baby having the conditions Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. NIPT is available from as early as 10 weeks of pregnancy, for early screening before the NHS Nuchal Translucency scan. NIPT can be performed after the NHS 12-14 week Nuchal Translucency Scan, or even in the mid term of pregnancy after the 20 week anomaly scan.
It has been discovered that a blood sample taken from the mother from 10 weeks of pregnancy onwards can be analysed for cell free fetal DNA (cfDNA), which represents a sample of the fetal-placental DNA, derived from placental trophoblasts, in the mother’s blood.
This prenatal screening method involves taking a safe blood sample from the mother’s arm. There is no increased miscarriage risk to your baby from having this simple, safe maternal blood test. The cell free fetal DNA (cfDNA) which is present in the mother’s blood is then analysed, the results determine if there is a high probability or low probability of the baby having one of the three screened conditions; Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. These conditions are also known as Trisomy 21, Trisomy 18 and Trisomy 13.
NIPT can be used in twin, singleton donor and surrogate pregnancies. You can also choose to find out the sex of your baby by looking at baby’s chromosomes, this is optionally included in your NIPT. In some circumstances it may not be possible for the NIPT to report on the sex of your baby, such as Vanishing twin pregnancies.
If you have had any complications in your current pregnancy such as a vanishing twin. We would request that your most recent ultrasound report is sent to us ahead of your appointment.
Non-invasive prenatal testing is available from several different laboratories across Europe, China and the U.S.A. The Harmony NIPT is processed and analysed for The Birth Company by The Doctors Laboratory ( TDL) in London. The Panorama NIPT is processed and analysed for The Birth Company by Natera inc. in the USA. The SAFE Test NIPT is processed and analysed for The Birth Company by St Georges University Hospital in London.
There are other NIPT providers available including Neobona, Maternit21, Verifi and Serenity. The laboratories process and analyse cfDNA, however they use slightly different methods of analysis.
Parents to be who wish to find out the likelihood that their baby has one of three chromosomal conditions; Down’s syndrome (T21), Edward’ syndrome (T18) or Patau's syndrome (T13) choose NIPT. This prenatal test can be performed two weeks earlier than the NHS 12-14 week Nuchal Translucency screening.
Tiny structures inside your baby’s cells called chromosomes carry the genes that determine how your baby develops. There are 23 pairs of chromosomes per cell, however changes may occur during the production of sperm or egg cells which can lead to your baby having an extra chromosome. Although babies with Trisomy 21, Trisomy 18 and Trisomy 13 are born to mothers of all ages, maternal age increases the likelihood of the presence of these conditions. NIPT analyses the cffDNA in the maternal blood, to determine if there is an increased likelihood that your baby has an extra chromosome present. Downs Syndrome, Edwards Syndrome and Pataus Syndrome are spectrum conditions varying from mild to severe presentation.
The Nuchal Translucency screening offered by the NHS determines a background chance based on maternal age. From the maternal age of 35 years of age onwards this background chance increases substantially. This increases the likelihood of receiving a high probability result from the Nuchal Translucency screening. Due to the limitation of the Nuchal translucency screening, this lowers the positive predictive value (PPV) of the test, meaning that those over 35 are more likely to receive a high probability result, even if the baby does not have the condition.
NIPT has a higher positive predictive value than the Nuchal translucency screening. This means less high probability results where the condition is not actually present. We do not use the term false positives, as these are screening tests therefore they do not determine positives or negatives. They offer likelihoods, from low to high.
NIPT is particularly recommended for those over 35 years of age, parents to be who have had a high probability result in their current or previous pregnancy, or a confirmed chromosomal condition in a previous pregnancy. It is for those who wish to avoid unnecessary invasive testing, which carries a risk of miscarriage.
The most preferred NIPT is the Harmony Test. If you know which NIPT you wish to have please read the consent form prior to your appointment:
If you are undecided which NIPT you wish to have our Specialist Sonographers will be happy to discuss this during your appointment.
Please note We recommend using our pregnancy calculator, or contacting our Specialist admin team if you are unsure of the best time to attend for your NIPT. NIPT can be performed from 10 weeks of pregnancy. If you are too early for NIPT when you attend for your appointment, an additional charge of £120 will be required to cover the cost of the additional appointment and scan required.
Please note in the circumstance that during your appointment an ultrasound scan is performed but we do not proceed to the NIPT, a fee will be taken for the price of the scan. This can vary between £120 - £180 depending on gestation. The additional amount will be refunded to you.
Please note in the instance of a repeat full test failure, the NIPT laboratory fees may be refunded. A fee for the appointment services provided will be retained.
Please note Anticoagulation therapy (commonly called blood thinners) can increase the possibility of a test failure for your NIPT. Please leave as long between administering your dose and your NIPT appointment as possible. For example, if you administer in the evening and have an early morning appointment, either change to an appointment late in the day, or refrain from your evening dose. If you administer in the morning, refrain from that dose until after your appointment. If you have any queries regarding this, please contact our team email@example.com.
For further information please see below:
Anticoagulation Therapy Publication
There is an increased likelihood of test failure for IVF pregnancies, twin pregnancies, mothers using blood thinners (eg clexane) and mothers weighing over 85kg. Test failures can cause parents unnecessary concern.
If possible we recommend waiting until 11 or 12 weeks (or later) to perform your NIPT, this will increase the percentage of fetal fraction available for the test and reduce the likelihood of receiving no result.
Prior to this advance in prenatal screening, doctors and screening midwives used the results of the Nuchal Translucency Scan to advise parents to be if they had a low or high probability of their baby having the conditions Downs syndrome, Edwards syndrome or Pataus syndrome. The Nuchal Translucency Scan is a method of screening offered by the NHS from 12 to 14 weeks of pregnancy and includes several factors to determine this probability, including maternal age, the nuchal translucency measurement at the back of the baby’s neck and the maternal blood biochemistry (free ß-hCG and PAPP-A). This method is also known as the combined test. The greater the maternal age, the greater the background chance of the presence of the condition.
Nuchal Translucency screening test, or combined test, has a sensitivity of 84%. Parents to be who receive a high chance result are offered counselling by their screening midwife. This does not confirm the presence of the chromosomal condition. A diagnostic invasive test such as chorion villous sampling (CVS) or amniocentesis can confirm the presence or absence of the conditions Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. A needle is used to take a sample of the pregnancy, through the mother’s tummy to allow for the analysis of fetal DNA. These invasive tests report a risk of miscarriage to the pregnancy of 1:100.
Since Non invasive prenatal testing (NIPT) became available many parents to be chose this more accurate prenatal screening. For comparison, when screening for Down’s syndrome using the Nuchal Translucency scan, the detection rate is 84% and positive predictive value (PPV) is less than 15%, meaning the actual number of high probability pregnancies that are later confirmed to have the condition Downs syndrome is less than 1 in 6.
When screening for Down’s syndrome using the Non Invasive Prenatal Test, the detection rate is 99% and positive predictive value (PPV) varies from 48% to 99% from 18 years maternal age to 50 years maternal age. The greater the maternal age, the greater the NIPT positive predictive value (PPV). You can use the NIPT Positive Predictive Value calculator here to calculate your PPV for each condition here:
This means using NIPT, the actual number of high probability pregnancies confirmed to have the condition Down’s syndrome vary from 1 in 2 (50%) confirmed with the condition to 9 in 10 (90%) of babies confirmed with the condition, depending on maternal age and other factors such as the presence of structural conditions.
For Edwards Syndrome the NIPT positive predictive value (PPV) is 2 in 5, or 40% likelihood that the baby is confirmed to have the condition. For Pataus Syndrome the NIPT PPV is reported as 1 in 2, or 50% of babies confirmed to have the condition after a high probability NIPT.
The results of the safe, simple NIPT blood test has a higher detection rate which will hugely reduce the need for unnecessary invasive testing by CVS or amniocentesis. This is great news for parents to be.
It is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy, and to check if there are twins or more. Our Specialist Sonographers will perform a detailed early fetal scan, early anatomy scan or anatomy scan depending how many weeks pregnancy you are when you visit us for your NIPT.
Yes. Structural conditions such as brain, face, stomach, kidney, bladder and limb conditions, as well as Spina Bifida. Poor growth and development will only be demonstrated on ultrasound scans, often not until the second and third trimester. We always perform a detailed ultrasound scan when you attend for an NIPT. After your NIPT if you would like further reassurance that your baby is developing and growing well, our Specialist sonographers are trained to perform early anomaly scans from 16 weeks of pregnancy.
There are further chromosomal conditions that can be screened for using NIPT, if you require screening for these rare conditions, your NIPT appointment must include a telephone consultation with our Consultant Obstetrician. The cost of Consultant led NIPT with full panel microdeletion screening is £830. Please find details of these below:
The Harmony Test offers screening for the rare conditions: Monosomy X, also known as Turner’s syndrome and other Sex Chromosome Aneuploids.
The positive predictive value of these conditions is much lower than for T21, T18 and T13. The purpose of NIPT is to reduce anxiety in pregnancy and reduce the number of invasive tests performed unnecessarily. Screening for rare conditions may increase the number of invasive tests performed. There is not a structured pathway within the NHS screening programme to support the screening of Monosomy X and Sex Chromosome Aneuploids from NIPT.
There are concerns that there is not enough evidence to support including screening for these rare chromosomal conditions.
The Panorama NIPT offers screening for further conditions called triploidy (which is included routinely), sex chromosome aneuploids and microdeletions. There are concerns that there is not enough evidence to support including screening for these chromosomal conditions. The positive predictive value of the test for these conditions is much lower than for T21, T18 and T13. Screening for rare conditions may increase the number of invasive tests performed unnecessarily. There is not a structured pathway within the NHS screening programme to support the screening of sex chromosome aneuploids and microdeletions. Microdeletion screening is not available for twin or donor egg pregnancies.
Please note Blood samples for Panorama Natera are collected before 2pm Monday - Friday. Panorama Samples taken on Saturday and Sunday will not be collected/shipped by the Panorama Natera organised medical samples courier until Monday afternoon.
If a vanishing/demised twin pregnancy is diagnosed at a previous scan we would request that ultrasound scan is sent to us ahead of your appointment. Many miscarriages of pregnancy are caused by chromosomal conditions, therefore there is a high probability that there was a chromosomal condition present in the twin that has sadly passed. There is an increased likelihood of receiving a high probability result when a demised twin is present. Some evidence suggests that performing Non-Invasive Prenatal Testing 8 weeks after the demise of the second twin may reduce the likelihood of a false positive result.
A high probability result does not confirm the presence of a chromosomal condition in the live twin, only invasive testing can prenatally confirm or exclude chromosomal conditions.
The SAFE Non-Invasive Prenatal Test is unable to offer sex determination for vanishing twin pregnancies.
If you are looking for a second opinion, please ensure that you provide us with your relevant ultrasound report ahead of your appointment to ensure that we can provide you with the best servce.
Ultrasound reports should be sent to firstname.lastname@example.org
There is the option of three different Non Invasive Prenatal Tests (NIPT) at The Birth Company; Harmony Test, Panorama Test and Safe Test, costing from £500 each. Harmony NIPT is the most preferred option by our patients. This is due to the samples being processed in London, meaning results are received on average within 7 days (Please note in some circumstances results can take longer).
Appointments after 5pm, weekend and bank holiday appointments incur a £50 surcharge. Included with every NIPT is prenatal screening counselling, a detailed ultrasound scan performed by one of our Specialist Sonographers, and comprehensive support for NIPT results.
NIPT appointments with our Consultant Dr Gibb incur an additional charge of £150. Please note Dr Gibb is available on Thursday afternoons.
If the NIPT is low probability then it is important that the person conducting the 12 week scan or 20 week pregnancy scan is aware of this. If the test is high probability, then you should return to The Birth Company or your NHS Fetal Medicine Unit for further counselling.
Pregnant women are offered two routine ultrasound scans during pregnancy within the NHS, this is called the Fetal Anomaly Screening Programme.
Depending on how many weeks pregnant you are, we recommend you take the opportunity to have a 12 to 14 week pregnancy scan privately or with the NHS. The focus of the 12 week scan will change as you will already know if you have a low chance for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. The 12 to 14 week pregnancy scan will look at the development of your baby in detail, our Sonographers are highly trained to perform early fetal scans and early fetal anomaly scans. These specialist private pregnancy scans and NHS scans look for structural conditions (these may exist without the presence of a chromosomal condition).
The other routine pregnancy scan offered by the NHS is around 20 weeks of pregnancy called the Anomaly scan. The purpose of this ultrasound scan is to assess your baby’s physical development and to look for 11 rare conditions, including head/brain and heart conditions.
The 20 week anomaly scan is a very important ultrasound scan during pregnancy.
More information about Downs Syndrome can be found here:
More information about Edwards' syndrome and Patau's syndrome can be found here:
Screening tests for you and your baby
Screening tests for you and your baby translated versions
For more guidance with prenatal screening please contact Antenatal Results and Choices:
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Some early pregnancy ultrasound scans are performed using a transvaginal probe technique. This technique is used to view the pelvic anatomy optimally, as the ultrasound probe can transmit safe ultrasound waves more directly to the pelvic area. In later stages of pregnancy, it may be advised to perform a transvaginal ultrasound scan to have a closer look at a baby’s anatomy, or to assess the maternal cervix.
There is no clinical risk associated with performing a transvaginal ultrasound scan. Transvaginal ultrasound scans can safely be performed during episodes of vaginal bleeding.
It is important that you understand the procedure that is associated with this examination.The ultrasound transducer will be placed in the vagina (the probe is prepared using high grade medical disinfectant)
Below is a link to our Transvaginal Ultrasound Consent Form. This must be completed ahead of your appointment to confirm whether you consent or do not consent to having your scan performed transvaginally.
We had received possible worrying news from our NHS anomaly scan, without much information provided or confirmation. I am so pleased that we came to The Birth Company for reassurance, as we are now extremely happy that everything is fine. Shahrzad was fantastic and went through the whole anomaly scan thoroughly, explaining everything and looking in detail at each area. Nothing was rushed and she took her time to make sure baby was in the correct position to get the best results. We can’t thank her and Dr Gibb enough for the confidence they have given us. Would highly recommend The Birth Company for all scans.
' Professional and reassuring 'Helen Campbell
The sonographer was ready as soon as I arrived, and she was extremely calming, personable and professional. The scan and blood test where efficient without feeling rushed and all very easy. These appointments can feel uneasy and make you feel anxious but I felt reassured and in professional hands the whole time
I saw Kate throughout my first pregnancy and am now doing so again with my second. She is absolutely amazing, she explains everything really clearly, and has answered all sorts of bizarre questions and worries I have had. On top of being clinically excellent she is also just the loveliest person and always a pleasure to see.Sarah Elliott
We had the harmony test with the Birth Company and had a reassurance scan with sonographer Kirsty McGarry who was absolutely lovely and really put our minds at rest. We had been scared by our NHS dating scan and left feeling like there was something wrong. We explained the situation and was treated very professionally and with good care. Also speedy appointments also as I had phone in the morning and got an appointment by afternoon. So thankful.Ashley and Tom
Really friendly, efficient service. Great experience overall. Had the Panorama. My appointment was with Kate who was absolutely fantastic. The results came really quickly. Have a comparison with private healthcare elsewhere and must say that The Birth Company was just how I would like to be treated when I pay for medical services - attentively, calmly, friendly, in a pleasant environment that doesn't look like hospital. Top marks!Anna
' Efficient, friendly and always on hand to provide last minute appointments 'Hannah Murphy
The Birth Company has been excellent, providing timely scans and blood tests during my IVF treatment abroad. Staff are always friendly and extremely efficient. I would highly recommend coming here.
' Professional and friendly 'Lyndsey Dilla
When I first contacted the Birth Company I spoke to Danielle. She was fantastic. She went above & beyond to put me at easy & make the journey from Kent as stress free as possible. Every staff member that myself and my husband have come into contact with have been approachable, professional and friendly. Kate scanned me the first time and put me completely at easy. Lisa on reception is professional and very approachable. Highly recommended
' Highly recommended 'Emelie
Donald was so lovely! I was so nervous as I have a bad history and he was super quick and confirmed my baby's heartbeat as quickly as he could. He spent time showing me the baby and the anatomy and it was the best money I have ever spent! The reception girls were lovely too - considering they deal with babies day in day out they were super excited for me! Thank you so much one and all! If only I lived in London and could have all my scans with you!
Great Portland Street