What is Non-Invasive Prenatal Testing?
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, dervived 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.
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.
Why choose NIPT?
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 does increase 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.
What you will receive
- Detailed ultrasound and NIPT report, with charts and images, to file with your maternity notes.
- YourBabyScan Images and Videos direct to mobile and email
- Baby Ultrasound Images to take home
- Longer appointment times as routine
- A calm and relaxing environment
- High quality professional care from our Specialist Advanced Sonographers who are committed to advances in pregnancy care
How is the Non-Invasive Prental Test Performed?
- An ultrasound scan is always performed prior to the NIPT blood test. This ensures that your baby is healthy, with a strong heartbeat and growing well. This scan will also confirm if it is a singleton or multiple pregnancy. Our Specialist sonographer will check that baby is developing well and confirm your estimated due date, or EDD. Your baby must measure over 10 weeks gestation for the NIPT performed, therefore it maybe best to wait until a few days past 10 weeks of pregnancy to visit us for your appointment to ensure your baby is developed enough.
- Our Specialist Sonographer will discuss the pros and cons of the three Non invasive prenatal tests available; Harmony, Panorama or SAFE. Prenanatal counselling is important help you choose the best test for baby and for you.
- Once the pregnancy scan has been performed and your NIPT options discussed, a consent form will be given to you to read and sign. If you have any questions, our specialist sonographers are here to answer them.
- A simple blood test is then taken from the vein of the mother’s arm like any other blood test. There is no risk to your baby from having this blood test performed.
- The blood sample tubes are immediately packaged and dispatched to the laboratory for processing and analysis.
- NIPT screening results determine if you have a low or high probability for Downs syndrome, Edwards syndrome or Pataus syndrome. They can also tell you the sex of your baby.
- If you receive a high probability result our expert team will discuss pathways, including further investigations such as detailed ultrasound scans, invasive testing, counselling or referral to your Fetal Medicine Unit (FMU). This can also be discussed with our Consultant.
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 firstname.lastname@example.org.
For further information please see below:
Anticoagulation Therapy Publication
What to Expect
- We offer the Panorama, Harmony and SAFE tests in Cheshire from just 10 weeks. There is no upper time limit, but we recommend arranging your NIPT before the Nuchal Translucency Scan.
- We will perform an ultrasound scan to check that you and your baby are doing well before the test.
- NIPT is performed like any other blood test. We’ll just take a small sample, usually from a blood vessel near the inside of your elbow.
- The results of the Harmony and SAFE tests should be back in 3-7 days. The Panorama test can take a little longer, but your results should be available in 9-14 days.
- You will get a complete report on your NIPT results that tells you if your baby is at risk of each type of chromosomal abnormality. A low risk result means your baby is very unlikely to be affected. A high risk result suggests there could be an abnormality. You will be able to discuss the results and what they mean with one of our experts.
How much does NIPT cost?
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).
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.
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)
The transducer will be introduced with a latex / non latex type covering and sterile ultrasound gel.
It will be necessary to move the transducer from side to side, up and down and may be swivelled to obtain ultrasound images of your pelvic anatomy.
If you prefer, you may insert the transducer yourself, otherwise the person conducting the examination will do this.
A third person may be present during the examination acting as a chaperone, if required by the sonographer or yourself.
You may request the examination to be stopped at any time during the procedure.
If you are a virgin (Virgo intacta; hymen intact), guidance determines that transvaginal ultrasound scans are clinically contraindicated. If you have discussed this concern with your referrer and wish to proceed with a transvaginal ultrasound scan, this type of examination can be performed.