Non-Invasive Prenatal Testing (NIPT)

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MUMS offer two NIPT options.

1. Panorama NIPT
2. Illumina NIPT

A Non-Invasive Prenatal Test is a screening test offered in pregnancy to screen for common chromosomal conditions, without the risk of miscarriage. This is a blood test usually performed in conjunction with an ultrasound scan. The scan is to confirm gestation and viability.

The test is a DNA/screening test where a sample of blood is taken from the mother from as early as 9 weeks gestation for Panorama and 10 weeks for Illumina.

This simple prenatal genetic blood test reveals the likelihood of your baby having a condition such as Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13) and other specific chromosome conditions. There is also an option for you to request the gender of the baby with a NIPT when the result is processed.

Nuchal Translucency 1st Trimester combined screening test – is the traditional way of screening for Down Syndrome in the NHS and is carried out between 11-14 weeks. This test gives you a risk based on the Nuchal Translucency measurement, hormone blood results and maternal age. It is not as accurate as the Gold Standard – NIPT – Panorama and Illumina. The detection rate from Nuchal Screening is 85-90% whereas NIPT Testing detection rates are 99.9% accurate for Down Syndrome. Women may still choose to have their NHS 12-week scan and Nuchal Screening (or privately) but have NIPT privately.

The NIPT test performance is superior to traditional screening for Down Syndrome. The NIPT test is the most accurate screening which is non-invasive using cfDNA (cell free DNA) to detect chromosome abnormalities. Chromosomal conditions such as Down Syndrome do not typically run in families and can happen to anyone in pregnancy, although the chance of having a baby with Down Syndrome increases with age. However, most babies born with Down Syndrome are born to women under the age of 35, as the uptake of screening is less common in this age range.

Sex chromosome aneuploidy conditions are included in all NIPT offered at MUMS’ clinic. These conditions occur when there is a missing, extra, or incomplete copy of the X or Y chromosome. Both Panorama and Illumina NIPT include the sex chromosome aneuploidy panel to assess risks for abnormal X and Y chromosomes for example Klinefelter and Turner syndromes.

The NIPT does not provide information on other physical defects such as spina bifida, or information on fetal growth. It is therefore recommended that the mother has all the usual ultrasound scans during her pregnancy.

At the time of birth, Down Syndrome is the most prevalent trisomy, diagnosed in new-borns. It can cause digestive problems, congenital heart issues, and other deformities in addition to being linked to moderate to severe intellectual/learning difficulties.

A high rate of miscarriage is linked to Edwards syndrome and Patau syndrome. These affected babies have multiple abnormalities including congenital heart problems and significant cognitive abnormalities incompatible with independent life. Only a few affected new-borns survive past their first year of life, the majority pass away during pregnancy or shortly after birth.

Often – expectant mums seek a blood test for Down Syndrome during pregnancy or a chromosome check. Down Syndrome and other chromosomal abnormality screening is included in NIPT tests. Private prenatal testing for Down Syndrome is a commonly private screening test for expectant mums.

Panorama NIPT

• Panorama includes testing for Down/Edwards and Patau syndromes, fetal sex, and sex chromosome aneuploidy options plus Triploidy and Di George Syndrome
• Option for extended microdeletion panel
• Only NIPT that distinguishes between maternal and fetal DNA
• Requires fetal fraction of 2.8% - low chance of test failure
• Accurate Gender available – zero fetal sex errors in validation studies
• Testing from 9 weeks gestation
• Turnaround time – 10 days.
• Twin pregnancy – Panorama reports zigosity, risk for common trisomies, individual fetal fraction and fetal gender. Suitable only for biologically related egg pregnancies
• Available for IVF singleton pregnancy conceived via egg donor, frozen egg, frozen embryo, sperm donor and surrogacy
• Complementary genetic information session with a Natera board certified genetic counsellor. Book your free session here before or after choosing your NIPT.

 

Illumina NIPT

• Illumina includes testing for Down, Edwards and Patau syndromes, fetal sex, and sex chromosome aneuploidy options.
• Requires fetal fraction of 1% - reduced chance of test failure 
• Gender available
• Testing from 10 weeks
• Faster turnaround time – approx. 7 days.
• Available for twin pregnancies/but for gender in twins - a female result will apply to both babies, a male result will apply to either one or both babies.
• Available for IVF pregnancies including, egg donor, frozen eggs. Frozen embryo’s, sperm donor and surrogacy

Pricing

Illumina NIPT with USS	£425
Illumina NIPT without USS (scan within 48 hours) £385	£385
Panorama NIPT base test with USS	£425
Panorama NIPT base test only without USS (scan within 48hrs)	£385
Panorama NIPT extended panel with USS	£600
Panorama NIPT extended panel without USS (scan within 48hrs)	£550

Frequently Asked Questions

• Which NIPT to choose?

  We offer Panorama and Illumina. Although Panorama can be offered from 9 weeks, the turnaround times is longer than Illumina due to the laboratory being overseas. The costs for both Panorama and Illumina are the same. Panorama unlike Illumina – offers an extended panel to screen for more rare chromosome conditions too – at an additional cost. Panorama is preferred for twins.

• From when can I have a NIPT done?

  Panorama from 9 weeks with up to 10 days for a result. Illumina from 10 weeks with up to 7 days for a result.

• Do I need a scan with this blood test?

  You need a scan with this test which is included in the price, and to check the heartbeat and gestation. If you have had a scan within 48 hours at MUMS or elsewhere the cost is reduced as we do not need to scan you again.

• How long do I have to wait for the results?

  Panorama - up to 10 days for a result. Illumina – up to 7 days for a result.

• How will I get the results?

  We call you and email you a copy of the result as soon as it is received at MUMS. We offer this 6 days per week.

• Can I find out the gender of the baby from this test?

  Yes

• If I don’t want to know the gender at the time of the test but then I change my mind, can I still find out later?

  Yes

• What if the results come back positive for any of the conditions?

  In this case, one of our consultants/Fetal medicine specialists will call you with the results and explain what they mean and what is the next step from there and we will inform the screening midwives at your local hospital and will send all relevant paperwork. We offer a second opinion scan and consultation with our Fetal Medicine Consultant - £300. We also offer invasive testing – namely CVS and Amniocentesis.