Non-Invasive Prenatal Testing (NIPT) For Down Syndrome

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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, such as Down Syndrome, 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 around 12 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 chromosomal check in pregnancy which is non-invasive using cfDNA (cell free DNA) to detect chromosome abnormalities and therefore is an excellent Down Syndrome Test. 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.

Down Syndrome Screening and Diagnosis

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