CONCEPTO – NIPT – ADVANCE

£279

  • Trisomy 13 – Patau Syndrome
  • Trisomy 18 – Edwards Syndrome
  • Trisomy 21 – Down Syndrome
  • Gender – Male (XY) – Female (XX)
  • Sex chromosome anomalies: X(O) -Turners Syndrome; XXY – Klinefelter’s syndrome; XYY- Jacob’s syndrome; XXX- Triple X syndrome.

Here is a list of who and what is needed for this test:

  • 99.9% accuracy for Down syndrome, Edwards syndrome, and Patau syndrome.
  • Sex chromosome anomalies: X(O) -Turners Syndrome; XXY – Klinefelter’s syndrome; XYY- Jacob’s syndrome; XXX- Triple X syndrome.
  • 0.1% false positive rate.
  • Illumina’s whole-genome sequencing allows for reporting NIPT results with confidence, even at low fetal fraction.
  • Results in up to 5 working days.
  • Once you have your result you can then discuss this with your GP, Midwife or consultant.

 

What is NIPT? NIPT is a screening test taken by a pregnant woman to check for genetic conditions of the baby before birth. NIPT analyzes cell-free DNA in the mother’s blood to identify these genetic conditions. CONCEPTO – NIPT – ADVANCE is a non-invasive prenatal test that provides a safe and accurate way to test the baby before birth for genetic disorders, such as trisomies

What is fetal fraction?

Cell-free DNA (cfDNA) in the peripheral blood of pregnant women consists of maternal DNA and a small portion of DNA from the fetus (which is placentally derived). The percentage of DNA in the maternal blood sample that comes from the placenta is known as the fetal fraction (FF). Factors that impact FF include gestational age, multiple gestations, maternal BMI, fetal aneuploidy, maternal disease, and medication.

When it comes to your baby’s health, accuracy matters. One of the advantages of CONCEPTO NIPT ADVANCE is that you can take the test as early as the 10th week of your pregnancy and quickly obtain accurate results!

Illumina’s NIPT performance at lower fetal fraction

Illumina’s VeriSeq NIPT Solution v2 approach allows samples with low fetal fraction to be reported, reducing NIPT failures. This method uses paired-end sequencing to measure fragment length, adding to FF estimation.

Once you have your result you can then discuss this with your GP or Midwife.

What are the limitations of NIPT?

Concepto-NIPT is not suitable for patients with:

  • Recent maternal blood transfusion
  • Maternal mosaicism
  • Maternal prior organ transplant/ stem cell transplant
  • Maternal copy number variations
  • Maternal autoimmune disease
  • Fetoplacental mosaicism / confined placental mosaicism
  • Maternal neoplasms (benign and malignant)
  • Fetal demise/ vanishing twin
  • Sex chromosome anomalies cannot be reported for twin pregnancies.
  • The VeriSeq NIPT Solution v2 is not validated for use in pregnan­cies with more than two fetuses, demised or vanishing fetus, mosaicism, partial chromosome aneuploidy, triploidy, transloca­tions, maternal aneuploidy, transplant or malignancy. VeriSeq NIPT Solution v2 does not detect neural tube defects.
  • Twin pregnancy limitations: For twin pregnancies, HIGH PROB­ABILITY test results apply to at least one fetus; male test results apply to one or both fetuses; female test results apply to both fetuses.

Additional links that may help you

Trisomy 13 – https://www.nhs.uk/conditions/pataus-syndrome/ – Trisomy 18 – https://www.nhs.uk/conditions/edwards-syndrome/ – Trisomy 21 – https://www.nhs.uk/conditions/downs-syndrome/