NextGen NIPS Advanced

• NextGen NIPS Advanced is intended for use in pregnant women between 10-17 weeks of pregnancy and who are at high risk for the chromosomal aneuploidies.
• NextGen NIPS Advanced is recommended for pregnant women to screen for chromosomal diseases that are brought on by an extra or missing copy of a chromosome (aneuploidy).
• NextGen NIPS Advanced is used to determine the risk for the foetus being born with certain genetic abnormalities such as:

• Down syndrome (trisomy 21, caused by an extra chromosome 21)
• Edwards syndrome (trisomy 18, caused by an extra chromosome 18)
• Patau syndrome (trisomy 13, caused by an extra chromosome 13)
• Extra or missing copies of the X chromosome and Y chromosome, the sex chromosomes)
• Aneuploidies (missing (deleted) or copied (duplicated) sections of a chromosome)

• NextGen NIPS Advanced is recommended for all types of pregnancies.
• NextGen NIPS Advanced is offered to all women after at least 10 weeks of pregnancy.
• NextGen NIPS Advanced is recommended as the first line of screening for all pregnancies, irrespective of the risk.
• NextGen NIPS Advanced is especially significant if the woman is above 30 years of age.

NextGen NIPS Advanced measures foetal cell-free DNA (cfDNA) in the mother’s bloodstream to be able to identify foetal chromosomal or genetic abnormalities including rare autosomal aneuploidies (RAA).

This test requires a blood sample. A tourniquet (elastic) band is placed tightly on the upper arm. The patient is then asked to make a fist. This helps in the build-up of blood filling the veins. The skin is disinfected before needle insertion and the blood sample is collected in vacutainer.

The test is performed on ION Genestudio S5 Plus NGS platform and involves isolation of cell free fetal DNA from maternal blood, generation of genomic DNA library, high throughput sequencing of extracted cell free fetal DNA and calculation of molecular mass of fetal DNA in chromosomes. Chromosomal aneuploidies can then be detected using bioinformatics analyses (Sage 12plex analytic program version v.1) where the detection rate and sensitivity are over 99%.

A "low risk" result indicates that there is often very little probability that the baby will have trisomy 21, trisomy 18, or trisomy 13 or any other aneuploidies. A "high risk" indicates that the infant is likely to have one of these chromosomal errors and may result due to true fetal abnormality, fetal mosaicism, placental mosaicism, fetal uniparental disomy, or maternal findings. If your NIPT result is "high risk," you should consult a genetic counsellor who can explain your results, offer assistance, go over your options, and set up additional testing as necessary.

To be able to detect foetal chromosome abnormalities, there must be sufficient foetal cfDNA in the mother's bloodstream. The foetal fraction is the percentage of cfDNA in maternal blood that originates from the placenta. The foetal percentage must normally be greater than 4%, which happens during the ninth week of pregnancy. Low foetal fractions may prevent the test from being run or result in a false negative. Low foetal fractions can be caused by foetal abnormalities, sampling mistakes, maternal obesity, and testing too early in the pregnancy.