| Purpose | The NIFTY® Test offers screening for some of the most common trisomies present at birth, including- Trisomy 21 (Down Syndrome),
- Trisomy 18 (Edwards Syndrome)
- Trisomy 13 (Patau Syndrome).
NIFTY® also provides testing options for sex chromosomal aneuploidies, chromosomal deletions /duplications and gender. NIFTY® was the first NIPT to enter clinical testing in 2010 and has been validated by a study on nearly 147,000 pregnancies. More than 11,520,000 NIFTY tests have been carried out worldwide. NIFTY® Test may also be used to test;- Twin Pregnancy (trisomies 21, 18 and 13)
- IVF Pregnancy Egg Donor Pregnancy
Sex Chromosome Aneuploidies: Monosomy X (Turner Syndrome), XXY (Klinefelter Syndrome), XXX (Triple-X Syndrome), XYY (Jacobs syndrome), Sex Indication, Y Chromosome detection.
NIFTY® Test is suitable for patients having following indications.- Maternal age 35 years or older at delivery.
- Contraindications for invasive prenatal testing, such as placenta prevaria, risk of miscarriage, HBV infection etc.
- History of a prior pregnancy with a chromosomal abnormality
- Fetal ultrasonographic findings indicating an increased risk of T21, T18 or T13.
- Received IVF Treatment or has previously suffered from habitual abortion.
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| Test Code | NIFTY® |
| Turnaround Time (TAT) | 15 Days |
| Sample Tested | NIFTY® Test - Plasma 2ml (4 tubes required); Stored in 1.5ml Eppendorf tubes, and sealed with 1cm wide parafilm (Stored at -80 ˚C, shipped with dry ice within one week.)
- This test is designed to detect individuals with a germline pathogenic variant, and is not validated to detect mosaicism. It should not be ordered on tumor tissue.
- •Maternal Blood (10ml); Gently invert the tube ten times immediately after blood sampling. Stored and shipped between 6~35 ˚C within 4 days. Keep the tubes upright during shipping.
- This test available from 10th week of pregnancy
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| Methodology | -
Cell-Free DNA and Cell-Free Fetal DNA: Cell-free DNA fragments
(cfDNA) are short fragments of DNA which can be found circulating in
the blood. During pregnancy, cfDNA fragments originating from both the
mother and fetus are present in maternal blood circulation. Cell-free
fetal DNA (cffDNA) is present only as a minority component of the
total cfDNA in maternal plasma which is analyzed by NGS to detect for
chromosomal abnormality. If aneuploidy is present, counts of the
affected chromosome can be detected in the forms of sequencing reads
and are compared with unaffected chromosomes. The increase in reads
per chromosome informs about its trisomy.
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NIFTY® test works by isolating the cfDNA (including both maternal and
fetal DNA) from a maternal blood sample and performing low coverage
whole genome sequencing
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Unique reads of each chromosome are calculated and compared to an
optimal reference control sample.
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Data is analyzed using BGI's proprietary bioinformatics algorithms and
a risk score and/or assessment is produced for trisomies.
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For gender identification, cfDNA is followed with molecular genetic
testing to analyze if Y chromosome is detected or not detected.
- Genetic Counselling.
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| Advantages | NIFTY® Test- SAFE (Non-invasive with no risk of miscarriage)
- ACCURATE (Proven >99% sensitivity based on a study of nearly 147,000 pregnancies).
- TRUSTED (Over 2,000,000 NIFTY® tests carried out to date).
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