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The NIFTY Test Pro: the most accurate method for detecting Down syndrome and other chromosomal abnormalities

What is NIFTY® test Pro?

The NIFTY® test (Non-Invasive Fetal TrisomY test) was the first NIPT to enter clinical testing in 2010, providing screening for the most common trisomies present at birth, as well as testing options for gender, sex chromosome aneuploidies and chromosomal deletions. For providing a more comprehensive test to mothers, NIFTY® finished her upgrade by the end of March in 2018, becoming NIFTY® Pro that can test for Trisomy 21, 18, 13, 9, 16 and 22 and sex chromosome aneuploidies and 84 kinds of microdeletion/duplication syndromes with four times of data size increased.

To date, over 4,000,000 NIFTY® tests have been performed worldwide. The NIFTY® Pro test is now brought to you by BGI.

What kind of abnormalities can be detected with NIFTY® test Pro?


A trisomy is a type of aneuploidy in which there are three chromosomes instead of the usual pair. Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are the three most commonly occurring autosomal chromosome aneuploidies in live births. These chromosomal conditions are caused by the presence of an extra copy or partial copy of chromosome 21, 18 or 13 respectively. This additional genetic material can cause dysmorphic features, congenital malformation and different degrees of intellectual disability.

Sex Chromosome Aneuploidies

Sex chromosome aneuploidy is defined as a numeric abnormality of an X or Y chromosome, with addition or loss of an entire X or Y chromosome. Although most cases of sex chromosome aneuploidies are generally mild without intellectual disability, some have a well-established phenotype that can include physical abnormalities, learning delays and infertility.

Microdeletion / duplication syndromes

Besides common chromosomal aneuploidies of T21, T18, T13, chromosomal microdeletion/duplication syndromes (also called chromosomal copy number variation, CNV) can also cause serious birth defects and health problems. Prevalence of these conditions are ranged from 1/4000 to 1/200000, with fragment size from 100K to over 10M. Some of them have even a higher prevalence than Trisomy 13, such as DiGeorge syndrome, which is resulted from a small part of deletions on chromosome 22. For pregnant women under 40 years old, the probability for being affected by microdeletions is even higher than that of Down syndrome.

Who we recommend the NIFTY® test Pro?

The NIFTY® test Pro is available to any pregnant woman from the 10th week of pregnancy but is particularly suitable for pregnant women who exhibit certain indications which are highlighted below.

Remember, non-invasive prenatal testing may or may not be right for you. Prior to undertaking any non-invasive prenatal testing, you should consult a qualified healthcare professional regarding any risks, diagnoses, treatment and/or any other potentially relevant healthcare issues. Non-invasive prenatal testing is not diagnostic, which means that is does not test with 100% accuracy.

The NIFTY® test Pro is suitable if you exhibit any of the following indications:

  • Maternal age 35 years or older at delivery
  • Fetal ultrasonographic findings indicating an increased risk of aneuploidy
  • Require reassurance following previous screening result
  • Contraindications for invasive prenatal testing, such as placenta prevaria, risk of miscarriage or HBV infection
  • History of a prior pregnancy with a trisomy
  • Received IVF Treatment or have previously suffered from habitual abortion

What Does NIFTY® and NIFTY® Pro Report Involve?

You will usually get your NIFTY® or NIFTY® Pro report in five to seven working days after your sample’s posted to BGI.

The report will tell you your baby’s probability of being affected by Trisomy 21, Trisomy 18, Trisomy 13, and if being at high risk or low risk. It will also tell you if your baby is at high risk or low risk in condition of Trisomy 9, Trisomy 16, Trisomy 22, and sex chromosome aneuploidies. Other findings include microdeletion/duplication syndromes and other chromosomal aneuploidies will be indicated on the report if detected.


The NIFTY® test has been validated by the world’s largest study with 146,958 pregnancies on the clinical performance of NIPT to date.

The main advantages of NIFTY® test Pro

  • Comprehensive – 84 kinds of microdeletion and microduplication syndromes including Di George Syndrome
  • Accurate – with 25M data size, increased analytic quality
  • Safe – no risk of miscarriage
  • Early – screen from week 10 of pregnancy
  • Fast – results delivered in under 10 working days

Note: the NIFTY test is considered a screening test, not a diagnostic test. NIFTY does not screen for potential chromosomal or genetic conditions other than those expressly identified. Before making any treatment decisions, all women should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate.