NIFTY® is one of the most advanced NIPT technologies, trusted by over 15 million expectant mothers worldwide. With high performance and numerous innovations, the NIPT test using NIFTY® technology at DIAG allows for the screening of over 100 genetic syndromes associated with chromosomal abnormalities in the fetus, ensuring more effective prenatal care.

NIFTY® Technology by BGI Genomics

BGI Genomics (Beijing Genomics Institute) is one of the world’s leading organizations in genome sequencing and genetic testing. In 2008, BGI Genomics became one of the first companies globally to research and develop Non-Invasive Prenatal Testing (NIPT), enabling the early detection of fetal chromosomal abnormalities using a small maternal blood sample.

Key Achievements of BGI Genomics:

  • 15,000,000+ samples analyzed worldwide: making BGI the largest provider of NIPT tests globally.
  • 1,000,000+ NIPT samples processed annually: demonstrating BGI the only provider of NIPT with the highest capacity.
  • 100+ research projects: establishing BGI as one of the most experienced institutions in medical research and clinical application of NIPT supported by government-backed initiatives.
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Karyotype **
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Enhanced NIFTY® Technology with High Performance

The NIFTY® test has been developed by BGI Genomics and validated through the largest-scale clinical study on NIPT, involving over 146,000 samples from more than 500 medical centers. The study was conducted between January 2011 and August 2023* and established in the journal “Ultrasound in Obstetrics and Gynecology” in 2015.

The study results indicated that, out of 147,314 participants with a total of 146,958 samples met quality standards, there are 1,066 cases testing positive and 111,603 cases testing negative for NIPT, demonstrating an exceptionally low false-positive rate of less than 0.05%.

BGI Genomics – a leading organization in the field of genomics and genetic testing – developed NIFTY® technology, which has been trusted by more than 15 million pregnant women globally.
BGI Genomics – a leading organization in the field of genomics and genetic testing – developed NIFTY® technology, which has been trusted by more than 15 million pregnant women globally.

NIFTY® is one of the most modern NIPT technologies widely used globally. Thanks to multiple innovations and high performance, NIPT tests using NIFTY® technology have gained worldwide popularity and are trusted by over 15 million mothers.

Whole Genome Sequencing (WGS) technology: NIFTY® provides a comprehensive, objective, and expanded approach to NIPT.

Sequencing depths reaching up to 25 million reads: NIFTY® significantly improves the detection of microdeletions and microduplications, minimizing the likelihood of missed chromosomal variants as well as ensuring greater diagnostic accuracy and reliability.

The NIFTY® technology utilizes the Sequencer DNBSEQ-G50, which enhances performance and ensures reliability in detecting chromosomal abnormalities through the NIPT test.
The NIFTY® technology utilizes the Sequencer DNBSEQ-G50, which enhances performance and ensures reliability in detecting chromosomal abnormalities through the NIPT test.

Advanced fetal DNA enrichment method: The method uses magnetic bead technology to enhance fetal fraction (FF%) to 75%, substantially reducing the need for sample retesting and improving overall test efficiency.

Advanced statistical algorithms: NIFTY® incorporates Hidden Markov Model (HMM) and Linear Discriminant Analysis (LDA) to optimize the detection of microdeletions / duplications, increase Positive Predictive Value (PPV) and minimize gray zones for high accurate results. These advancements enhance the reliability of NIPT, ensuring the delivery of clinically meaningful results, reducing false-positive rates and minimizing uncertainty in clinical decision-making.

Over 90 types of microdeletion / microduplication syndromes are detected: NIFTY® has the capability to detect a wide range of microdeletions and microduplications, identifying up to 92 types based on strict inclusion and exclusion criteria. Additionally, it adheres rigorously to established guidelines beside random microdeletions / microduplications detections larger than 5 Mb.

CAP, CE-IVD, NMPA-IVD Certifications: NIFTY® has achieved prestigious international certifications, affirming its accuracy, reliability, and compliance with global medical standards.

  • CAP Certification is the highest global quality certification for clinical laboratories, ensuring that tests are accurate, reproducible, and compliant with the strict regulations of the U.S. healthcare system.
  • CE-IVD Certification is the mandatory approval for in vitro diagnostic (IVD) devices in Europe, demonstrating that NIFTY® technology meets EU safety and efficacy standards.
  • NMPA-IVD Certification is the Chinese regulatory approval equivalent to the U.S. FDA, ensuring that NIFTY® meets high-quality standards and accuracy requirements for widespread use in China.

HALOS (Health Analysis in One-Step): The HALOS system is an integrated and automated data analysis platform for NIPT processing. It enables rapid and real-time report generation. HALOS seamlessly connects with BGI’s proprietary DNBSEQ™ sequencing technology, expanding analysis capabilities while maintaining high performance. Additionally, HALOS can operate offline to ensure data security and confidentiality.

The HALOS Bioinformatics Analysis Server expands analytical capabilities while maintaining high testing performance.
The HALOS Bioinformatics Analysis Server expands analytical capabilities while maintaining high testing performance.

Choose Medical DIAG Center’s NIPT – Peace of Mind for Pregnant mothers and Fetuses

The DIAG’s NIPT utilizes NIFTY®, which ensures high accuracy and efficiency. This advanced screening technology is built on the largest global clinical study, analyzing over 145,000 samples collected from more than 500 medical centers between 2011 and 2013*.

The performance of the NIFTY® screening method was recognized in the New England Journal of Medicine (NEJM) in 2015, where it was noted for having the lowest false positive rate among NIPT tests. This provides reassurance for doctors when recommending the test**.

The NIPT offered at Medical DIAG Center enhances screening accuracy by reducing the false-negative rate, lowering the need for retesting by 50%, and improving the detection of chromosomal abnormalities. NIPT can identify over 100 chromosomal abnormalities, including autosomal aneuploidies, sex chromosome aneuploidies and rare microdeletions/duplications.

Learn more about NIPT testing at DIAG: https://diag.vn/panel/goi-xet-nghiem-nipt/

Dangerous syndromes related to chromosomal abnormalities in the fetus that can be detected by NIPT at DIAG:

Three most common Trisomy disorders:

  • Down Syndrome (Trisomy 21)
  • Edwards Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)

Four sex chromosomal aneuploidies:

  • Turner Syndrome (XO)
  • Triple X Syndrome (XXX)
  • Klinefelter Syndrome (XXY)
  • Jacob Syndrome (XYY)

Autosomal aneuploidies:

  • Trisomy 9
  • Trisomy 16
  • Trisomy 22

Microdeletion and Microduplication syndromes (92 types):

  • DiGeorge Syndrome
  • Cri-du-Chat Syndrome
  • Smith-Magenis Syndrome
  • Prader-Willi Syndrome
  • 1p36 Deletion Syndrome
  • 4p16.3 Deletion Syndrome
  • 18q Deletion Syndrome
  • 18p Deletion Syndrome
  • 9p Deletion Syndrome
  • Jacobsen Syndrome

Source:

* Zhang H et al., Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8. doi: 10.1002/uog.14792. Epub 2015 Apr 8. Erratum in: Ultrasound Obstet Gynecol. 2015 Jul;46(1):130. PMID: 25598039

** Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med 2015;372:1675-7. DOI: 10.1056/NEJMc1412222