Introduction to NIFTY®

NIFTY is a non-invasive prenatal screening test (or cell-free DNA screening) for pregnant women to assess the risk that the fetus will be born with certain chromosomal abnormalities. NIFTY is available for singleton, twin and egg donor pregancies. Well-trusted in more than 11,520,000 pregnancies globally, NIFTY can assess conditions that may affect your baby's health by doing a simple blood draw on you. NIFTY screens for common chromosomal abnormalities, including trisomies, sex chromosome aneuploidies, and microdeletion/duplication syndromes, and can provide information about the sex of your babies.

According to American College of Obstetricians and Gynecologists (ACOG), cell-free DNA screening should be offered to all patients all pregnant patients regardless of maternal age or risk of chromosomal abnormality. Cell-free DNA screening is the most sensitive and specific screening test for common fetal aneuploidies1.

Conditions screen for :

  • Trisomies (T21, T18, T13)
  • Sex chromosomal aneuploidies
  • Fetal sex

Conditions screen for :

  • Trisomies (T21, T18, T13)
  • Rare autosomal aneuplodies (T9, T16, T22)
  • Sex chromosomal aneuploidies
  • 84 types of Microdeletions/duplications syndromes
  • Other aneuploidies
  • Incidental Findings
  • Fetal sex

*The data in the table are based on past literature and Internal data[1],[2],[3],[4], and only reflect past testing conditions, and do not represent the actual situation or promised value of the tested samples.

NIFTY® Test Options

NIFTY® can be offered with different test options to suit local market needs. The full scope of testing options is listed below.

*Testing services for trisomy conditions 21, 18 and 13 are available for twin pregnancies, egg donor pregnanciesand IVF pregnancies. Other testing options may not be available for twin pregnancies, egg donor pregnanciesand IVF pregnancies.
**For a detailed breakdown of the individual deletions and duplications that can be tested for, please
***In the case of twin pregnancies, the NIFTY test can show if at least one of the foetuses is male, or whetherboth foetuses are female.


To undergo the NIFTY® test, a pregnant woman should receive comprehensive information regarding non-invasive prenatal testing and non-directive advice on human genetics from a qualified health professional. The NIFTY® test is available from the 10th week of pregnancy.

The NIFTY® test is suitable for, but not limited to,patients who exhibit any of the following indications

  • All age of Pregnancies for screening

  • 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

  • Requires reassurance following previous screening result

  • Received IVF Treatment or has previosuly suffered from habitual abortion

The NIFTY® test is not suitable for patients with the following indications

  • Maternal, fetal and/ or placental mosaicism (mixtures of chromosomally normal and abnormal cells in the pregnancy)

  • Balanced or unbalanced translocation and chromosomal inversion

  • Patients who have received a blood transfusion within one year prior to testing date

  • Patients who have had transplant surgery

  • RPatients who have had stem cell therapy

  • Vanishing twin syndrome (with developmental arrest identifhed has having occurred after week 8 of pregnancy and/or within 8 weeks of NIFTY@ testing)

How to choose from NIFTY® & NIFTY® Pro

NIFTY® offers comprehensive prenatal screening options, including:

  • T21, T18, T13

  • Rare autosomal aneuploidies (T9, T16, T22)

  • Other aneuploidies

  • Sex chromosome aneuploidy (XO, XXY, XXX, XYY)

  • Microdeletions/duplications syndromes (CNVs) (84 types for now and continuously updating)

  • Y Chromosome (Fetal sex)

  • Incidental Findings

NIFTY® workflow

  • 1

    Conduct pre-test genetic counseling and ensure patient provides informed consent for test

  • 2

    Discuss and fill in the NIFTY® Consent Form/Test Request Form with the patient

  • 3

    Conduct blood draw

  • 4

    Send scanned copies of Consent Form/Test Request Form and information sheet to BGI

  • 5

    Arrange collection of the blood sample with a courier

  • 6

    Send Consent Form/Test Request Form with blood sample to BGI laboratory

  • 7

    Receive results back in 10 working days

  • 8

    Conduct pre- and post-test genetic counseling and provide drug guidance advice as required


1.Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W. 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.

2.Liu H, Gao Y, Hu Z, Lin L, Yin X, Wang J, Chen D, Chen F, Jiang H, Ren J, Wang W. Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA. PLoS One. 2016 Jul 14;11(7):e0159233. doi: 10.1371/journal.pone.0159233. PMID: 27415003; PMCID: PMC4945049.

3.Song JP, Jiang YF, Gao TX, Yao YY, Liu LJ, Xu RH, Yi MQ, Yu CJ, Wang WP, Li H. Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making. Chin Med J (Engl). 2020 Jul 5;133(13):1617-1619. doi: 10.1097/CM9.0000000000000868. PMID: 32501830; PMCID: PMC7386330.

4.Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics. 2012 Dec 1;5:57. doi: 10.1186/1755-8794-5-57. PMID: 23198897; PMCID: PMC3544640.