ProNon-invasive prenatal tests NIFTY® and NIFTY® Pro

A reliable genetic test for pregnant women that enables safe and early assessment of the risk of fetal chromosomal abnormalities. The test is performed from the mother’s blood, using advanced sequencing and bioinformatics methods.

A calm start to pregnancy begins with screening

During pregnancy, it’s natural to feel anxious about the baby’s health, yet most fetal genetic conditions show no signs until birth. As the fetus develops, chromosomal changes can occur, leading to Down, Edwards, Patau, or other genetic conditions. The NIFTY® test makes it possible to assess the risk of these abnormalities safely and accurately before delivery, using just 6 ml of the mother’s blood. It is an advanced step toward informed – and more reassuring – parenthood.

What do the NIFTY® and NIFTY® Pro tests analyse?

NIFTY® is an advanced non-invasive prenatal test that evaluates the risk of fetal chromosomal abnormalities using the mother’s blood. It can be performed before birth with no risk to the fetus. The test analyses cell-free fetal DNA using next-generation sequencing and bioinformatics analysis methods.

The NIFTY® Pro version offers broader capabilities – additionally screening for rare microdeletions, microduplications, and detecting incidental chromosomal changes.

Trisomies of chromosomes 21, 18, and 13 (Down, Edwards, and Patau syndromes)

Sex chromosome aneuploidies (singleton pregnancies only)

Rare trisomies of chromosomes 9, 16, and 22, and other autosomal aneuploidies

92 microdeletion and microduplication syndromes (e.g., DiGeorge, Cri-du-Chat, Prader–Willi)

Incidental deletions or duplications >5 Mb

Option to determine fetal sex

Peace of mind starts with clarity

The NIFTY® test provides an opportunity to assess the risk of fetal chromosomal abnormalities early and safely.

With genetic information, you can reduce uncertainty-related stress, make better-informed decisions about pregnancy care, and prepare for your baby’s arrival.

Early information

The test can be performed from the 10th week of pregnancy, and results are provided within 7 business days of sample receipt.

High accuracy without risk

99% sensitivity for detecting Down, Edwards, and Patau syndromes – without any miscarriage risk, as the test is non-invasive.

Comprehensive genetic assessment

NIFTY® Pro includes 92 microdeletion and microduplication syndromes and incidental chromosomal changes >5 Mb.

Safe and trusted

More than 15 million tests have been performed worldwide to date – doctors in 80+ countries trust the NIFTY® methodology.

When and for whom is the test recommended?

For all pregnant women – regardless of age or risk factors

Based on recommendations from the American College of Obstetricians and Gynecologists (ACOG), cell-free DNA testing should be offered to all pregnant women, irrespective of age or baseline risk for chromosomal abnormalities.

If you want to avoid the risks of invasive procedures

NIFTY® is completely safe – performed from the mother’s blood with no risk to the fetus.

When planning pregnancy care or delivery

Early information about potential genetic conditions helps you prepare for appropriate care or consultations in time.

If there have been genetic abnormalities in the family or in previous pregnancies

The test allows earlier risk assessment and supports informed decisions about the next steps in pregnancy.

NIFTY® reliability: accuracy and quality metrics

NIFTY® is supported by data from more than 15 million tests performed worldwide. It uses advanced next-generation sequencing and bioinformatics analysis to ensure maximum reliability of results.

99% sensitivity for detecting Down, Edwards, and Patau syndromes

Clinical analysis of approximately 147,000 pregnancies

92 microdeletion and microduplication syndromes (NIFTY® Pro)

Reliable fetal health screening

Take the NIFTY® test from week 10 and receive accurate insights into your baby’s genetic status.

For Specialists

All key information in one place – from the genes analysed to test accuracy and clinical value. This section is intended for specialists who want a detailed understanding of the test rationale, structure, and practical applications.

What is an NIPT test?

Non-invasive prenatal testing (NIPT) is an advanced fetal genetic screening method that detects the risk of chromosomal abnormalities by analysing cell-free fetal DNA circulating in a pregnant woman’s blood. Unlike traditional biochemical or ultrasound-based screening, NIPT has a lower false-positive rate and higher sensitivity. It is recognised as the most sensitive and specific screening approach for fetal chromosomal abnormalities and, according to ACOG recommendations, should be offered to all pregnant women – regardless of age or risk factors.

The principle of the NIFTY® test

NIFTY® (Non-Invasive Fetal TrisomY test) is a safe, accurate, and non-invasive prenatal test performed from the mother’s blood, where cell-free fetal DNA circulates. Using advanced next-generation sequencing (NGS) technology and bioinformatics algorithms, the test assesses the likelihood of fetal chromosomal abnormalities. It can evaluate the risk of chromosomal aneuploidies, microdeletion/microduplication syndromes, and determine fetal sex.

How is the NIFTY® test performed?

Only 6 ml of the mother’s peripheral blood is required. Cell-free DNA is extracted from the sample, enriched for the fetal DNA fraction, and then whole-genome next-generation sequencing is performed. The resulting data are analysed using bioinformatics algorithms that calculate the proportions of chromosomal fragments and assess potential risks.

Which conditions does NIFTY® screen for?

NIFTY® evaluates the most common autosomal trisomies – T21 (Down syndrome), T18 (Edwards syndrome), and T13 (Patau syndrome) – as well as rarer trisomies of chromosomes 9, 16, and 22. It also detects sex chromosome aneuploidies such as monosomy X (Turner syndrome), XXY (Klinefelter syndrome), XXX (Triple X syndrome), and XYY (Jacobs syndrome), other autosomal aneuploidies, and fetal sex based on detection of the Y chromosome. Assessment of sex chromosome aneuploidies and fetal sex is available only in singleton pregnancies.

What additional coverage does NIFTY® Pro include?

NIFTY® Pro includes all NIFTY® capabilities and additionally enables detection of 92 microdeletion and microduplication syndromes, including Cri-du-Chat, 1p36 deletion, 2q33.1 deletion, Prader–Willi/Angelman, Jacobsen, DiGeorge, and Wolf–Hirschhorn syndromes, as well as incidental chromosomal abnormalities larger than 5 Mb.