Non-invasive prenatal test NIFTY® Mono
An innovative genetic test designed to detect rare, clinically significant monogenic disorders that are often missed during routine screening. The test is performed from the mother’s blood, offers high accuracy, and can be done from the 10th week of pregnancy.
Greater clarity about rare genetic disorders – early in pregnancy
Some serious genetic disorders, such as osteogenesis imperfecta or Crouzon syndrome, can occur spontaneously – even if there have never been such cases in the family. They are often not detected by routine ultrasound examinations, especially in early pregnancy. NIFTY® Mono makes it possible to safely assess fetal risk for rare but clinically important monogenic disorders from as early as week 10, helping parents make informed decisions about pregnancy care.
What does NIFTY® Mono test for?
NIFTY® Mono is an advanced non-invasive prenatal test designed to evaluate fetal risk for rare, dominant monogenic disorders. Based on next-generation sequencing (NGS), it detects spontaneously occurring (de novo) mutations that are often missed by standard testing.
Screens for dominant monogenic disorders that arise without inheritance (spontaneously)
Uses advanced NGS technology to analyse fetal genetic information
Screens 202+ disorders (155 genes, 6,246 variants)
Intended for singleton pregnancies where the mother is not a carrier of the disorder
Particularly relevant for couples where the father is aged ≥40 years
More clarity and safety–before your baby is born
NIFTY® Mono helps assess fetal risk for rare, spontaneously occurring genetic disorders that may not present with structural changes on ultrasound. The test supports better-informed decisions about pregnancy monitoring and any next steps.
Detects rare but important conditions
Identifies genetic changes associated with severe syndromes affecting bone, heart, brain development, and more.
Relevant even without a family history
Most of the mutations screened for occur spontaneously – even when there is no history of the condition in the family.
Non-invasive and completely safe
Performed from a maternal venous blood sample – no risk to the fetus or the pregnant woman.
Available from week 10 of pregnancy
The earlier the test is performed, the more time there is to prepare for next steps.
When and for whom is the test recommended?
When expecting without a clear hereditary background
Especially valuable when there is no family history of genetic disorders, but you want to reduce the chance of unexpected findings.
When the father is aged ≥40 years
Increased paternal age can be a risk factor for spontaneous genetic mutations – the test helps assess this.
When seeking greater clarity after routine testing
Even if ultrasound results are normal, some monogenic disorders may remain undetected without additional screening.
If it’s important to know more in the first trimester
The test can be performed from the 10th week – earlier information means more time to prepare.
NIFTY® Mono reliability: accuracy and quality metrics
The test uses next-generation sequencing (NGS), enabling accurate detection of fetal DNA mutations in maternal blood. It is one of the most accurate non-invasive approaches to assessing the risk of rare monogenic disorders early in pregnancy.
99% sensitivity and specificity
NGS technology – screens 202 disorders
Genetically informed fetal health screening
Take the NIFTY® Mono screening test and find out whether your baby has an increased risk of rare genetic disorders.
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.
NIFTY® Mono is a non-invasive prenatal test (NIPT) designed to assess the risk of dominant monogenic disorders in the fetus. The test focuses on clinically significant, potentially life-impacting genetic conditions that often are not associated with ultrasound findings in the first – or even the second – trimester.
The test detects dominant monogenic disorders caused by spontaneous (de novo) mutations. Because these are not inherited, family history is often not a reliable risk indicator. NIFTY® Mono is particularly relevant when paternal age is ≥40 years, a known risk factor for such mutations.
The test is performed using next-generation sequencing (NGS). It demonstrates very high sensitivity and specificity (>99%) and is completely safe for both the fetus and the pregnant woman – performed from a venous blood sample taken from ≥10 weeks of pregnancy.
The test helps identify genetic disorders such as Crouzon syndrome, Apert syndrome, osteogenesis imperfecta, and other clinically significant dominant monogenic disorders.
NIFTY® Mono 202+ covers 202 disorders, analysing 155 target genes and 6,246 mutation variants.


