NIFTY® Single-gene Screening (NIFTY® mono)

NIFTY® Single-Gene Screening (NIFTY® mono) is a non-invasive prenatal screening test designed to detect serious genetic disorders caused by changes in specific fetal genes that cannot be diagnosed using traditional NIPT methods.

Unlike standard prenatal screening tests, which primarily focus on detecting trisomies and major chromosomal abnormalities, NIFTY® mono allows for the identification of risks associated with a range of severe inherited syndromes and monogenic disorders, including cardiomyopathy-fascial-cutaneous syndromes, premature aging syndromes, skeletal development disorders, and other life-threatening conditions.

Benefits of NIFTY® Single-Gene Screening

• Broader detection range: The screening covers 27 monogenic disorders associated with variations in 18 genes;
• Early testing: possible as early as the 10th week of pregnancy;
• High analytical accuracy: sensitivity and specificity exceeding 99%;
• Safety: the method is based on non-invasive analysis of fetal DNA in the mother’s blood;
• detection of the risk of new (“de novo”) mutations, which often have no family history.

Technology

The test is based on target capture methods using unique molecular identifiers (UMIs) and high-throughput next-generation sequencing (NGS), which ensures extremely accurate detection of genetic changes even with minimal amounts of fetal DNA. The sample used is the mother’s peripheral blood.

Indications for testing:

•  Father’s age over 40, which is associated with an increased risk of de novo mutations.
•  Presence of ultrasound findings suggestive of possible monogenic disorders (e.g., shortening of long bones, increased nuchal translucency).
•  Desire to avoid invasive procedures (amniocentesis or chorionic villus sampling).

Conditions detected by screening: