NIFTY is a sequencing-based prenatal screening test that uses a maternal peripheral blood sample to assess the risk of common fetal chromosomal abnormalities from week 10 of pregnancy.
NIFTY is independently developed by BGI Genomics and combines cell-free DNA extraction, low-depth whole-genome sequencing and bioinformatics analysis. It screens for trisomy 21, trisomy 18 and trisomy 13, with optional expansion for sex chromosome aneuploidies, rare autosomal aneuploidies and Y chromosome information.
The test supports singleton, twin and IVF pregnancies, helping clinicians and expectant parents access early risk information through a simple maternal blood draw.
Over 99% sensitivity reported for trisomy 21, 18 and 13 screening.
Non-invasive blood-based screening with no procedure-related risk to mother or fetus.
Available from week 10 of pregnancy for eligible clinical scenarios.
BGI NIPT solutions are used globally across large-scale prenatal screening programs.
NIFTY focuses on core trisomy screening and can be configured with optional add-ons depending on clinical requirements and local availability.
| Screening item | NIFTY | NIFTY Pro |
|---|---|---|
| T21, T18, T13 | Included | Included |
| Sex chromosome aneuploidies | Optional | Included |
| Rare autosomal aneuploidies | Optional | Included |
| Microdeletions / duplications | Not applicable | Expanded CNV screening |
| Y chromosome | Optional | Optional |
Designed for a straightforward clinical pathway from ordering through reporting.
Physician orders the screening test.
Maternal peripheral blood sample is collected.
Sample is prepared, sequenced and analyzed.
Results are sent back to the physician.
NIFTY is a screening test and is not a standalone diagnostic test. Confirmatory diagnostic testing should be considered before irreversible pregnancy-management decisions.
NIFTY brings together early sample collection, sequencing-based analysis and a simple reporting pathway so healthcare providers can discuss chromosomal risk with patients sooner in pregnancy.
Core screening for trisomy 21, trisomy 18 and trisomy 13, with optional expansion depending on the selected service model.
Only a maternal peripheral blood draw is needed, making the test easier to fit into routine prenatal visits.
BGI reference materials describe results in up to 5 working days for applicable offshore service models; local timing depends on laboratory configuration.
BGI materials cite use across more than 20 million pregnancies worldwide for NIFTY and NIFTY Pro services.
NIFTY is intended for pregnant women at 10 weeks of pregnancy and above. The test analyzes cell-free DNA from maternal blood to estimate fetal chromosomal abnormality risk.
It can support prenatal screening pathways for singleton pregnancies, twin pregnancies, and IVF pregnancies, subject to physician assessment and local service availability.
Results should be interpreted by qualified healthcare professionals within the full clinical context.
Requires more than 5 mL maternal peripheral blood, or 2 mL plasma in local laboratory workflows.
Available from week 10 of pregnancy for eligible patients.
Uses a blood draw, avoiding procedure-related risk to the mother or fetus.
NIFTY uses low-depth whole-genome sequencing and bioinformatics analysis to evaluate chromosomal risk signals from maternal plasma cell-free DNA.
Maternal plasma contains fetal cell-free DNA fragments that can be evaluated through sequencing.
BGI sequencing platforms use DNA nanoball technology designed for high-density sequencing workflows.
Automated analysis supports chromosomal risk assessment and report generation.
Laboratories can configure sample preparation, sequencing and HALOS analysis for local implementation.
BGI reports that NIFTY and NIFTY Pro have been supported by large-scale validation and extensive clinical use. The brochure cites over 13 million samples processed worldwide and more than 70 publications supporting performance.
For common trisomies, the brochure reports high sensitivity and specificity across trisomy 21, 18 and 13. Positive screening results still require confirmatory diagnostic testing.
| Validation area | Reported information |
|---|---|
| Common trisomies | High sensitivity and specificity reported for T21, T18 and T13. |
| Clinical scale | Over 13,000,000 samples processed worldwide in BGI materials. |
| Evidence base | More than 70 publications referenced by BGI for NIPT performance. |
| Confirmatory testing | Required before irreversible pregnancy-management decisions. |
NIFTY can be presented as an offshore service pathway or as a local laboratory workflow where regional capability, sample volumes and regulatory requirements support local implementation.
NIFTY provides risk information. A high-risk result is not a diagnosis and should be followed by clinical review, genetic counselling where appropriate, and confirmatory diagnostic testing before pregnancy-management decisions.
Low-risk results reduce the estimated risk for the screened conditions, but do not exclude every chromosomal or genetic condition and do not replace ultrasound or routine prenatal care.
BGI's local laboratory solution can combine automation platforms, sequencing systems, CE-certified kits and HALOS analysis. Configuration depends on volume, throughput, staffing, and regional availability.
The brochure outlines support across laboratory design review, equipment installation, on-site training, parallel testing, software upgrades, application support, and after-sales service.