NIFTY Pro expands beyond common trisomies with screening for sex chromosome aneuploidies, rare autosomal aneuploidies and pathogenic chromosomal deletions or duplications.
NIFTY Pro builds on the standard NIFTY test by adding broader chromosome screening. It screens for T21, T18 and T13 and expands detection for sex chromosome aneuploidies, rare autosomal aneuploidies and chromosomal copy-number variants.
The workflow uses maternal cell-free DNA, low-depth whole-genome sequencing and bioinformatics analysis to generate physician-directed screening results.
The brochure workflow supports completely local testing and local analysis, with automation, sequencing, bioinformatics and reporting configured to sample volume.
Automated extraction, enrichment, library construction, pooling and DNB making.
DNBSEQ-G99, DNBSEQ-G50 or DNBSEQ-G400 options based on throughput needs.
HALOS analysis supports NIFTY and NIFTY Pro mixed-sample workflows.
Automated analysis and report generation for clinician review.
Laboratories can select sequencing configurations according to project scale and sample volume.
| Sequencer | NIFTY samples / flow cell | NIFTY Pro samples / flow cell | Sequencing time |
|---|---|---|---|
| DNBSEQ-G99 | 12 | 3 | About 3 hours |
| DNBSEQ-G50 | 48 | 12 | About 9 hours |
| DNBSEQ-G400 | 192 | 48 | About 12 hours |
NIFTY Pro is a screening test and is not a standalone diagnostic test. Confirmatory diagnostic testing should be considered before irreversible pregnancy-management decisions. Availability and exact specifications may vary by region and service model.
NIFTY Pro helps clinicians move beyond the three common trisomies when broader chromosomal risk information is requested. It is designed to support physician-led counselling, not replace diagnostic testing.
BGI reference materials describe NIFTY Pro as covering more than 100 genetic conditions across common trisomies, SCAs, RAAs and CNVs.
Approximately 25 million reads per sample are used for the expanded NIFTY Pro workflow described in the brochure.
Reference materials describe expanded microdeletion and microduplication screening, including 22q11.2 deletion in the listed CNV set.
Supports offshore service models or localized laboratory workflows depending on regional program needs.
NIFTY Pro is designed for a broader prenatal screening view than standard NIFTY. In addition to T21, T18 and T13, it expands screening to sex chromosome aneuploidies, rare autosomal aneuploidies and chromosomal copy-number variants.
The brochure states that NIFTY Pro detects over 100 genetic conditions and uses approximately 25 million reads per sample to support expanded CNV detection.
| Area | NIFTY Pro scope |
|---|---|
| Common trisomies | T21, T18, T13 |
| SCAs | Included in expanded screening |
| RAAs | Included in expanded screening |
| CNVs | Microdeletion / duplication screening, including 22q11.2 deletion in the 92-CNV set described in the brochure |
| Y chromosome | Optional |
The brochure highlights fetal fraction enrichment, optimized CNV algorithms and DNBSEQ sequencing technology as key contributors to the NIFTY Pro workflow.
Fragment selection can enrich fetal cell-free DNA concentration by 1.5 to 2.0 times in the described process.
Higher data output supports improved CNV detection, including smaller fragments at relevant fetal fractions.
DNA nanoball sequencing technology supports accurate, high-density sequencing workflows.
HALOS can support offline analysis, automated reporting and mixed NIFTY / NIFTY Pro sample analysis.
The local laboratory solution can be configured around sample volume and throughput needs. BGI materials describe three automation options for NIFTY and NIFTY Pro workflows.
| Solution | Automation | Approx. TAT | Technician |
|---|---|---|---|
| Solution 1 | 1-16 samples/run | About 13.5 hours | 1 person |
| Solution 2 | 1-48 samples/run | About 23.5 / 27.5 hours | 1 person |
| Solution 3 | 1-96 samples/run | About 25 hours | 1 person |
The HALOS-NIFTY workflow described in the brochure supports NIFTY and NIFTY Pro analysis on compatible DNBSEQ platforms. Mixed sample testing can help laboratories avoid waiting for a single sample type to fill a run.
The brochure gives a mixing formula where one NIFTY Pro sample is treated as four NIFTY samples for capacity planning across supported sequencers.
| Sequencer | Lane no. | Mixing formula |
|---|---|---|
| DNBSEQ-G99 | 1 | A + 4B <= 12 |
| DNBSEQ-G50 | 1 | A + 4B <= 48 |
| DNBSEQ-G400 | 4 | A + 4B <= 192 |
A = NIFTY samples. B = NIFTY Pro samples. Final workflow planning should follow current BGI / Genient technical guidance.
NIFTY Pro reports screening risk. Positive findings should be confirmed using a diagnostic method before irreversible clinical decisions, and low-risk results do not rule out all fetal or maternal genetic conditions.
Exact covered conditions, sample acceptance rules, turnaround time and reporting format should be confirmed for the current Genient and BGI service pathway before launch.
The brochure states that instruments, reagents, software and sampling kits in the localization solution have obtained CE certification, with global cold-chain logistics support.
HALOS is described with offline analysis support, disaster recovery, and optional connection to laboratory systems as needed.
Technology transfer services include installation, training, kit performance testing, parallel testing, software upgrades, application support and field service support.
NIFTY Pro does not replace ultrasound, clinical assessment, genetic counseling or diagnostic testing when indicated. Performance, availability and service details may change by market.