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Synthetic cfDNA Platform Now Available

TRANSFORMING PRENATAL TESTING THROUGH AI

Every year, 350,000 families wait weeks for prenatal test results that never arrive. Our AI-enhanced platform will reduce test failures by 50-70%, enabling earlier answers and greater peace of mind.

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Conditions Supported
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Populations
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Foetal Fraction Validated

The Future of
Prenatal Testing

Our AI-enhanced platform addresses the fundamental limitations of current NIPT technology, enabling earlier detection and dramatically reducing test failures.

01

Ultra-Low Foetal Fraction Analysis

Reliable detection at 4%+ foetal fractions with standard sequencing. Roadmap target: 2% FF with high-depth sequencing (4M+ fragments), enabling testing from 7-8 weeks gestation.

50-70% reduction in test failures
02

AI Foundation Model

State-of-the-art foundation model trained on unlimited synthetic data, enabling pattern recognition across 100-1000x larger datasets than any real-world collection.

10M+ synthetic samples for training
03

Earlier Detection Window

Results available 2-3 weeks earlier than current technology. Fewer repeat tests, earlier answers, and reduced anxiety for families during critical decision-making periods.

Testing from 10 weeks (target: 7-8 weeks with high-depth)
04

Population-Specific Equity

Actively addressing disparities in prenatal testing. Support for multiple ancestries including European, African, East Asian, South Asian, and Admixed American populations.

Equitable outcomes across all populations
05

Clinically Validated

Rigorous 4-level validation framework ensuring biological accuracy. All performance metrics validated against real clinical NIPT datasets.

99.9% sensitivity, 99% specificity
06

Privacy Preserving

Generate unlimited biologically accurate synthetic data without accessing sensitive patient information. Perfect for validation, development, and global deployment.

Zero patient data exposure

Two Products, One Mission

Our platform combines synthetic data generation with AI foundation models to transform prenatal testing. Here's how the technology works together.

Available Now

Synthetic cfDNA Generation

Our 120M parameter conditional causal transformer generates unlimited, biologically accurate synthetic cfDNA sequences at scale—enabling training datasets 100-1000x larger than any real-world collection whilst maintaining perfect ground truth labels.

01

Feature Extraction

Extract comprehensive features from real cfDNA: fragment lengths, GC content, positional biases, end motifs, and methylation patterns across diverse populations.

ATCG GCTA TAGC
02

Transformer Training

Train the 120M parameter causal transformer on extracted features. The model learns sequence patterns conditioned on fragment length, GC content, and foetal fraction.

03

Autoregressive Generation

The transformer generates sequences token-by-token using learned nucleotide distributions conditioned on target properties, producing realistic cfDNA patterns with perfect ground truth labels.

04

Unlimited Synthetic Data

Generate unlimited synthetic cfDNA samples with specified conditions. Each sample maintains statistical properties matching real clinical data—enabling research and validation at unprecedented scale.

Q1 2026

cfDNA Foundation Model

A foundation model trained on unlimited synthetic cfDNA data from our causal transformer. By learning the true biological patterns of cell-free DNA fragmentation, our model achieves breakthrough sensitivity—validated detection at 4%+ foetal fraction, with a roadmap to 2% FF using high-depth sequencing (4M+ fragments).

Clinical Impact

Current NIPT
  • Testing from 10+ weeks
  • 4-8% test failure rate
  • Limited to common trisomies
  • Requires 4%+ foetal fraction
  • Higher false positive rates
  • Variable accuracy by ancestry
EabhaSeq
  • Testing from 10 weeks
  • 50-70% fewer failures
  • 50+ conditions detected
  • Works at 4%+ foetal fraction
  • >99.5% sensitivity
  • Equal accuracy across populations

Technical Capabilities

4%+ Foetal Fraction
Low-FF Detection

Validated at 4%+ FF. Roadmap: 2% FF with 4M+ fragments, enabling testing 2-3 weeks earlier in pregnancy.

50+ Conditions
Comprehensive Coverage

Trisomies 21/18/13, sex chromosome aneuploidies, microdeletions (22q11, 15q11), triploidy, and rare variants.

5 Populations
Ancestry-Aware

Trained on European, African, East Asian, South Asian, and Admixed American population profiles for equitable accuracy.

100M+ Training Samples
Unlimited Scale

Synthetic data generation enables training on datasets 100-1000x larger than any real-world collection.

Earlier Detection

Testing from 10 weeks (target: 7-8 weeks)

Fewer Failures

50-70% reduction in test failures

Lower Thresholds

Validated at 4%+ FF (target: 2% with high-depth)

From Discovery to Impact

Our path from synthetic data generation to transforming prenatal testing globally.

2025 Q4
Live

Synthetic Data Platform

Conditional diffusion model generating biologically accurate cfDNA data across 50+ conditions and 5 populations.

50+ Conditions
2026 Q1
In Development

Foundation Model

AI foundation model trained on synthetic data, enabling detection at 4%+ foetal fraction (target: 2% with high-depth).

4%+ Foetal Fraction
2027 H1
Planned

Clinical Validation

Retrospective validation study with clinical outcomes. ISO 13485 certification.

1,000+ Samples
2027 H2
Planned

Regulatory Submission

CE marking submission for UK/EU markets. FDA pre-submission meeting.

CE + FDA Pathways
2028
Planned

Commercial Launch

CE marking approval and first commercial deployments with laboratory partners in UK/EU.

UK/EU Markets
2029
Planned

US Market Entry

FDA clearance and US laboratory partnerships. Scale to millions of tests annually.

Global Scale
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Detect 50+ Conditions

Our platform supports detection of a comprehensive range of chromosomal abnormalities and monogenic disorders—with synthetic data generation enabling validation for even the rarest conditions.

Aneuploidies

7 conditions
  • T21Trisomy 21 (Down Syndrome)
  • T18Trisomy 18 (Edwards Syndrome)
  • T13Trisomy 13 (Patau Syndrome)
  • 45,XMonosomy X (Turner Syndrome)
  • 47,XXYKlinefelter Syndrome
  • 47,XXXTriple X Syndrome
  • 47,XYYXYY Syndrome

Microdeletions

13 conditions
  • 22q11.2DiGeorge Syndrome
  • 5p-Cri-du-Chat Syndrome
  • 15q11Prader-Willi Syndrome
  • 15q11Angelman Syndrome
  • 1p361p36 Deletion Syndrome
  • 4p-Wolf-Hirschhorn Syndrome
  • +7 more microdeletions

Monogenic Disorders

30+ conditions
  • CFTRCystic Fibrosis
  • SMN1Spinal Muscular Atrophy
  • FMR1Fragile X Syndrome
  • DMDDuchenne Muscular Dystrophy
  • HBBSickle Cell Disease
  • F8/F9Hemophilia A/B
  • +24 more disorders

All conditions include accurate chromosomal dosage effects, proper foetal fraction integration, and validated Z-score detection across diverse populations.

Rigorous Validation

Our platform undergoes a 4-level validation framework ensuring biological accuracy and clinical performance across all use cases.

Metric
Current NIPT
Our Platform
Foetal Fraction Threshold
4%+
4%+ (target: 2%)
Testing Window
10+ weeks
10 weeks (target: 7-8)
Test Failure Rate
3-8%
0.5-2%
Repeat Test Rate
5-10%
1-3%
0 .9% Sensitivity
Trisomy 21 Detection 99.9%
Sensitivity: 99.9% Specificity: 99.9%
Trisomy 18 Detection 99.7%
Sensitivity: 99.7% Specificity: 99.9%
Trisomy 13 Detection 99.5%
Sensitivity: 99.5% Specificity: 99.9%
Sex Chromosome Aneuploidies 98%+
Sensitivity: 98%+ Specificity: 99%+

4-Level Validation Framework

1 Statistical Distribution
2 Biological Accuracy
3 Clinical Performance
4 Population Equity

Built for Clinical Performance

Synthetic Data Generation

Model Type Causal Transformer
Parameters 120M (14 layers)
Architecture RoPE + SwiGLU + RMSNorm
Conditioning Length, GC, FF

Foundation Model

Detection Threshold 4%+ (target: 2%)
Sensitivity 99.9% (T21)
Specificity 99.9%
Failure Reduction 50-70%

Population Coverage

Ancestries 5 populations
Conditions 50+ supported
Reference GRCh38
Validation 4-level framework

Clinical Impact

Real-world benefits for patients and healthcare providers

2-3 weeks
Earlier results for families
350,000
Fewer failed tests annually
5 populations
Equitable coverage globally
Zero
Patient data exposure

Transform Your
Prenatal Testing

Whether you're a healthcare provider, researcher, or diagnostic laboratory, we can help you reduce test failures and enable earlier detection.

For Healthcare Providers

Offer your patients earlier, more reliable prenatal testing with fewer failures and repeat tests.

Learn More

For Laboratories

Integrate our foundation model to dramatically reduce test failures and improve turnaround times.

Contact Sales