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  • Project: AI Prenatal Screening
  • Company: Sepehr Noavar Avizhe Hoshmand (SNAH)
  • Client: Healthcare R&D Partners
  • Date: 08 October, 2025
  • Duration: 6 months (Phase I)
Genovision interface showing AI-assisted prenatal chromosomal anomaly screening with explainable overlays

Project overview

Genovision is an AI-assisted prenatal screening project focused on early risk stratification for common fetal chromosomal anomalies such as trisomy 21, 18, and 13. The system ingests multimodal inputs—ultrasound frames/biometrics and structured laboratory data—and outputs an interpretable risk score to support clinical decision-making.

The pipeline emphasizes privacy and clinical safety: de-identification at source, reproducible preprocessing, careful dataset governance, and model cards documenting intended use and limitations. Explainability (e.g., saliency/Grad-CAM) highlights image regions that most influenced the prediction, helping clinicians audit model behavior.

Genovision is designed as a modular platform with an inference API, optional on-premise deployment for hospitals, and a secure audit trail. While not a diagnostic device, it aims to reduce cognitive load, standardize screening quality, and surface high-risk cases for timely follow-up.

Client challenges & requirements

Clinical AI must balance sensitivity with specificity, remain robust across devices and populations, and provide transparent reasoning that augments, not replaces, expert judgment.

  • Data heterogeneity across ultrasound devices and acquisition protocols; class imbalance for rare anomalies.
  • Bias mitigation and domain generalization to avoid overfitting to a single site or demographic.
  • Regulatory and privacy constraints (consent, de-identification, auditability) with reliable MLOps in clinical settings.

Project solution

We built a reproducible, privacy-preserving training and inference stack: curated de-identified datasets, augmentation tailored to sonography artifacts, self-supervised pretraining on large unlabeled frame sets, and an ensemble of calibrated classifiers. Explainability overlays (e.g., Grad-CAM) and confidence calibration accompany every prediction. An MLOps layer (versioned data, drift monitoring, and human-in-the-loop review) supports continuous improvement. Deployments are available via secure API or on-premise edge servers.

0.94 AUC

Pilot internal validation*

3+

Supported anomaly categories

2 modes

Cloud & on-prem

100%

De-identified training data

Your complete FAQ guide to Genovision

Answers to common questions about AI-assisted prenatal screening and how Genovision supports clinical workflows.

No. Genovision is a decision-support tool and should not be used as a standalone diagnostic. Clinical decisions remain with qualified healthcare professionals.

Initial focus is on common chromosomal anomalies (e.g., trisomy 21/18/13). The roadmap includes broader anomaly coverage subject to data quality and clinical validation.

The model provides saliency-based overlays (e.g., Grad-CAM) that highlight regions most influential to the prediction, together with a calibrated confidence score to assist review.

We use stratified sampling, domain-specific augmentation, cross-site validation, and ongoing monitoring for drift. Model cards document datasets, limitations, and intended use.

Yes. Hospitals can deploy an on-premise inference node with secure APIs, or use our cloud endpoint with end-to-end encryption and strict access controls.