Non-invasive prenatal screening for genetic conditions
Comprehensive and non-invasive prenatal screening of coding variation
This study is looking to make prenatal blood tests even better at spotting a wider variety of genetic conditions in babies by analyzing tiny bits of DNA from the mother's blood, and it's for expectant parents who want more detailed information about their baby's health.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10910871 on NIH RePORTER |
What this research studies
This research focuses on improving non-invasive prenatal screening (NIPS) by analyzing cell-free fetal DNA from maternal blood to detect a wider range of genetic conditions. The study aims to enhance the resolution of current screening methods, which typically only identify a limited number of chromosomal abnormalities. By using advanced statistical models and integrating phenotype data, the researchers hope to better interpret and prioritize genetic variations found in the samples. The project will involve testing 100 samples alongside fetal exome sequencing to refine these techniques.
Who could benefit from this research
Good fit: Ideal candidates for this research are pregnant individuals seeking non-invasive prenatal testing for a broader range of genetic conditions.
Not a fit: Patients who are not pregnant or those who do not wish to undergo genetic screening may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and comprehensive prenatal screenings, allowing for earlier detection of genetic conditions.
How similar studies have performed: Previous research has shown promise in enhancing non-invasive prenatal screening techniques, indicating potential for success in this novel approach.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Duyzend, Michael H — Massachusetts General Hospital
- Study coordinator: Duyzend, Michael H
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.