Non-invasive prenatal screening for genetic conditions
Official title: Comprehensive and non-invasive prenatal screening of coding variation
Funded at Massachusetts General Hospital · NIH-10910871 · Data updated 2026-11-12
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 start | July 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $87,892 |
| NIH project number | 5F32HD112084-02 |
| Project ID | NIH-10910871 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are pregnant individuals seeking non-invasive prenatal testing for a broader range of genetic conditions.
✕Less likely to help
Patients who are not pregnant or those who do not wish to undergo genetic screening may not benefit from this research.
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.
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 gone: 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
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Duyzend, Michael H — Massachusetts General Hospital
- Study coordinator: Duyzend, Michael H
Related research
Other NIH-funded projects on the same topics.
-
Global TravEpiNet: Pregnant Travelers Health and Disease Prevention Network
This grant supports a national network to improve health and prevent infections among international travelers, with a special focus on pregnant travelers.
-
Soluble ST2 and the course of lung injury in ARDS
A doctor-scientist at a top hospital is studying how a molecule called soluble ST2 may influence how lung injury starts and heals in patients with ARDS and related conditions.
-
Role of airway macrophages in lung health and allergic disease
A doctor-scientist at a major hospital wants to study how immune cells in the airways develop and influence asthma and other airway diseases.
-
Global TravEpiNet: Understanding and Protecting US Travelers, including Pregnant Travelers
A large U.S. network studies international travelers, including pregnant travelers, to understand illness risks and reduce the spread of infections.
-
Gait speed from wearable sensors to guide ALS trials
A patient-friendly look at using wearable sensors to measure how fast people with ALS walk, to help run better ALS trials.
-
Determinants of Post-Stroke Cognitive Outcomes and Vascular Effects on Recovery
A large, multi-site effort aims to understand why some stroke survivors develop long-term cognitive problems and dementia, and how vascular health and pre-existing brain changes influence recovery.
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.