Better genetic tests to find large DNA changes in pregnancy
Clinical Diagnostic Sequencing of Structural Variation
['FUNDING_R01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11160572
This project develops improved sequencing and computer methods to find big DNA changes that can cause fetal structural problems, helping pregnant people and their babies get clearer answers.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11160572 on ClinicalTrials.gov |
What this research studies
If you're pregnant and concerned about fetal anomalies, this work uses high-resolution whole-genome and exome sequencing on samples like amniocentesis to look for structural DNA changes. The team is building and standardizing computer algorithms and reference resources to find and interpret those changes more reliably. They focus on pregnancies with multiple congenital anomalies as examples and aim to extend methods to non-invasive prenatal screening over time. The goal is to make results easier for clinicians and families to understand and act on.
Who could benefit from this research
Good fit: Pregnant people undergoing amniocentesis or with suspected fetal structural anomalies or other high-risk prenatal findings would be the main candidates.
Not a fit: People who are not pregnant, who do not need prenatal genetic testing, or whose health issues are unrelated to large structural DNA changes are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this could provide more accurate and faster prenatal diagnoses of structural birth defects and clearer genetic information for families.
How similar studies have performed: Previous studies show whole-genome and exome sequencing can increase diagnostic yield, but reliably detecting and interpreting structural variants is still relatively new and challenging.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TALKOWSKI, MICHAEL E — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: TALKOWSKI, MICHAEL E
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.
Conditions: Autistic Disorder