Causes of fetal brain abnormalities found before birth
Genomics and functional dissection of fetal brain abnormalities using a prenatal cohort
['FUNDING_R01'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11135524
This project uses genetic testing plus lab experiments in zebrafish to find genetic causes of brain differences seen on prenatal ultrasound for families with an affected pregnancy.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF NORTH CAROLINA CHAPEL HILL (nih funded) |
| Locations | 1 site (CHAPEL HILL, UNITED STATES) |
| Trial ID | NIH-11135524 on ClinicalTrials.gov |
What this research studies
If your ultrasound shows a fetal brain abnormality, researchers will pair detailed imaging records with DNA sequencing (exome/genome) from the pregnancy to look for rare genetic changes. Candidate genetic variants will be tested in zebrafish to see whether altering those genes produces similar brain problems, helping confirm which variants are likely to cause the condition. The team combines clinical data, population genetics, and in vivo functional tests to improve how often a molecular diagnosis can be given. Results are meant to help with diagnosis, prognosis, and recurrence-risk counseling for families.
Who could benefit from this research
Good fit: Ideal participants are families with a pregnancy in which prenatal imaging shows a fetal brain abnormality who can provide clinical information and DNA samples.
Not a fit: People without a prenatal brain abnormality or whose condition is clearly caused by a non-genetic factor are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this work could increase the chance of finding a genetic diagnosis for fetal brain abnormalities and improve counseling about outcomes and recurrence risk.
How similar studies have performed: Prenatal exome sequencing has produced molecular diagnoses in some cases (higher for multiple anomalies than isolated brain findings), and using zebrafish for functional validation is an established method to test gene effects.
Where this research is happening
CHAPEL HILL, UNITED STATES
- UNIV OF NORTH CAROLINA CHAPEL HILL — CHAPEL HILL, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: VORA, NEETA L — UNIV OF NORTH CAROLINA CHAPEL HILL
- Study coordinator: VORA, NEETA L
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.