DNA patterns in rare prenatal diseases
Part of Brain & nervous system, Ear, nose & throat, Eyes & vision, Genetic & congenital clinical trials.
This study looks at DNA patterns in fetuses or children with rare genetic conditions. It aims to better understand how these patterns relate to diseases that start before birth, which could help with diagnosis and future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed genetic change in one of these genes: CHD7, KMT2D, HYLS1, TCTN3, or FLVCR2.
- DNA samples must be available—either from lung tissue and amniotic fluid (if the pregnancy ended) or from a blood sample (if the child is living).
- Parents must have agreed to genetic testing for both diagnosis and research.
- For living children, parents must allow the use of stored medical data and samples.
- For pregnancies that ended, parents must have consented to the use of samples and not objected to data being reused.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This trial uses genetic testing to better understand the cause of a newborn’s birth defect and to help doctors choose more personalized treatment. It may help families get clearer answers and more targeted care.
This study uses advanced genetic testing on the fluid around the baby to look for rare diseases when an ultrasound shows possible problems. It aims to give more complete information to help you and your doctor make decisions during pregnancy.
This study tests a safer blood test to check for certain genetic disorders during pregnancy, instead of an invasive procedure like amniocentesis. It's for pregnant women who are at risk of passing on a known genetic condition.
This study uses advanced DNA analysis to understand confusing genetic test results in people with brain or nerve diseases. It aims to improve diagnosis by reclassifying uncertain genetic findings.
This study compares the methylation patterns (chemical tags on DNA that control gene activity) in people with certain growth disorders (like Beckwith-Wiedemann syndrome, Silver-Russell syndrome, or Temple syndrome) to those with other genetic conditions. It aims to improve diagnosis for these rare conditions.
This study looks for rare genetic changes that might explain birth defects when standard tests have not found a cause. It could help families understand why a baby has a structural problem and may guide future care.
Hear when a new Rare Fetal Genetic Diseases trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.