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.
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