Finding Hidden Genetic Causes of Birth Defects
Part of Genetic & congenital clinical trials.
This study helps identify genetic causes of birth defects that weren't found by standard tests. Researchers use advanced genetic mapping to look for structural changes in DNA that might explain your baby's condition.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are carrying a single baby (not twins or multiples)
- Ultrasound shows your baby has a structural abnormality (physical development difference)
- Standard genetic tests (like genetic sequencing, chromosome tests, and copy-number tests) came back negative or inconclusive
- Either no genetic variants were found, or only one suspected pathogenic variant was found in a recessive disorder without a matching second variant
- You are willing to have additional prenatal genetic testing performed
- You are willing to continue genetic testing and investigation
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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