Once a specific mutation (reference mutation) has been identified in a previous child or a parent, prenatal diagnosis can detect or exclude the disorder in future pregnancies.
Prenatal testing is typically performed at 12 weeks via chorionic villus sampling (CVS), though in certain cases, amniocentesis may be more appropriate.
Our team offers comprehensive pre-test and post-test counseling to help families understand the procedure, its benefits, and its limitations. We work closely with geneticists to ensure accurate diagnosis and compassionate care throughout the process.
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