Hydrocephalus Explained: How Genetics Saved a Family After Repeated Loss

Hydrocephalus is a serious brain condition that can silently affect babies and families—sometimes across generations. For some parents, the journey involves repeated infant loss, unanswered questions, and years of uncertainty. In this video, Dr. Shruti Bajaj, Clinical Geneticist at The Purple Gene Clinic, shares a real-life story that shows how genetic diagnosis transformed despair into hope. This video explains: What hydrocephalus really is and how cerebrospinal fluid (CSF) buildup damages the brain, why some cases of hydrocephalus are genetic and inherited, how L1CAM gene mutations can cause severe hydrocephalus, especially in male babies, why families with recurrent infant loss should consider genetic evaluation, how Next Generation Sequencing (NGS) helps identify hidden genetic causes, the role of prenatal genetic testing (CVS) in protecting future pregnancies. In this family’s journey, identifying the genetic cause allowed early testing in pregnancy—leading to the birth of a healthy child after repeated heartbreak. Genetics is not just about diagnosis. It is about answers, reassurance, and giving families a future without fear. If you or someone you know has faced recurrent pregnancy loss, hydrocephalus, or rare birth defects, this video may help you understand where to look for answers. 📍 The Purple Gene Clinic, Mumbai Specialised care in genetic diagnosis, counselling, and prenatal genetics. #Hydrocephalus #GeneticHydrocephalus #L1CAM #PrenatalGenetics #RecurrentPregnancyLoss #GeneticCounselling #NextGenerationSequencing #CVSTest #ThePurpleGeneClinic #DrShrutiBajaj #GeneticsOfHope #BirthDefects #Neurogenetics #ClinicalGenetics #ReproductiveGenetics