Jhansi Diagnostics and Fetal Medicine Centre

NIPT Low Risk, फिर भी Down Syndrome? | A Rare False-Negative Case Low-risk NIPT… but baby had Down syndrome. How is that possible? 🧬 Anomaly scan mein fetus mein hypoplastic nasal bone, echogenic intracardiac focus (EIF) aur unilateral choroid plexus cyst (CPC) noted the. Further evaluation mein NIPT low-risk for Trisomy 21 aaya, with an adequate fetal fraction of 12%. Lekin delivery ke baad karyotyping ne confirm kiya: 47,XX,+21 → Trisomy 21 (Down syndrome) Toh NIPT false-negative kaise ho sakta hai? NIPT maternal blood mein mainly placental cell-free DNA ko analyse karta hai—baby ke cells ko directly nahi. Rarely, fetoplacental discordance ki wajah se placenta ka genetic signal fetus ke actual chromosome makeup ko accurately reflect nahi kar pata. The key message: NIPT = Screening ≠ Diagnosis A low-risk NIPT is highly reassuring, but it does not completely rule out chromosomal abnormalities and it does not replace a detailed anomaly scan. Ultrasound + genetic screening + clinical context — all matter. 📌 Follow for more real-world fetal medicine cases and evidence-based prenatal diagnosis. Patient details have been anonymised. Shared strictly for medical education. Aug 29, 2026