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Prenatal diagnosis

https://drive.google.com/file/d/1Pq2X... Summary of Prenatal Diagnosis Techniques Goals of Prenatal Diagnosis The clinical imperative is to detect congenital anomalies and genetic disorders, enable early fetal therapy and delivery planning, provide data for informed decision-making, and improve neonatal health outcomes through preparedness. Distinction Between Screening and Diagnostic Tests Screening Tests: Identify pregnancies at risk but do not confirm a diagnosis. They are non-invasive, high volume, and low risk, e.g., NIPT, nuchal translucency scan, and maternal serum. Diagnostic Tests: Confirm abnormalities with high accuracy. They are invasive, have specific indications, and carry a procedural risk, e.g., CVS, amniocentesis, and PUBS. Non-Invasive Screening Tools Maternal Serum Screening: Biochemical analysis of maternal blood. The Quadruple Test Second Trimester includes Alpha-Fetoprotein, Unconjugated Estriol, hCG, and Inhibin A. Down Syndrome: High hCG and Inhibin A, Low AFP, Low uE3, and Low PAPP-A. Edwards Syndrome: Everything is low, e.g., AFP, uE3, hCG, and Inhibin. Neural Tube Defects: High AFP due to leakage. Ultrasound Imaging: Used for structural and growth assessment. Nuchal translucency measures fluid at the fetal neck; increased thickness correlates with chromosomal disorders. Cell-Free Fetal DNA/NIPT: Isolates fetal genetic material from maternal plasma. It screens for Trisomy 21, 18, and 13. Invasive Diagnostic Procedures These are used when screening indicates high risk or specific genetic history. CVS (Chorionic Villus Sampling) | 10-14 Weeks | Placental Tissue | ~1% Loss | | Amniocentesis | 15-20 Weeks | Amniotic Fluid (Cells + AFP) | ~0.5% Loss | | PUBS (Cordocentesis) | 18+ Weeks | Fetal Blood | ~2% Loss (Highest) | Note: Rh-negative mothers require mandatory administration of Rho(D) Immune Globulin (RhoGAM) after invasive procedures to prevent sensitization.