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AN81.1-3 | Prenatal Diagnosis — Glossary
Glossary — Prenatal Diagnosis
Key terms introduced in this module, in order of first appearance. Use this as a revision checklist.
| Term | Where Introduced |
|---|---|
| Advanced maternal age trend | relevance |
| NIPT (Non-Invasive Prenatal Testing) | relevance |
| NTD screening | relevance |
| Beta-thalassaemia carrier screening | relevance |
| NMC 2024 CBME | relevance |
| Chromosome number: | recall |
| Trisomy 21 (Down syndrome): | recall |
| Amniotic fluid: | recall |
| Chorionic villi: | recall |
| Classification of Prenatal Diagnostic Methods | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| A. NON-INVASIVE METHODS | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| 1. Ultrasonography (USG) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| 1st trimester scan (11–13+6 weeks): | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Nuchal translucency (NT) measurement: | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Anomaly scan (18–20 weeks): | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Fetal echocardiography (22–24 weeks): | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| 2. Maternal Serum Biochemical Screening | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Marker patterns: | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| 3. Non-Invasive Prenatal Testing (NIPT / cfDNA testing) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Cell-free fetal DNA (cffDNA) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Sensitivity/specificity: | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Important: | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| SCREENING test, NOT diagnostic | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| B. SEMI-INVASIVE METHODS | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| 4. Preimplantation Genetic Testing (PGT) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| C. INVASIVE METHODS (Diagnostic) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Amniocentesis | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Chorionic Villus Sampling (CVS) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Cordocentesis (PUBS) | Part 1: Overview of Prenatal Diagnosis Methods (AN81.1) |
| Definition: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Optimal timing: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Indications: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Chromosomal analysis (most common): | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Biochemical analysis: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| DNA analysis: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Fetal lung maturity | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Therapeutic amniocentesis | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Procedure: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| 15–20 mL of amniotic fluid | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| 10–14 days | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Results from amniotic fluid: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Disadvantages / Risks: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Procedure-related pregnancy loss: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Late result: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Needle injury to fetus: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Chorioamnionitis: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Amniotic fluid leakage: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Fetal club foot: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| False-positive / false-negative: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Psychological stress: | Part 2: Amniocentesis — Indications, Procedure, Risks (AN81.2) |
| Principle: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Routes of access (two techniques): | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Transcervical | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Transabdominal | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| 10–25 mg of chorionic villi | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Direct preparation: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Cultured cells: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Advantages over amniocentesis: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Timing | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Result time | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Termination if abnormal | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Sample | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Limb reduction defects: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Confined placental mosaicism (CPM): | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Rh sensitisation: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Cannot measure AFP | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Infection: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| No fetal lung maturity assessment | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Comparison Summary: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| PCPNDT Act implications: | Part 3: Chorionic Villus Sampling (CVS) — Indications, Procedure, Risks (AN81.3) |
| Prohibits: | clinical_pearl |
| Requires: | clinical_pearl |
| Penalties: | clinical_pearl |
| Triple Screen Pattern for Down Syndrome (T21): | clinical_pearl |
| Alpha-Fetoprotein (AFP) — Dual Role: | clinical_pearl |
| Key Takeaways — Prenatal Diagnosis (AN81.1–81.3) | summary |
| Methods Overview (AN81.1): | summary |
| Amniocentesis (AN81.2): | summary |
| CVS (AN81.3): | summary |
| India-specific: | summary |
80 terms in this module