1. Core Comparison Table Test / Scope / Feature / Use: NIPT — 3 common trisomies only (21/18/13) — standard sequencing depth — basic need. NIPT-Plus — adds high-frequency microdeletion syndromes (e.g., DiGeorge) — same as NIPT; note twin accuracy drops — those wanting to rule out microdeletions. NIPT-Pro — advanced maternal/paternal age (father >40, higher de novo mutation risk), rare-disease concern — singleton only; not for those with genetic-family history — note: Pro is a non-invasive single-gene screening option, but high-risk results still need amniocentesis to confirm.
2. Notes on Interpretation • Low risk ≠ completely healthy: all NIPT tests are screening with a tiny false-negative possibility (e.g., Pro reported ~99% sensitivity for single-gene, screening only); combine with ultrasound (NT, anatomy scan). • High risk must be confirmed: even Pro high-risk needs amniocentesis + microarray/sequencing; amnio remains the 'gold standard' for chromosome/gene diagnosis. • Limitations: cannot detect recessive disorders (need pre-pregnancy carrier screening); mixed fetal DNA in multiples may interfere.
3. Summary — Three Steps to Choose 1) Clarify need: basic → NIPT; chromosome-segment worry → Plus; advanced age / single-gene worry → Pro. 2) Assess own risk: age, history, family genetics. 3) Combine for max protection: ideal = Pro (12 wks) + anatomy ultrasound (20–24 wks) + amnio if needed; three-tier prevention: pre-pregnancy gene screen → mid-pregnancy NIPT+ultrasound → postnatal metabolic screen. Note: any test should be chosen under a genetic counselor's guidance. (More info: QR code or 181-0136-5219.)
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