Invasive Prenatal Testing

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What is Invasive Prenatal Testing?

An invasive prenatal test is a diagnostic procedure performed during pregnancy to obtain fetal cells directly from the womb, providing definitive confirmation of genetic and chromosomal conditions rather than just risk estimation. Procedures such as Amniocentesis performed at 15–20 weeks and Chorionic villus sampling (CVS) performed at 13 weeks gestation.

How are diagnoses confirmed?

  • Cytogenetic analysis such as Karyotype, FISH, CMA detects numerical chromosomal abnormalities (e.g., trisomy 21, 18, 13) and large structural rearrangements (e.g., translocations, large deletions or duplications).
  • Molecular genetic analysis such as PCR, MLPA, NGS (WES), Sanger identifies single-gene disorders (e.g., cystic fibrosis, spinal muscular atrophy, fragile X syndrome).

Who should take this test?

 
  • 1. Abnormal screening results (e.g., high-risk NIPT, elevated maternal serum markers, or abnormal ultrasound findings suggestive of chromosomal or structural anomalies).
  • 2. Advanced maternal age (typically ≥35 years at delivery, due to increased risk of aneuploidies such as Down syndrome).
  • 3. Previous pregnancy or child with a chromosomal or genetic disorder (e.g., trisomy 21, 18, 13, or a known single-gene condition)
  • 4. Parental carrier status for a genetic disorder (e.g., cystic fibrosis, spinal muscular atrophy, fragile X syndrome).
  • 5. Family history of a genetic condition that can be diagnosed by cytogenetic or molecular analysis of amniotic fluid cells.

Karyotype

  • Methodology: G-banding technique.
  • Resolution: >400 band resolution.
  • Sample Type: Blood in heparin tube / AF / CVS.
  • TAT: 15 days.

FISH

  • Probes: VYSIS CEP.
  • Sample Type: Blood in heparin tube / AF / CVS / FFPE block.
  • TAT: 1 week.

CMA

  • Methodology: Microarray.
  • Sample Type: Blood in EDTA / AF / CVS / POC.
  • Resolution: 315K / 750K.
  • TAT: 3 weeks.

PCR & MLPA

  • Methodology: Fragment analysis (repeat expansion) / MLPA.
  • Sample Type: Blood in EDTA.
  • TAT: 2–3 weeks.

WES

  • Methodology: Next generation sequencing.
  • Sample Type: Blood in EDTA.
  • Coverage: 80–100x depth.
  • TAT: 4 weeks.

SANGER

  • Methodology: Targeted sequencing.
  • Sample Type: Blood in EDTA.
  • TAT: 2 weeks.

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

Invasive tests provide definitive diagnosis using fetal cells, while non-invasive tests like NIPT only estimate risk.

Modern procedures like amniocentesis and CVS carry a low miscarriage risk of approximately 0.1–0.5%.

Different tests (karyotype, CMA, PCR, WES) detect different types of genetic abnormalities at varying resolutions.

CPM is when a chromosomal abnormality is present in the placenta but not in the fetus, requiring confirmatory testing.

Because it directly analyzes fetal cells using cytogenetic and molecular methods to confirm or rule out genetic conditions.

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