NIPT reflex FISH for Trisomies

What Does a NIPT with FISH for Trisomies Test Measure?

This combined test evaluates:

• Cell-Free Fetal DNA (cfDNA): Extracted from maternal blood to identify chromosomal abnormalities non-invasively.
• FISH Confirmation: Confirms suspected abnormalities using fluorescent probes that bind to specific chromosomes (13, 18, 21, X, Y).
• Maternal Cell Contamination (MCC) Check: Ensures fetal sample purity during confirmatory testing.
• Diagnostic Accuracy: Offers over 99% sensitivity and specificity for major trisomies.

NIPT with FISH for Trisomies Test: Who Needs It and Why It’s Done

When to Consider NIPT with FISH for Trisomies

This test is recommended for pregnant women who:

• Are aged 35 years or older.
• Have abnormal results from first-trimester screening or ultrasound.
• Have a family history of chromosomal abnormalities.
• Have had a previous pregnancy affected by a genetic disorder.
• Wish to undergo non-invasive early genetic screening.

Why Is NIPT with FISH for Trisomies Done?

It helps detect and confirm the presence of fetal chromosomal disorders safely and accurately. NIPT provides early risk assessment without invasive procedures, while FISH confirms the findings through a direct diagnostic approach.

Importance of NIPT with FISH for Trisomies Test

This combined test offers a balance of safety, accuracy, and speed by:

• Reducing the need for invasive testing unless necessary.
• Providing early detection of common trisomies.
• Offering rapid confirmation through FISH if NIPT shows a high-risk result.
• Supporting informed decision-making for parents and clinicians.

NIPT with FISH for Trisomies Test Booking & Reports – Metropolis Healthcare

How to Book the NIPT with FISH for Trisomies Test and Get Your Reports

1. Simple Online Booking:
   Visit the Metropolis Healthcare website or app, select “NIPT with FISH for Trisomies Test,” and schedule your appointment conveniently.
2. Professional Sample Collection:
   Maternal blood samples are collected in specialized cell-free DNA (Streck) tubes. In some cases, fetal samples (amniotic fluid or chorionic villi) may be required for FISH confirmation.
3. Laboratory Testing:
   NIPT analysis is conducted using Next Generation Sequencing (NGS). FISH confirmation is performed on fetal samples using fluorescent probes.
4. Quick & Accurate Reporting:
   Results are available within 8 days and can be accessed via email, WhatsApp, or the Metropolis website or app.

Is Home Sample Collection Available for the NIPT with FISH for Trisomies Test Near You?

Due to the complexity of prenatal sample collection, this test requires in-clinic or hospital-based collection by trained medical professionals. Metropolis ensures that all samples are handled under strict biosafety conditions for reliable results.

How Long Does It Take to Get a NIPT with FISH for Trisomies Test Report?

Reports are typically available within 8 days.
Note: Reporting time and cost may vary based on your location.

Where Can I See or Get My NIPT with FISH for Trisomies Test Results?

Results can be viewed through:

• Metropolis Healthcare website or mobile app
• Email and WhatsApp delivery
• Physical report collection from your nearest Metropolis laboratory

Interpreting NIPT with FISH for Trisomies Test Results

What Your NIPT with FISH for Trisomies Test Results May Indicate

Understanding Abnormal NIPT with FISH for Trisomies Test Results by Parameter

How Should You Prepare for a NIPT with FISH for Trisomies Test?

Before your appointment:

• Documentation: Bring your ultrasound (USG), dual and quadruple marker reports, and filled TRF form.
• Consent: Provide a signed consent form with your clinician’s stamp.
• Sample Requirements:

10 ml of maternal blood in a Streck tube (for NIPT).

15–20 ml amniotic fluid or 20 mg chorionic villi (for FISH, if needed).

• Fasting: Fasting not required.
• Hydration: Drink water to make blood collection easier.

Conditions That May Affect NIPT with FISH for Trisomies Test Accuracy

• Low fetal fraction in maternal blood.
• Contamination of sample with maternal cells.
• Multiple pregnancies (twins or triplets).
• Sample mishandling or delay in transport.
• Early gestational age (<10 weeks).

Diseases That a NIPT with FISH for Trisomies Test Can Help Detect

This test helps identify or confirm:

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• Sex Chromosome Abnormalities (X and Y)

References

1. Norton M.E., et al. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med, 372(17), 1589–1597. PMID: 25830321
2. Wapner R.J., et al. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med, 367(23), 2175–2184. PMID: 23215555
3. Bianchi D.W., et al. (2014). DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med, 370(9), 799–808. PMID: 24571752
4. Lo Y.M.D., et al. (2010). Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Science Translational Medicine, 2(61), 61ra91. PMID: 21160083
5. Pergament E., et al. (2014). Clinical experience with single-nucleotide polymorphism-based noninvasive prenatal screening for 22q11.2 deletion syndrome. Am J Obstet Gynecol, 211(5), 527.e1–527.e17. PMID: 25068560