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Prenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y Test

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Prenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y Test

Short Name: Prenatal Karyotyping + FISH

Also known as: Prenatal Chromosomal Analysis, FISH for Aneuploidy, Karyotyping with FISH Test

Prenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y Test test available at DNA Labs India for ₹18,000. Uses Karyotyping, Fluorescence in situ hybridization (FISH) on Amniotic fluid / Bits of Chorionic tissue samples. Results in 15-20 days from sample collection. Free home collection in 300+ cities across India.

Diagnostic ScreeningFemalePregnant Women🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify chromosomal abnormalities in the fetus, such as Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome disorders, enabling early diagnosis and management during pregnancy.

Test Code
3168
Price
₹18,000
Sample Type
Amniotic fluid / Bits of Chorionic tissue
Result Time
15-20 days from sample collection
Fasting Required
No
Method
Karyotyping, Fluorescence in situ hybridization (FISH)
Step 1

Sample Collection

Consult with a healthcare provider for prescription and procedure details. No specific fasting is required, but follow any instructions from your doctor.

Method: Amniocentesis or Chorionic Villus Sampling (CVS)

Step 2

Laboratory Analysis

Sample collection is performed by a trained professional via amniocentesis or chorionic villus sampling (CVS) under ultrasound guidance.

Step 3

Report Delivery

Rest for a short period post-procedure. Monitor for any signs of complications like bleeding or infection and contact your doctor if concerned.

Timeline: 15-20 days from sample collection

Patient Instructions

1
Before the Test:Consult with your gynecologist, obtain a prescription, and discuss the procedure, risks, and benefits.
2
During the Test:The test involves sample collection via amniocentesis or CVS, which takes about 30 minutes under ultrasound guidance.
3
After the Test:Rest and avoid strenuous activities for 24-48 hours. Results are available in 15-20 days.

About This Test

Who Should Get This Test

The purpose of this test is to identify chromosomal abnormalities in the fetus, such as Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome disorders, enabling early diagnosis and management during pregnancy.

How to Prepare

  • Obtain a doctor's prescription for the test
  • Use sterile containers for sample collection
  • Transport samples at ambient temperature
  • Ensure proper labeling and documentation

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for early detection of chromosomal abnormalities in pregnancy, allowing for informed decision-making and appropriate medical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid / Bits of Chorionic tissue
Sample Volume2 sterile tubes (15 ml each) or sterile tissue culture container
ContainerSterile tubes or tissue culture container with normal saline or culture media
Collection MethodAmniocentesis or Chorionic Villus Sampling (CVS)

Sample Stability

Amniotic fluid: stable at ambient temperature for up to 24 hours
Chorionic tissue: stable in culture media or normal saline at ambient temperature
Sample Rejection Criteria:
  • Sample leakage or contamination
  • Incorrect sample type or volume
  • Missing patient information or prescription

Understanding Your Results

Results indicate the presence or absence of chromosomal abnormalities in the analyzed chromosomes. A normal result shows no aneuploidy, while an abnormal result may indicate conditions like trisomy or monosomy.
📊

Normal

No chromosomal abnormalities detected for chromosomes 13, 18, 21, X, and Y.

📊

Abnormal

Chromosomal abnormality detected, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), or sex chromosome aneuploidy. Further genetic counseling is recommended.

⚠️ When to Consult a Doctor:

Consult a doctor immediately if you experience symptoms like severe abdominal pain, bleeding, or fever after sample collection. For abnormal results, seek genetic counseling and discuss management options with your healthcare provider.

Limitations

  • ⚠May not detect all chromosomal abnormalities, such as microdeletions or balanced translocations
  • ⚠Results are dependent on sample quality
  • ⚠False positives or negatives can occur, though rare
  • ⚠Does not screen for single-gene disorders

Risks & Considerations

  • ●Risk of miscarriage (about 0.1-0.3% for amniocentesis and CVS)
  • ●Infection
  • ●Bleeding
  • ●Cramping or discomfort

Interfering Factors

  • ●Contaminated sample
  • ●Maternal cell contamination
  • ●Insufficient fetal cells
  • ●Technical errors in cell culture or FISH processing

Compare With Similar Tests

TestPrenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y
ComparisonPrenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y

Frequently Asked Questions

What is Prenatal Diagnostic Screening by Karyotyping + FISH?
It is a test that analyzes fetal chromosomes using karyotyping and FISH to detect abnormalities like Down syndrome, Edwards syndrome, and Patau syndrome.
How is the test performed?
A sample of amniotic fluid or chorionic villus tissue is collected and analyzed in the lab using karyotyping and FISH techniques.
What are the risks of the test?
Risks include a small chance of miscarriage, infection, bleeding, or discomfort, but these are rare when performed by experienced professionals.
How long does it take to get results?
Results are typically available within 15-20 days after sample collection.
What is the cost of the test?
The test costs INR 18000 at DNA Labs India, inclusive of sample collection and reporting.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What conditions can this test detect?
It can detect trisomy 13, 18, 21, and sex chromosome abnormalities like Turner syndrome and Klinefelter syndrome.
Who should consider this test?
Pregnant women with risk factors such as advanced maternal age, family history of genetic disorders, or abnormal ultrasound findings.
How accurate is the test?
The test is highly accurate for detecting the specified chromosomal abnormalities, with sensitivity and specificity over 99% for common aneuploidies.
What is the difference between karyotyping and FISH?
Karyotyping analyzes all chromosomes for number and structure, while FISH uses fluorescent probes to detect specific chromosomal abnormalities rapidly.
Can this test be done in the first trimester?
Yes, it can be performed via chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester.
What should I do if the results are abnormal?
Consult a genetic counselor and your healthcare provider to discuss the implications, management options, and further testing if needed.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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