FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test
Short Name: FISH POC Aneuploidy
Also known as: FISH POC Test, Aneuploidy FISH on Products of Conception, FISH Chromosome Analysis Miscarriage Tissue, Fluorescence In Situ Hybridization POC, Recurrent Miscarriage Chromosome Test
FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test test available at DNA Labs India for ₹8,500. Uses Fluorescence In Situ Hybridization (FISH) on Placental villi or fetal tissue (Fascia lata, diaphragm, tendon, skin, tissue from internal organs if fresh, chest wall cartilage particularly if macerated) samples. Results in Report available within 4 working days from the date of sample receipt at the laboratory. Sample must be submitted daily by 4:00 PM for same-day processing initiation.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of FISH testing on products of conception is to determine whether a chromosomal abnormality caused the pregnancy loss. This test screens for trisomies and monosomies involving chromosomes 13 (Patau syndrome), 18 (Edward syndrome), 21 (Down syndrome), X (Turner syndrome), and Y-related abnormalities (Klinefelter syndrome and other sex chromosome aneuploidies). Identifying the specific chromosomal cause of a miscarriage helps clinicians counsel patients about recurrence risk, guide management in future pregnancies, and determine whether further genetic testing such as karyotyping, chromosomal microarray, or parental chromosome analysis is warranted. The test also helps differentiate between sporadic chromosomal errors and inherited structural rearrangements, informing reproductive planning and prenatal diagnostic strategies for subsequent pregnancies.
- Test Code
- 576
- CPT Code
- 88271
- ICD Code
- O02.1
- Price
- ₹8,500
- Sample Type
- Placental villi or fetal tissue (Fascia lata, diaphragm, tendon, skin, tissue from internal organs if fresh, chest wall cartilage particularly if macerated)
- Result Time
- Report available within 4 working days from the date of sample receipt at the laboratory. Sample must be submitted daily by 4:00 PM for same-day processing initiation.
- Fasting Required
- No
- Method
- Fluorescence In Situ Hybridization (FISH)
Sample Collection
Ensure a duly filled Chromosome & FISH analysis Requisition Form (Form 17) accompanies the specimen. Collect tissue as soon as possible after the miscarriage or surgical procedure. Avoid placing tissue in formalin. Handle the specimen aseptically to prevent contamination.
Method: Tissue collection from products of conception by attending gynecologist or pathologist
Laboratory Analysis
Collect placental villi or fetal tissue under sterile conditions. Place the specimen in a sterile container with normal saline (not formalin). Seal the container securely and label with patient details and date of collection.
Report Delivery
Ship the specimen immediately at room temperature (18-22°C). Do NOT freeze or refrigerate. Ensure the specimen reaches the laboratory within 48 hours of collection. Include the completed Form 17 with the shipment.
Timeline: Report available within 4 working days from the date of sample receipt at the laboratory. Sample must be submitted daily by 4:00 PM for same-day processing initiation.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of FISH testing on products of conception is to determine whether a chromosomal abnormality caused the pregnancy loss. This test screens for trisomies and monosomies involving chromosomes 13 (Patau syndrome), 18 (Edward syndrome), 21 (Down syndrome), X (Turner syndrome), and Y-related abnormalities (Klinefelter syndrome and other sex chromosome aneuploidies). Identifying the specific chromosomal cause of a miscarriage helps clinicians counsel patients about recurrence risk, guide management in future pregnancies, and determine whether further genetic testing such as karyotyping, chromosomal microarray, or parental chromosome analysis is warranted. The test also helps differentiate between sporadic chromosomal errors and inherited structural rearrangements, informing reproductive planning and prenatal diagnostic strategies for subsequent pregnancies.
How to Prepare
- Submit placental villi or fetal tissue (fascia lata, diaphragm, tendon, skin, tissue from internal organs if fresh, chest wall cartilage if macerated) in normal saline
- Ship immediately at room temperature (18-22°C)
- Do NOT use formalin as a fixative – formalin-fixed specimens will be rejected
- A duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory
- Label the specimen container clearly with patient name, date, and specimen type
- Ensure specimen reaches the laboratory within 48 hours of collection
- Free home sample collection is available for online bookings across India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"FISH analysis on products of conception is one of the most valuable tools I use in evaluating couples experiencing recurrent pregnancy loss. Identifying the specific chromosomal abnormality responsible for a miscarriage helps guide counselling regarding future pregnancy outcomes. In my clinical experience, approximately 50-60% of first-trimester miscarriages are due to chromosomal aneuploidies, and FISH provides a rapid and reliable method to detect the most common ones involving chromosomes 13, 18, 21, X, and Y. This information is crucial for determining whether the aneuploidy is sporadic or inherited, and for planning appropriate prenatal testing in subsequent pregnancies. I strongly recommend this test for all women who have experienced two or more pregnancy losses, particularly when the losses occurred in the first trimester."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Formalin-fixed specimens
- Specimens received without Chromosome & FISH analysis Requisition Form (Form 17)
- Specimens in putrefied or severely degraded condition
- Specimens stored at incorrect temperature (refrigerated or frozen)
- Specimens received more than 48 hours after collection without prior arrangement
- Specimen container with no proper patient identification or labelling
- Insufficient tissue quantity for processing
Understanding Your Results
No aneuploidy detected for chromosomes 13, 18, 21, X, or Y. The pregnancy loss may be due to other chromosomal abnormalities not covered by this panel, genetic mutations, or non-genetic causes. Consider chromosomal microarray or full karyotype for further evaluation.
Three copies of chromosome 13 identified (Patau syndrome). This is a severe aneuploidy typically associated with multiple congenital anomalies and is rarely compatible with extended postnatal survival. Generally a sporadic event with low recurrence risk (~1%).
Three copies of chromosome 18 identified (Edward syndrome). Associated with severe developmental abnormalities. Usually sporadic; recurrence risk is approximately 1%.
Three copies of chromosome 21 identified (Down syndrome). While many individuals with Down syndrome survive into adulthood, this may have been the cause of the pregnancy loss depending on gestational age and other factors. Recurrence risk depends on whether it was due to non-disjunction, translocation, or mosaicism. Genetic counselling is recommended.
Single X chromosome with no Y chromosome (Turner syndrome). Monosomy X is the most common chromosomal cause of spontaneous abortion. It is usually a sporadic event with very low recurrence risk. Genetic counselling is recommended.
Abnormal number of sex chromosomes detected. Klinefelter syndrome (XXY) and other sex chromosome aneuploidies are generally compatible with life but may contribute to early pregnancy loss in some cases. Genetic counselling is recommended for recurrence risk assessment.
The FISH analysis could not provide a definitive result due to poor probe hybridisation, insufficient cellularity, or tissue degradation. Repeat testing with a new sample or alternative methods such as chromosomal microarray may be considered.
Consult your gynecologist or a genetic specialist if you have experienced two or more consecutive miscarriages, if a previous pregnancy was diagnosed with a chromosomal abnormality, if you are over 35 years of age with a history of pregnancy loss, or if you receive an abnormal FISH result and require counselling on recurrence risk and future pregnancy planning. Genetic counselling is strongly recommended to interpret the results in the context of your complete clinical and family history.
Limitations
- ⚠FISH screens only for aneuploidies involving chromosomes 13, 18, 21, X, and Y; it does not detect abnormalities in other chromosomes
- ⚠Structural chromosomal rearrangements (translocations, inversions, deletions) are NOT detected by this targeted FISH panel
- ⚠Polyploidy (triploidy, tetraploidy) may not be reliably detected using standard aneuploidy FISH probes
- ⚠FISH does not replace a full karyotype or chromosomal microarray analysis (CMA) for comprehensive chromosome evaluation
- ⚠Results are not definitive for all causes of pregnancy loss; genetic counselling is recommended for result interpretation
- ⚠Maternal cell contamination may obscure fetal chromosomal results
- ⚠Mosaicism (mixed cell populations) may not be detected if the abnormal cell line is present in a low proportion
Risks & Considerations
- ●This test involves analysis of tissue that has already been expelled or surgically removed; no additional physical risk to the patient from sample collection
- ●Emotional distress may result from receiving genetic results related to pregnancy loss; genetic counselling is recommended
- ●There is a small possibility (<5%) of an inconclusive result requiring repeat testing or alternative methods
- ●Maternal tissue contamination may occasionally yield misleading results if the sample is not properly collected
Interfering Factors
- ●Formalin-fixed specimens are NOT acceptable and will lead to test rejection
- ●Excessive maternal tissue contamination in the POC sample may yield false results due to maternal cell mosaicism
- ●Macerated or severely degraded tissue may yield insufficient signals for interpretation
- ●Molar pregnancies (complete or partial) may produce atypical FISH patterns requiring additional testing
- ●Low cellularity or necrotic tissue samples may reduce probe hybridisation efficiency
- ●Use of wrong transport medium or delayed sample transit beyond 48 hours at room temperature
Compare With Similar Tests
| Test | FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test | FISH – Aneuploidy Detection POC | Karyotyping (G-banding) | Chromosomal Microarray Analysis (CMA) | QF-PCR (Quantitative Fluorescent PCR) |
|---|---|---|---|---|---|
| Comparison | FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test |
Frequently Asked Questions
What is FISH testing on products of conception (POC)?
Why is FISH testing recommended after a miscarriage?
What is the difference between FISH and karyotyping for POC analysis?
How accurate is the FISH test for detecting aneuploidy in POC?
What sample is required for the FISH POC test?
How much does the FISH POC test cost at DNA Labs India?
Is fasting required before the FISH POC test?
How long does it take to get the FISH POC test results?
What does a normal FISH result mean?
What does an abnormal FISH result mean for future pregnancies?
Can FISH detect all causes of pregnancy loss?
Is the FISH POC test available for home sample collection?
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