Karyotyping, Amniotic Fluid Test: Booking, Price, and Results
About Karyotyping, Amniotic Fluid Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Chromosome analysis (amniotic fluid), foetal karyotyping, prenatal karyotype, amniocentesis karyotyping, cytogenetic analysis |
| Sample Type | Amniotic fluid (collected via amniocentesis by a specialist) |
| Fasting Required | No |
| Report Time | 12 days |
| Recommended For | Pregnant women with high-risk pregnancies, typically between 15 and 20 weeks of gestation |
| Price | Starting at ₹11,000 |
What Is a Karyotyping, Amniotic Fluid Test?
The karyotyping, amniotic fluid test examines the chromosomes (the structures in cells that carry genetic information) of a developing foetus. It is performed on amniotic fluid collected through a procedure called amniocentesis. The test is also known as foetal karyotyping, prenatal karyotype, or amniocentesis karyotyping. Doctors typically recommend it for pregnant women identified as high-risk through routine screening.
What Does a Karyotyping, Amniotic Fluid Test Measure?
The karyotyping test analyses foetal cells present in the amniotic fluid to study the chromosomes in detail. Using a method called G-banding, each chromosome is stained to reveal a unique pattern that helps identify it individually.
The following aspects are assessed:
| What Is Analysed | What It Tells Us |
|---|---|
| Total chromosome number | Confirms whether all 46 chromosomes are present |
| Sex chromosomes | Identifies the chromosome pair as XX (female) or XY (male) |
| Numerical abnormalities (aneuploidies) | Detects extra or missing chromosomes, such as trisomy or monosomy |
| Structural abnormalities | Identifies translocations, deletions, duplications, or inversions in chromosomes |
| G-banding patterns | Helps pinpoint individual chromosomes and characterise any changes |
Why Is a Karyotyping, Amniotic Fluid Test Done?
This test is ordered when prenatal screening suggests an increased chance of a chromosomal condition in the foetus. It helps confirm or rule out specific genetic findings before birth.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms but on specific clinical indications. The following situations commonly lead to a referral:
- Advanced maternal age (typically 35 years or older)
- Abnormal nuchal translucency (NT) measurement on ultrasound
- Positive or high-risk results from first or second trimester screening tests
- High-risk results from non-invasive prenatal testing (NIPT)
- Abnormal findings on a foetal ultrasound scan
- A previous pregnancy or child with a chromosomal abnormality
- Known family history of a genetic condition
Conditions This Test Can Help Detect
The karyotyping, amniotic fluid test can help identify the following foetal chromosomal conditions:
- Down syndrome (trisomy 21): an extra copy of chromosome 21
- Edwards syndrome (trisomy 18): an extra copy of chromosome 18
- Patau syndrome (trisomy 13): an extra copy of chromosome 13
- Turner syndrome: a missing X chromosome in females
- Klinefelter syndrome: an extra X chromosome in males
- Complex structural abnormalities such as balanced translocations and pericentric inversions
Karyotyping, Amniotic Fluid Test During Pregnancy
The karyotyping, amniotic fluid test is one of the oldest and most established methods of prenatal chromosomal diagnosis. It has been used since the 1960s and remains the gold standard for invasive prenatal testing. The test is routinely offered to pregnant women who are identified as high-risk through screening, and it is typically carried out between 15 and 20 weeks of pregnancy to assess the foetus for chromosomal differences.
How to Prepare and What to Expect
Preparation for this test is straightforward, but following your doctor's guidance carefully is important.
Do You Need to Fast?
No, fasting is not required before this test. You can eat and drink normally on the day of the procedure.
Practical Tips Before Your Test
Keep the following in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry the PNDT (Pre-Natal Diagnostic Techniques) Consent Form, which is legally required before this procedure can be performed
- Tell your doctor about all medications you are currently taking, any allergies, and any existing medical conditions
- Let your doctor know if your blood group is Rh negative, as you may need an anti-D injection after the procedure
- Follow any additional instructions your doctor provides, such as whether you need a full or empty bladder
- Consider bringing a companion for support during and after the appointment
Step-by-Step Procedure
The following steps describe what typically happens during an amniocentesis for karyotyping:
- Your doctor performs a detailed ultrasound scan to check foetal position, placental location, and the amount of amniotic fluid available.
- The skin on your abdomen is cleaned, and a very thin needle is carefully guided through the abdomen and into the uterus using live ultrasound imaging.
- Approximately 20 ml of amniotic fluid is withdrawn across two collection tubes (10 ml in each). The first small amount is typically discarded to avoid contamination.
- The sample is labelled and stored at 2 to 8 degrees Celsius, then sent to the laboratory on the same day.
- In the laboratory, foetal cells in the fluid are cultured for several days. This step is necessary before chromosome analysis can begin.
- Once enough cells are available, chromosomes are stained using the G-banding technique and examined under a microscope. A full report is prepared and delivered within 12 days.
Factors That Can Affect Accuracy
Certain factors may affect the quality or interpretation of results:
- Insufficient foetal cells in the fluid sample, leading to culture failure
- Bacterial or yeast contamination of the sample during or after collection
- Ongoing chemotherapy, which can disrupt chromosome structure
- Rare laboratory artefacts that may be misread as mosaicism (where cells have different chromosome sets)
- Sample handling and transport conditions
- Gestational age and operator experience at the time of collection
Understanding Your Karyotyping, Amniotic Fluid Test Results
Your results should always be reviewed with your doctor or a genetic counsellor, who will consider them alongside your overall clinical picture and pregnancy history.
| Parameter | Normal Result | Notes |
|---|---|---|
| Total chromosomes | 46 chromosomes | Any number above or below 46 is considered abnormal |
| Female karyotype | 46,XX | Standard chromosome pattern in female foetuses |
| Male karyotype | 46,XY | Standard chromosome pattern in male foetuses |
A normal result means 46 chromosomes were present without any structural changes. An abnormal result may indicate conditions such as trisomy 21, trisomy 18, monosomy X, or structural rearrangements like translocations or deletions.
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Patients currently receiving chemotherapy may receive inaccurate results, as chemotherapy drugs can interfere with chromosome structure. On rare occasions, changes observed in cultured cells may not reflect the actual foetal chromosomes (culture artefacts). A normal karyotype does not rule out all birth defects, particularly those caused by very small chromosomal changes, single-gene mutations, or other factors.
How to Maintain Healthy Levels
While chromosome results cannot be altered by lifestyle, the following general steps support a healthy pregnancy:
- Attend all scheduled prenatal appointments and complete all recommended screening tests
- Discuss any personal or family history of genetic conditions with your doctor before and after testing
- Seek genetic counselling to help you understand your results and explore available options
Lupin Diagnostics Karyotyping, Amniotic Fluid Test Price
The karyotyping, amniotic fluid test is priced starting at ₹11,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or an affiliated clinical facility. Home collection is not available because the amniotic fluid sample must be collected via amniocentesis performed by a trained specialist under ultrasound guidance.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 11000 |
| CHENNAI | 11000 |
| HYDERABAD | 11000 |
| KOLKATA | 11000 |
| NAVI MUMBAI | 11000 |
| PUNE | 11000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your karyotyping test:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time. Your doctor will perform the amniocentesis procedure at the appropriate clinical setting.
- Receive your report via email or WhatsApp within 12 days.
Frequently Asked Questions
Conventional karyotyping uses G-banding to examine chromosomes under a microscope and is the standard method for prenatal diagnosis. Molecular karyotyping (chromosomal microarray) can detect much smaller abnormalities that conventional methods may miss and generally provides faster results. Your doctor will recommend the most suitable approach based on your clinical situation.
The karyotyping, amniotic fluid test is usually carried out between 15 and 20 weeks of pregnancy. It is not recommended before 15 weeks, as this increases the risk of complications. In some cases, it may be performed later in pregnancy if clinically necessary.
When performed by a skilled operator, the additional risk of miscarriage from amniocentesis is generally below 0.5%. For twin pregnancies, the additional risk is around 1%. Your doctor will discuss these risks with you before you consent to the procedure.
The overall success rate for cell culture is reported at greater than 99%. The test is highly accurate for detecting chromosomal abnormalities. Very subtle structural changes may occasionally be missed, and your doctor or genetic counsellor will explain the scope and limitations of the test in detail.
The sample for this karyotyping test must be collected via amniocentesis, an invasive procedure performed by a trained obstetrician under ultrasound guidance. This must be done in a proper clinical setting and cannot be carried out at home.
If the karyotyping results show a chromosomal difference, your doctor will discuss the findings with you in detail. You will be offered support and referred to a genetic counsellor who can help you understand what the results mean and what options are available to you.
Yes, a signed PNDT (Pre-Natal Diagnostic Techniques) Consent Form is a legal requirement under Indian law before amniocentesis and foetal chromosome analysis can be performed. You must bring this form to your appointment, along with a detailed clinical history.
Karyotyping, Amniotic Fluid Test: Booking, Price, and Results
