NIPT With Microdeletions Test: Booking, Price, and Results
About NIPT With Microdeletions Test
| Field | Value |
|---|---|
| Also Known As | NIPT Plus, Non-Invasive Prenatal Screening with Microdeletion Panel, Extended NIPT, Expanded NIPS, Cell-free DNA Screening with Microdeletions |
| Sample Type | Peripheral blood (Streck tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Pregnant women from 10 weeks of gestation onwards; women aged 35 and above, those with high-risk screening results, previous affected pregnancies, or a family history of genetic disorders |
| Price | Starting at ₹22,000 |
What Is a NIPT With Microdeletions Test?
The NIPT with microdeletions test is a prenatal screening test that analyses fragments of foetal DNA circulating in the mother's blood. It screens for chromosomal abnormalities and small missing sections of chromosomes, known as microdeletions, in the developing baby. The test uses a simple maternal blood draw, making it safe for both mother and baby. It is also referred to as NIPT Plus, Extended NIPT, or Non-Invasive Prenatal Screening with Microdeletion Panel.
What Does a NIPT With Microdeletions Test Measure?
During pregnancy, tiny fragments of foetal DNA (called cell-free DNA, or cfDNA) circulate in the mother's bloodstream. The NIPT with microdeletions test uses next-generation sequencing (NGS) technology to analyse this cfDNA and screen for the following:
| What Is Screened | Examples |
|---|---|
| Common trisomies | Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) |
| Sex chromosome conditions | Turner syndrome, Klinefelter syndrome, Triple X syndrome, XYY syndrome |
| Microdeletion syndromes | DiGeorge syndrome (22q11.2), Prader-Willi syndrome, Angelman syndrome, Cri-du-chat syndrome, Williams syndrome, Wolf-Hirschhorn syndrome, 1p36 deletion syndrome |
| Foetal sex | Optional identification of the baby's sex (XX or XY) |
Why Is a NIPT With Microdeletions Test Done?
The NIPT with microdeletions test is ordered by doctors during pregnancy to assess the risk of certain chromosomal conditions in the baby. Here is a closer look at who needs it and what it can detect.
Common Situations That May Require This Test
This test is not symptom-driven in the usual sense. Instead, it is recommended based on specific risk factors or findings. The following situations commonly lead a doctor to advise this test:
- Advanced maternal age (35 years or older)
- Abnormal findings on a first-trimester or routine ultrasound scan
- High-risk result from earlier prenatal screening tests
- A previous pregnancy affected by a chromosomal abnormality
- A family history of genetic or chromosomal disorders
- A personal or partner history of a known chromosomal condition
- Choice for expanded prenatal genetic screening regardless of age or risk
Conditions This Test Can Help Detect
The NIPT with microdeletions screening can flag an increased risk of the following conditions:
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome and other sex chromosome abnormalities
- DiGeorge syndrome (22q11.2 microdeletion), associated with heart defects and developmental delays
- Prader-Willi syndrome and Angelman syndrome (15q11-13 region)
- Williams syndrome (7q11.23 deletion)
- Wolf-Hirschhorn syndrome (4p16.3 deletion)
- Cri-du-chat syndrome (5p deletion)
- 1p36 deletion syndrome
NIPT With Microdeletions Test During Pregnancy
The NIPT With microdeletions test is a prenatal screening option available from as early as 10 weeks of gestation. Before this point, there may not be enough foetal DNA in the mother's blood for reliable analysis. Medical guidelines from organisations such as ACOG (American College of Obstetricians and Gynaecologists) support offering this test to all pregnant women, not just those at higher risk. It remains important to continue all routine ultrasound scans alongside the test, as NIPT does not replace imaging-based assessments.
How to Prepare and What to Expect
No special preparation is needed for the NIPT with microdeletions test. Here is a brief overview of what to expect before and during sample collection.
Do You Need to Fast?
No. Fasting is not required for this test. You can eat and drink normally before your appointment.
Practical Tips Before Your Test
A few simple steps can help make your appointment smooth:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- The test can only be performed from 10 weeks of pregnancy onwards; confirm your gestational age with your doctor before booking
- Wear comfortable clothing with sleeves that can be easily rolled up
- Inform your doctor about any medications, supplements, or fertility treatments (such as IVF) you are undergoing
- Discuss any previous pregnancies or complications with your doctor before the test
- Continue attending all scheduled ultrasound scans alongside this screening
Step-by-Step Procedure
The NIPT with microdeletions test procedure involves a straightforward maternal blood draw. Here is what happens:
- A trained phlebotomist cleans the skin on your inner elbow and applies a tourniquet to make the vein visible.
- A fine needle is gently inserted into the vein, and the tourniquet is released.
- Approximately 5 ml of blood is collected into a specialised Streck tube, which preserves cell-free DNA in the sample.
- A sterile dressing is applied to the puncture site. The whole process takes just a few minutes.
- The sample is stored at ambient temperature (18 to 28 degrees Celsius) and transported to the laboratory.
- At the laboratory, the sample undergoes DNA extraction, sequencing using NGS technology, and analysis. Results are typically available within 15 days.
Factors That Can Affect Accuracy
Certain factors may influence the reliability of your results:
- Gestational age below 10 weeks (insufficient foetal DNA)
- Maternal obesity, which can dilute the foetal DNA fraction in the blood
- Twin or multiple pregnancies, which may affect microdeletion accuracy specifically
- Recent blood transfusion, bone marrow transplant, or cancer treatment
- Confined placental mosaicism (where the placenta's chromosomal make-up differs from the baby's)
- Low foetal fraction (below 4%), which may lead to an inconclusive result
Understanding Your NIPT With Microdeletions Test Results
Unlike standard blood tests, the NIPT with microdeletions screening does not return numerical values. Instead, results fall into one of three categories. Your doctor will explain what your result means in the context of your overall pregnancy care.
| Result Category | What It Means |
|---|---|
| Low Risk | The baby has less than a 1 in 10,000 chance of having the screened conditions. This is the most common result. |
| Increased Risk | There is a higher probability that the baby may have a chromosomal or microdeletion condition. Confirmatory diagnostic testing is typically recommended. |
| Inconclusive | There was insufficient foetal DNA in the sample to produce a result. A repeat test may be advised. |
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
Some situations can affect how results are interpreted:
- Maternal obesity is associated with a higher rate of inconclusive results. Increased blood volume in women with a higher BMI dilutes the foetal DNA fraction, making analysis more difficult.
- In twin or multiple pregnancies, microdeletion screening may be less accurate than trisomy screening.
- Confined placental mosaicism can occasionally cause results that do not accurately reflect the baby's chromosomal status.
How to Maintain Healthy Levels
While there are no "levels" to maintain for a screening test, these general pregnancy wellness habits support a healthy outcome:
- Attend all scheduled prenatal appointments and routine ultrasound scans
- Follow a balanced diet and maintain a healthy lifestyle throughout pregnancy
- Discuss all results, including inconclusive ones, with your doctor or a genetic counsellor for proper guidance
Lupin Diagnostics NIPT With Microdeletions Test Price and Home Collection
The NIPT with microdeletions test is available at Lupin Diagnostics, starting at ₹22,000, with home sample collection available at your convenience.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 22000 |
| CHENNAI | 22000 |
| HYDERABAD | 22000 |
| KOLKATA | 22000 |
| NAVI MUMBAI | 22000 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
NIPT with microdeletions test home collection is available across cities, making it easy for pregnant women to get tested without travelling to a centre. All samples are processed in NABL-accredited laboratories by experienced scientists. Your digital report is delivered securely via email or WhatsApp once ready.
Frequently Asked Questions
Basic NIPT screens for the three common trisomies (21, 18, and 13) and sex chromosome conditions. The NIPT with microdeletions test goes further and also screens for small missing sections of chromosomes (microdeletions) associated with conditions such as DiGeorge syndrome, Prader-Willi syndrome, and Angelman syndrome. This makes it a more expanded screening option.
The test can be performed from 10 weeks of pregnancy onwards. Before this point, there may not be enough foetal DNA in the mother's blood to produce a reliable result. Your doctor will confirm the right timing based on your gestational age.
Yes. The NIPT with microdeletions test requires only a maternal blood draw, with no risk to the baby. Unlike invasive procedures such as amniocentesis or chorionic villus sampling, there is no risk of miscarriage associated with this test.
A high-risk result does not confirm a diagnosis. It indicates a higher probability that the baby may be affected. Your doctor will typically recommend a follow-up confirmatory diagnostic test, such as amniocentesis or chorionic villus sampling, to verify the finding before any decisions are made.
No. It is a screening test, not a diagnostic one. This means it estimates risk but cannot give a definitive answer about whether the baby has a chromosomal condition. False positive and false negative results can occur, and any high-risk result requires confirmatory testing.
Yes. Higher body weight can lower the proportion of foetal DNA in the blood sample, which increases the chance of an inconclusive result. If you have concerns about this, discuss them with your doctor before the NIPT with microdeletions test procedure is carried out.
Microdeletion screening is generally less accurate than screening for common trisomies such as Down syndrome. The positive predictive value for microdeletion results is lower, meaning there is a greater chance of a false positive. It is important to discuss the benefits and limitations of this expanded panel with your doctor or a genetic counsellor.
NIPT With Microdeletions Test: Booking, Price, and Results
