NIPT With Microdeletions Test
About NIPT With Microdeletions Test
| Field | Value |
|---|---|
| Also Known As | NIPT Plus Test, Extended NIPT Test, Cell-Free DNA Screening with Microdeletions Test, Non-Invasive Prenatal Screening (NIPS) with Microdeletions Test |
| Sample Type | Peripheral blood |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Pregnant women, particularly those aged 35 years or above, with a family history of chromosomal abnormalities, or abnormal results from earlier screening |
| Price | Starting at ₹22,000 |
What Is an NIPT With Microdeletions Test?
The NIPT With Microdeletions test is a prenatal screening test that analyses tiny fragments of the baby's DNA found in the pregnant woman's blood. It screens for chromosomal abnormalities, including common trisomies and small missing sections of chromosomes known as microdeletions.
Also called the Cell-Free DNA Screening with Microdeletions test and the NIPT Plus test, it requires a simple peripheral blood sample from the mother and carries no risk to the baby.
What Does an NIPT With Microdeletions Test Measure?
This test uses Next Generation Sequencing (NGS) to examine cell-free fetal DNA circulating in the mother's bloodstream. It screens for several chromosomal conditions across the following categories.
| Category | What Is Screened |
|---|---|
| Common trisomies | Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) |
| Microdeletion syndromes | DiGeorge syndrome (22q11.2 deletion), 1p36 deletion, Cri-du-Chat syndrome (5p deletion), Wolf-Hirschhorn syndrome (4p deletion), Prader-Willi syndrome, Angelman syndrome |
| Sex chromosome abnormalities | Turner syndrome, Klinefelter syndrome, Triple X syndrome, XYY syndrome |
| Fetal fraction | Minimum threshold of 4% required for a reliable result |
Why Is an NIPT With Microdeletions Test Done?
Doctors recommend this test when there is an increased chance of chromosomal abnormalities in the fetus. Below are the key reasons it may be advised.
Common Symptoms That May Require This Test
The following clinical situations are common reasons a doctor may recommend the NIPT With Microdeletions test procedure:
- Advanced maternal age (35 years or older at the time of delivery)
- Abnormal results from first trimester combined screening or blood tests
- Unusual findings detected on an ultrasound scan
- A previous pregnancy affected by a chromosomal condition
- Family history of chromosomal or genetic abnormalities
- Parental concern about fetal genetic health
Conditions This Test Can Help Detect
This test screens for a range of chromosomal conditions. These include:
- Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13)
- DiGeorge syndrome (22q11.2 deletion), which can affect the heart, immune system, and palate
- 1p36 deletion syndrome and Wolf-Hirschhorn syndrome
- Cri-du-Chat syndrome (5p deletion)
- Prader-Willi syndrome and Angelman syndrome
- Sex chromosome conditions such as Turner syndrome and Klinefelter syndrome
NIPT With Microdeletions Test During Pregnancy
The NIPT With Microdeletions test is a routine prenatal screening option available from 10 weeks of gestation onwards. It offers a safe, non-invasive way to assess fetal chromosomal health early in pregnancy, reducing the need for more invasive procedures. Guidelines from leading obstetric bodies support offering this screening to all pregnant women, regardless of age or baseline risk.
How to Prepare and What to Expect
Preparation for this test is straightforward, but a few points are worth keeping in mind before you arrive.
Do You Need to Fast?
No fasting is required before the NIPT With Microdeletions test. You can eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
The following tips will help ensure a smooth and accurate sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Confirm your gestational age through an ultrasound scan before booking; the test is best performed at or after 10 weeks of pregnancy
- Inform your doctor about any medications, supplements, or existing health conditions
- Wear clothing with easy access to the arm for a blood draw
- Stay well hydrated before your appointment
Step-by-Step Procedure
Here is what to expect during the NIPT With Microdeletions test procedure:
- An ultrasound may be done beforehand to confirm gestational age and that the pregnancy is progressing normally.
- A trained phlebotomist (blood collection specialist) will clean the area on your arm and prepare it for the draw.
- A needle is gently inserted into a vein, typically at the inner elbow, and approximately 5 ml of peripheral blood is collected into a Streck tube.
- A sterile dressing is applied to the puncture site. The entire collection takes only a few minutes.
- The sample is labelled and stored at ambient temperature (18 to 28 degrees Celsius) before dispatch to the laboratory.
- At the laboratory, the sample undergoes NGS analysis to detect fetal cell-free DNA and screen for chromosomal abnormalities. Results are delivered within 15 days.
Factors That Can Affect Accuracy
- Low gestational age (testing too early, before sufficient fetal DNA is present in the blood)
- High maternal BMI, which can dilute fetal DNA and reduce the fetal fraction below the required threshold
- Twin or multiple pregnancies, which can affect DNA analysis
- Placental mosaicism, a condition where placental cells have a different chromosomal make-up from the baby
- Poor sample quality or improper sample storage
- Use of donor eggs or surrogacy, which may affect interpretation
Understanding Your NIPT With Microdeletions Test Results
Results are reported as either low risk or high risk for each condition screened. A doctor or genetic counsellor should always guide you through the findings.
| Parameter | Result | Interpretation |
|---|---|---|
| Trisomy 21 (Down syndrome) | Low risk / High risk | Probability of an extra chromosome 21 |
| Trisomy 18 (Edwards syndrome) | Low risk / High risk | Probability of an extra chromosome 18 |
| Trisomy 13 (Patau syndrome) | Low risk / High risk | Probability of an extra chromosome 13 |
| 22q11.2 deletion (DiGeorge) | Low risk / High risk | Risk for this microdeletion |
| 1p36 deletion | Low risk / High risk | Risk for this microdeletion |
| 4p16.3 deletion (Wolf-Hirschhorn) | Low risk / High risk | Risk for this microdeletion |
| Cri-du-Chat (5p15.3) | Low risk / High risk | Risk for this microdeletion |
| Prader-Willi / Angelman (15q11-q13) | Low risk / High risk | Risk for this microdeletion |
| Fetal fraction | 4% or above required | Below this level, results may be inconclusive |
Disclaimer: This information is a general guide. Your doctor will review your genetic results alongside your age, health history, and other clinical findings. Always consult a qualified healthcare professional for personalised medical advice.
Please note: NIPT is a screening test, not a diagnostic test. A high-risk result does not confirm a diagnosis. Confirmatory testing through amniocentesis or chorionic villus sampling (CVS) is recommended before any clinical decisions are made.
Results During Special Conditions
- High maternal BMI increases the overall volume of DNA in the blood, which dilutes the fetal fraction. This can lead to a low fetal fraction result or an inconclusive finding, and a repeat test at a later gestational age may be needed.
- Confined placental mosaicism occurs when the placenta carries chromosomal changes not present in the baby. This can occasionally lead to a result that does not accurately reflect the baby's chromosomal status.
- In twin or multiple pregnancies, analysing fetal DNA is more complex and may affect the reliability of certain parameters.
Essential Guidance for a Healthy Pregnancy
- Attend all scheduled prenatal check-ups and follow-up ultrasound scans as advised by your doctor
- Follow a balanced diet that includes adequate folic acid, iron, and other essential nutrients recommended during pregnancy
- Discuss all screening results, including those from the NIPT With Microdeletions test, with your doctor or a certified genetic counsellor
Lupin Diagnostics NIPT With Microdeletions Test Price and Home Collection
The NIPT With Microdeletions test cost at Lupin Diagnostics starts at ₹22,000, and home sample collection is available across cities. A trained phlebotomist visits your home to collect the blood sample, making the process convenient during pregnancy.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 22000 |
| CHENNAI | 22000 |
| HYDERABAD | 22000 |
| NAVI MUMBAI | 22000 |
| PUNE | 22000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your NIPT With Microdeletions test online is simple:
- 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
Lupin Diagnostics offers NIPT With Microdeletions test home collection across multiple cities, making it easier for pregnant women to get tested without travelling. All samples are processed in NABL-accredited laboratories by experienced professionals. Digital reports are shared promptly once ready.
Frequently Asked Questions
Standard NIPT screens primarily for the three common trisomies (Down, Edwards, and Patau syndromes) and sometimes sex chromosome conditions. The NIPT With Microdeletions test goes further by also screening for small missing sections of chromosomes, including DiGeorge syndrome, 1p36 deletion, Cri-du-Chat syndrome, Wolf-Hirschhorn syndrome, Prader-Willi syndrome, and Angelman syndrome. This makes it a broader screening option for families with specific concerns.
The test can be performed from 10 weeks of gestation onwards. Testing earlier than this is not recommended, as the amount of fetal DNA in the mother's blood may be too low to give a reliable result. Your doctor will advise the best time based on your ultrasound findings.
Yes. The test only requires a blood sample from the mother's arm and poses no risk to the baby or the pregnancy. Unlike amniocentesis or CVS, there is no needle entry into the uterus and no risk of miscarriage associated with this test.
A high-risk result means there is an increased probability of the screened condition, but it does not confirm a diagnosis. Your doctor will typically recommend a confirmatory diagnostic test such as amniocentesis or CVS. Genetic counselling is also usually offered to help you understand your options.
The most common reason is a low fetal fraction, where the percentage of fetal DNA in the sample is below 4%. This can happen if the test is done too early in pregnancy or if the mother has a high BMI. In these cases, a repeat blood draw at a later stage of pregnancy is usually recommended.
NIPT is highly accurate for common trisomies. For microdeletions, performance is more variable, and positive predictive value is generally lower than for trisomies. Because microdeletion screening can produce false positives, any high-risk result should be confirmed with diagnostic testing such as CVS or amniocentesis.
While the analysis of fetal DNA can technically identify the chromosomal sex of the fetus, Indian law under the PC-PNDT Act prohibits the disclosure of fetal sex before birth. This information will not be shared in your report.
NIPT With Microdeletions Test
