NIPT Test in India: Cost, Accuracy & Details of Non-Invasive Prenatal Testing

Understanding NIPT: A Comprehensive Guide for Expectant Parents

What is the NIPT Test?

Welcome, expectant parents! If you’re exploring prenatal screening options, you’ve likely come across Non-Invasive Prenatal Testing (NIPT), also called Non-Invasive Prenatal Screening (NIPS). At MyDiagnostics, we understand you want the best for your baby, and this advanced screening test offers a safe and highly accurate way to assess the risk of certain chromosomal abnormalities early in your pregnancy. NIPT is also known as a NIPT blood test, highlighting its non-invasive nature and the ease of testing during pregnancy.

NIPT is a sophisticated blood test that analyzes tiny fragments of cell-free DNA (cfDNA) from the placenta present in the pregnant woman's blood. These fragments of fetal DNA circulate in the mother's bloodstream during pregnancy, making it possible to screen for chromosomal abnormalities non-invasively. The test’s accuracy depends on the fetal fraction, which is the proportion of fetal cell-free DNA in the mother's blood; a minimum fetal fraction of 4% is needed for reliable results, as outlined by the American College of Obstetricians and Gynecologists (ACOG).

Since placental DNA is generally identical to your baby’s fetal DNA, this test provides valuable insights into the developing fetus’s genetic health as a form of genetic testing during pregnancy. It’s truly “non-invasive” because it requires only a simple blood sample from the mother's blood, avoiding procedures like amniocentesis, which carry a small risk.

Purpose of the NIPT Test

The primary goal of the Non-Invasive Prenatal Test (NIPT) is to provide early screening for certain chromosomal abnormalities in a developing fetus. This non-invasive prenatal testing method analyzes cell-free fetal DNA (cfDNA) circulating in the mother’s blood, allowing for the detection of genetic disorders such as Down syndrome, Edwards syndrome, and Patau syndrome. As a screening test, NIPT offers a highly accurate risk assessment for these chromosomal abnormalities, giving expectant parents valuable information early in pregnancy—often as soon as 10 weeks. While NIPT is not a diagnostic test, it plays a crucial role in prenatal testing by identifying pregnancies at higher risk for specific genetic conditions. This empowers families to make informed choices about further diagnostic testing and pregnancy management, all through a safe, non-invasive approach that avoids the risks associated with traditional invasive prenatal testing.

How Does the NIPT Test Work? 

The process for non-invasive prenatal testing is remarkably simple and convenient. A small blood sample (approximately 10 ml) is collected from the pregnant woman, usually from the arm in a specialized tube. This sample contains both maternal DNA and fragments of the baby’s DNA from the placenta. Our NABL (National Accreditation Board for Testing and Calibration Laboratories) certified laboratory then uses advanced next-generation sequencing technology to analyze this cfDNA.

By measuring the levels and proportions of DNA from different chromosomes, we can assess the risk factor for various genetic conditions. This analysis provides valuable information about the fetus's genetic makeup by examining cell-free fetal DNA, enabling early and safer screening of chromosomal abnormalities. This test represents a significant advance in prenatal screening compared to traditional methods.

Procedure of the NIPT Test

The NIPT test procedure is designed to be simple, safe, and non-invasive for pregnant women. During a routine prenatal visit, a healthcare provider will collect a blood sample from the mother’s arm. This blood sample contains both maternal and cell-free fetal DNA, which is then sent to a specialized laboratory for analysis. Using advanced genetic testing techniques, the laboratory examines the cell-free fetal DNA to screen for specific chromosomal abnormalities, including Down syndrome, Edwards syndrome, and Patau syndrome, as well as sex chromosome abnormalities like Turner syndrome and Klinefelter syndrome.

Results from the NIPT test are typically available within 1-2 weeks and are presented as a risk assessment, indicating whether the fetus is at high or low risk for certain chromosomal abnormalities. If the test screens indicate a high risk for a particular condition, your healthcare provider may recommend further diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, to confirm the diagnosis. This stepwise approach ensures that only those with a higher risk are referred for more invasive procedures, minimizing unnecessary risks while providing comprehensive prenatal care.

What Does the NIPT Test Detect? 

MyDiagnostics offers NIPT in different variants to cater to your specific needs: NIPT Basic, NIPT Advanced, and NIPT Basic Twin. Each variant screens for different sets of conditions, providing comprehensive insights into your baby’s chromosomal health, as well as screening for genetic abnormalities and fetal chromosomal abnormalities, alongside other first trimester screening tests.

Chromosomal Aneuploidies: The Most Common Conditions Screened

These are the primary conditions that non-invasive prenatal testing screens for, occurring when there's an extra copy of a chromosome:

• Trisomy 21 (Down Syndrome): Characterized by an extra copy of chromosome 21, leading to intellectual disability and distinctive physical features. According to research published in the New England Journal of Medicine, NIPT detection rates for Down syndrome exceed 99%.
• Trisomy 18 (Edwards Syndrome): Caused by an extra copy of chromosome 18, often associated with severe intellectual disability and multiple birth defects, with a high mortality rate in infancy.
• Trisomy 13 (Patau Syndrome): Resulting from an extra copy of chromosome 13, this severe condition causes profound developmental issues and severe physical abnormalities.

Sex Chromosome Aneuploidies (NIPT Advanced)

Our NIPT Advanced panel extends screening to include sex chromosome disorders such as Turner syndrome and Klinefelter syndrome, as well as other sex chromosome abnormalities:

• Monosomy X (Turner Syndrome): Occurs when a female has only one X chromosome
• XXY Syndrome (Klinefelter Syndrome): Affects males who have an extra X chromosome
• Triple X syndrome (XXX): Affects females with an extra X chromosome
• XYY Syndrome (Jacob’s Syndrome): Affects males with an extra Y chromosome

Determining Fetal Gender

Yes, the Advanced variant can reveal your baby's gender through sex chromosome analysis. By analyzing the X and Y chromosomes, the test can indicate your baby's sex while screening for chromosomal conditions.

What NIPT Does NOT Detect (Important Limitations)

It’s crucial to understand that NIPT is a screening test, not a diagnostic test. This means it assesses your baby’s risk of having a chromosomal abnormality but cannot provide a definitive diagnosis.

• Not a Diagnostic Test: NIPT cannot definitively confirm whether your baby has a chromosomal condition. A positive result indicates high risk and should always be confirmed with a diagnostic test, such as chorionic villus sampling (CVS) or amniocentesis, as recommended by the Society for Maternal-Fetal Medicine.
• Limited Scope: NIPT doesn’t detect autism, all possible birth defects, or every genetic condition, especially those caused by single-gene mutations. NIPT cannot definitively diagnose genetic conditions that result from smaller DNA changes or single-gene disorders. If birth defects are suspected, specialized diagnostic testing beyond NIPT may be recommended by your healthcare provider.

Understanding NIPT Results

Understanding your NIPT test results is key to making informed decisions. After the test, you will receive test reports that provide detailed risk assessments for chromosomal abnormalities and are delivered within a specific timeframe. Results are typically reported as either “low risk” or “high risk” for specific chromosomal abnormalities.

Result Categories:

• Low Risk: A low-risk test result means the chance of your baby having the condition is very low, providing significant peace of mind
• High Risk: A high-risk test result indicates the risk is higher than average, but remember this is a screening result requiring confirmatory diagnostic testing
• Accuracy: NIPT accuracy for Down syndrome approaches 99%, with high sensitivity and negative predictive value

False Positive and False Negative Results

While NIPT is highly accurate, no screening test is 100% perfect:

• False Positive: High-risk result when the baby doesn't actually have the condition
• False Negative: Low-risk result when the baby actually has the condition (less common)

What to Do After a High-Risk Result

If you receive a positive or high-risk result, your healthcare provider will typically recommend further testing, which may include diagnostic tests such as CVS or amniocentesis, to confirm the diagnosis. These further tests are necessary to verify the initial findings from the screening. We also recommend discussing results with a doctor or seeking genetic counseling services for comprehensive support.

Genetic Testing and NIPT

Genetic testing has transformed prenatal care, and Non-Invasive Prenatal Testing (NIPT) stands at the forefront of this advancement. As a non-invasive prenatal test, NIPT analyzes cell-free fetal DNA (cfDNA) found in the mother’s blood to detect chromosomal abnormalities with remarkable accuracy. This screening test is capable of identifying certain genetic disorders, such as Down syndrome, Edwards syndrome, and Patau syndrome, as well as sex chromosome abnormalities, providing expectant parents with an early and reliable risk assessment.

NIPT testing is especially valuable because it is non-invasive, requiring only a simple blood draw, and poses no risk to the fetus. While NIPT is not a diagnostic test, it is highly effective at detecting pregnancies at high risk for chromosomal abnormalities. In cases where NIPT results indicate a higher risk, further diagnostic testing—such as chorionic villus sampling (CVS) or amniocentesis—can be performed to confirm the diagnosis. The cost of NIPT testing is generally considered cost-effective, especially when compared to the potential costs and risks of invasive prenatal testing. Overall, NIPT offers a highly accurate, non-invasive option for prenatal screening, empowering expectant parents with critical information about their baby’s genetic health and supporting informed decision-making throughout pregnancy.

NIPT in the Context of Comprehensive Prenatal Care

Non-invasive prenatal testing has revolutionized prenatal genetic screening, offering a safe, reliable method to assess chromosomal abnormalities. NIPT is one of several important prenatal tests available to expectant parents. As part of comprehensive pregnancy health monitoring, NIPT analyzes cell-free fetal DNA to detect conditions like Down syndrome, providing crucial risk assessment information early in pregnancy.

This screening method stands out because it’s non-invasive—requiring only a simple blood sample with no risk to the fetus. This contrasts with traditional invasive methods like amniocentesis or CVS procedures, which involve collecting samples directly from the uterus and carry small risks of complications.

Why Choose MyDiagnostics for Your NIPT Test in India?

At MyDiagnostics, we are committed to providing you with reliable, convenient, and affordable prenatal screening solutions in India. 

MyDiagnostics' Commitment to Quality and Convenience 

We pride ourselves on offering the best NIPT test cost without compromising on quality or convenience. Our services are optimized for:

• At-Home Sample Collection: Experience the ease of testing right from your residence, eliminating the need to travel to a clinic.
• NABL Certified Laboratories: Your blood sample is processed in a National Accreditation Board for Testing and Calibration Laboratories (NABL) certified lab, ensuring the highest standards of quality testing and analysis.
• Fast Turnaround Time: NIPT test results are typically delivered within 15 days, providing you with timely insights into your baby's health during pregnancy. 

Who Should Consider NIPT Testing?

Getting your NIPT test done with MyDiagnostics is a seamless experience designed for your comfort. This test makes prenatal screening easy. 

Who Should Consider the NIPT Test? 

While NIPT is recommended for all pregnant women, it’s particularly valuable for those at increased risk of chromosomal abnormalities. NIPT enables early diagnosis of chromosomal abnormalities, allowing for better preparation and management for both the mother and the baby. Consider NIPT if you have:

• Advanced maternal age (above 30 years)
• High risk found through previous dual marker testing or quadruple marker screening
• Abnormalities identified on ultrasound
• Family history of genetic conditions
• Previous child with chromosomal disorders
• History of pregnancy complications or recurrent loss

The American College of Obstetricians and Gynecologists (ACOG) recommends offering NIPT to all pregnant women, regardless of risk factors. The decision should be made in consultation with your healthcare provider, including obstetricians and gynecologists who are key professionals in recommending and interpreting these results.

Optimal Timing for NIPT Testing

Non-invasive prenatal testing can be performed as early as 10 weeks of pregnancy, with the optimal window being 10 to 14 weeks of pregnancy. This early screening timeline allows for earlier detection of chromosomal abnormalities, giving expectant parents more time for follow-up discussions or additional tests if needed.

NIPT vs. Invasive Prenatal Testing: Making the Right Choice

Understanding the differences between non-invasive prenatal testing (NIPT) and invasive testing, such as amniocentesis and chorionic villus sampling (CVS), helps expectant parents make informed decisions about their prenatal screening options.

NIPT Advantages:

• Simple blood test from pregnant woman
• Analyzes cell-free fetal DNA for chromosomal abnormalities
• No risk to fetus or mother
• Provides risk assessment for informed decision-making

Invasive Tests (Amniocentesis, CVS):

• Amniocentesis involves collecting amniotic fluid; CVS samples placental tissue
• Detect wider range of chromosomal abnormalities and genetic conditions
• Provide definitive diagnosis through actual fetal cell analysis
• Carry small risk of miscarriage due to invasive nature

When Each Test is Recommended

NIPT serves as an excellent first-line screening tool, while invasive tests are reserved for situations requiring definitive diagnosis, such as after positive NIPT results or when other risk factors are present. Your healthcare provider can help determine the most appropriate approach based on your individual risk factors and circumstances.

NIPT Test Cost in India 

MyDiagnostics strives to make high-quality non-invasive prenatal testing accessible and affordable across India.

Transparent Pricing Structure

The non-invasive prenatal testing solution effectively screens for chromosomal disorders by analyzing fetal DNA and cfDNA. Our NIPT test cost in India ranges from INR 12,500 to INR 17,500 based on the test variant, highlighting its affordability compared to international rates. Reports are generated within 15 days, providing complete insights into your screening results.

Compared to other screening tests, NIPT offers greater flexibility in timing during pregnancy, allowing for earlier and more convenient detection of chromosomal conditions.

The cost includes comprehensive at-home blood sample collection and screening for a range of conditions. Our transparent pricing covers all critical screening parameters required for expecting mothers, offering exceptional value in prenatal care.

Quality Assurance Standards

The quality of non-invasive prenatal testing is fundamental to effective prenatal care, providing expectant parents with confidence in their screening results. NIPT tests are designed to detect chromosomal abnormalities with exceptional accuracy by analyzing cell-free fetal DNA present in maternal blood.

Reputable laboratories maintain the highest standards in NIPT testing, utilizing state-of-the-art equipment and following stringent quality control protocols to ensure precise and trustworthy results. Our process is simple and non-invasive, requiring only a blood sample from the expectant mother.

Three-Level Quality Assurance

• Sample collection using sealed QR coded sterile kits with proper transportation and temperature control
• Sample acceptance and quality control at the laboratory
• Sample analysis at NABL/CAP/ISO certified labs - Medgenome