NIPT WITH MICRODELETIONS

The NIPT with Microdeletions Test is an advanced prenatal screening that not only detects common chromosomal abnormalities but also identifies small missing pieces of chromosomes (microdeletions) in the developing fetus. It is an extended version of Non-Invasive Prenatal Testing (NIPT) and provides a more comprehensive genetic assessment during pregnancy.

This test is gaining importance due to its ability to detect rare genetic conditions early, helping doctors and parents make informed decisions.

What is the NIPT with Microdeletions Test?

The NIPT with Microdeletions Test is a non-invasive blood test that analyses fetal DNA circulating in the mother’s bloodstream to screen for:

Common chromosomal abnormalities like Down Syndrome (Trisomy 21), Trisomy 18, and Trisomy 13

Microdeletion syndromes, which are caused by small missing segments of chromosomes

Some commonly screened microdeletion conditions include:

• 22q11.2 deletion syndrome (DiGeorge syndrome)
• 1p36 deletion syndrome
• Cri-du-chat syndrome
• Angelman syndrome
• Prader-Willi syndrome

Why is the NIPT with Microdeletions Test Recommended?

• High-risk pregnancy (maternal age above 35)
• Family history of genetic disorders
• Abnormal ultrasound findings
• Need for expanded genetic screening
• Previous pregnancy with chromosomal abnormalities

NIPT with Microdeletions Test Price in Delhi

The NIPT with Microdeletions Test price in Delhi can vary depending on the location of the diagnostic centre. The average price in Delhi is INR 20000 to INR 35000.

Preparation for the NIPT with Microdeletions Test

• No fasting is required
• You can eat and drink normally
• Inform your doctor about your Medical history, IVF pregnancy (if applicable) or any Previous complications

What is the procedure for the NIPT with Microdeletions test?

• A blood sample is drawn from the mother’s arm
• The sample is sent to a specialised genetic laboratory
• Cell-free fetal DNA is extracted from the blood
• Advanced sequencing techniques analyse chromosomal patterns
• The risk for abnormalities is calculated and reported

What Does the NIPT with Microdeletions Test Show?

The test provides:

• Risk assessment for major chromosomal abnormalities
• Screening for microdeletion syndromes
• Insights into fetal genetic health

Benefits of the NIPT with Microdeletions Test

• Non-invasive and safe for both mother and baby
• Early detection (from 10 weeks of pregnancy)
• Broader screening compared to standard NIPT
• High accuracy for major chromosomal conditions
• Helps in early medical decision-making

Limitations of the NIPT with Microdeletions Test

• Lower accuracy for rare microdeletions compared to common conditions
• Cannot confirm diagnosis (requires further testing)
• Possibility of false positives or false negatives
• Not all microdeletion syndromes may be included

Who Should Take the NIPT with Microdeletions Test?

• Pregnant women seeking comprehensive prenatal screening
• High-risk pregnancies
• Couples with a history of genetic disorders
• Women undergoing IVF pregnancies
• Anyone advised by a doctor for advanced screening

Conclusion

The NIPT with Microdeletions Test is an advanced and comprehensive prenatal screening tool that goes beyond standard testing to detect rare genetic conditions early in pregnancy. It offers a safe, accurate, and non-invasive way to assess fetal health.

Although it is not a definitive diagnostic test, it plays a vital role in early risk detection and informed pregnancy care, helping parents and doctors plan the next steps effectively.

FAQs

What is the NIPT with Microdeletions Test and how is it different from standard NIPT?

The NIPT with Microdeletions Test is an advanced version of Non-Invasive Prenatal Testing (NIPT) that not only screens for common chromosomal abnormalities but also detects small missing segments of chromosomes (microdeletions). While standard NIPT focuses on conditions like Down Syndrome, this expanded test provides a broader genetic assessment, helping identify rare syndromes that may not be picked up in routine screening.

What is the NIPT with microdeletions test price in Delhi?

The NIPT with microdeletions price in Delhi generally ranges between ₹20,000 and ₹35,000, depending on the laboratory, technology used, and whether a basic or expanded panel is selected. 

When is the right time to take this test during pregnancy?

This test can usually be performed from the 10th week of pregnancy onwards, when enough fetal DNA is present in the mother’s bloodstream. Early testing allows for timely detection and better pregnancy management.

How is the NIPT with Microdeletions Test performed?

The procedure is simple and non-invasive. A blood sample is collected from the mother’s arm and sent to a specialized laboratory, where fetal DNA fragments are analysed using advanced genetic sequencing techniques to assess chromosomal patterns and detect potential abnormalities.

Is the NIPT with Microdeletions Test safe for the baby?

Yes, the test is completely safe because it only involves drawing blood from the mother. Unlike invasive tests such as amniocentesis, there is no risk of miscarriage or harm to the fetus, making it a preferred screening option.

What conditions can this NIPT with Microdeletions test detect?

In addition to common chromosomal abnormalities like Down Syndrome, the test screens for microdeletion syndromes such as DiGeorge syndrome, Cri-du-chat syndrome, Angelman syndrome, and Prader-Willi syndrome. These conditions are rare but can significantly impact a child’s development and health.

How accurate is the NIPT with Microdeletions Test?

The test is highly accurate for detecting common chromosomal abnormalities, with very high sensitivity and specificity. However, for rare microdeletion syndromes, the accuracy may be slightly lower, and results are reported as risk levels rather than confirmed diagnoses.

Do I need any preparation before taking the test?

No special preparation is required. You can eat and drink normally before the test. However, it is important to inform your doctor about your medical history, medications, IVF pregnancy, or multiple gestation, as these factors may influence the results.

How long does it take to get the results?

The results are typically available within 5 to 10 days, depending on the laboratory and testing method. Some labs may offer expedited reporting at an additional cost.

What happens if the test result shows a high risk?

If the test indicates a high risk for a chromosomal or microdeletion condition, your doctor may recommend confirmatory diagnostic procedures such as amniocentesis or chorionic villus sampling (CVS) to establish a definitive diagnosis.

Who should consider taking the NIPT with Microdeletions test?

This test is recommended for women with high-risk pregnancies, advanced maternal age, abnormal ultrasound findings, or a family history of genetic disorders. It is also suitable for those who want a more comprehensive prenatal screening.

Can I book the NIPT with Microdeletions Test near me?

Yes, you can easily book this test through diagnostic labs or online healthcare platforms by searching for “NIPT with microdeletions test near me” or “how to book test near me,” making it convenient to access in Delhi and nearby areas.