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    What Is a NIPT for All Chromosomes Test?

    Non-Invasive Prenatal Testing (NIPT) is a blood test that can be performed during pregnancy to assess the risk of the baby having certain genetic conditions. Small fragments of the baby’s DNA (known as cell-free DNA or cfDNA) are released into the mother’s bloodstream from the placenta. NIPT examines this cfDNA to identify foetal chromosomal abnormalities without requiring invasive tests like amniocentesis (sampling amniotic fluid) or chorionic villus sampling (CVS – testing placental tissue). This test helps detect conditions caused by missing or extra chromosomes.

    NIPT is mainly used to screen for:

    • Trisomies : An extra chromosome, such as Trisomy 21 (Down syndrome, the most common genetic disorder), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).

    • Sex chromosome aneuploidies : Abnormal numbers of X or Y chromosomes, including Turner syndrome, Klinefelter syndrome, and Triple X syndrome.

    • Microdeletions : Some panels also screen for microdeletions, such as 22q11.2.

    The benefit of NIPT lies in its non-invasive nature; only a blood sample is needed, whereas other chromosomal abnormality tests require invasive procedures. Since NIPT is a screening test, it estimates the likelihood of a condition but does not confirm a diagnosis. Should a high-risk result occur, additional tests like amniocentesis or CVS may be recommended for confirmation. In Hyderabad, home-based NIPT testing offers the convenience of sample collection from home, along with quick results.

    NIPT for All Chromosomes Test Parameters

    The NIPT test measures two primary factors: chromosomal abnormalities (such as Down syndrome – Trisomy 21, Trisomy 18, and Trisomy 13) and abnormalities in sex chromosomes (such as Klinefelter syndrome, Turner syndrome, Triple X syndrome, and XYY syndrome).

    By examining cfDNA (small fragments of the baby’s DNA found in the mother’s bloodstream), NIPT can identify potential genetic issues. These cfDNA fragments come from the placenta, the organ responsible for supplying oxygen and nutrients to the developing baby.

    NIPT is usually conducted after the 10th week of pregnancy, as by this time, there is typically enough foetal DNA in the maternal blood for accurate analysis. While NIPT is highly reliable for detecting Down syndrome (with a 99% accuracy rate), its accuracy decreases slightly for conditions like Trisomy 18 and Trisomy 13. Factors such as carrying multiples, being a surrogate, or maternal obesity can influence the accuracy of the test.

    To ensure the test works effectively, the foetal fraction – which refers to the percentage of cfDNA in the mother’s blood coming from the placenta – must be at least 4%. If there is insufficient baby’s DNA, the test may not provide clear or accurate results. This could occur if the test is carried out too early, there is an issue with the sample, or if the mother has a higher body weight. Different methods of NIPT analyse cfDNA, with most counting all fragments to detect chromosomal abnormalities.

    NIPT for All Chromosomes Test Preparation

    To guarantee accurate results, adhere to the following essential instructions before taking the NIPT test:

    • Prerequisites: There are no specific requirements, like fasting, for the NIPT test.

    • When is the Best Time to Take the Test? The NIPT test can be taken at any point during the day. It is most commonly carried out after the 10th week of pregnancy when foetal DNA levels are sufficient for accurate testing.

    • Who Should Get the NIPT Test? Pregnant individuals who are at a higher risk of having a child with chromosomal conditions should undergo this test. It is also available for all pregnant individuals.

    • Cautions to Take Before the NIPT Test: No special precautions are required prior to taking the NIPT test.

    Why Take the NIPT for All Chromosomes Test?

    NIPT is advised for pregnant individuals where there may be an increased risk of genetic conditions, including:

    • Pregnant individuals across all risk levels : Once recommended only for high-risk pregnancies, NIPT is now recommended for all pregnant individuals, regardless of risk level.

    • Parents with a family history of genetic disorders : Individuals with a history of having a child with a chromosomal abnormality may choose NIPT to evaluate the chances of similar conditions in their current pregnancy.

    • Individuals with concerning ultrasound results : If an ultrasound identifies potential abnormalities in foetal development, NIPT can help assess the likelihood of certain genetic conditions.

    • Individuals with abnormal early screening results : If previous prenatal tests suggest a potential concern, NIPT offers a more accurate evaluation of chromosomal abnormalities.

    • Expecting parents seeking comprehensive genetic screening : As technology in genetic testing advances, NIPT is expanding to detect more genetic disorders, providing early insights for prenatal care.

    NIPT is highly reliable (94-99%) for detecting common chromosomal disorders, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). It can also identify sex chromosome disorders like Turner syndrome (a missing X chromosome) and Klinefelter syndrome (an extra X chromosome in males).

    FAQs on the NIPT for All Chromosomes Test in Hyderabad

    The NIPT test in Hyderabad costs ₹11000. This covers home sample collection, which will take place within 60 minutes of booking. Results will be provided within 287 hours after the sample is collected.

    Yes, doorstep sample collection for NIPT testing is available through Orange Health Labs. Upon scheduling the test, a trained eMedic expert will arrive at your location within 60 minutes to collect the sample.

    NIPT screens for genetic conditions such as Down syndrome, Edwards syndrome, and Patau syndrome, along with sex chromosome disorders like Klinefelter syndrome. It helps assess the risk of chromosomal issues during pregnancy.

    You do not need to fast before having the NIPT test.

    To arrange an NIPT test with Orange Health Labs, simply follow these steps:

    • Find the Test : Search for "NIPT test" and select Orange Health Labs from the list.

    • Confirm Appointment : Fill in your details, choose your location, and select a time for sample collection that works for you.

    • Sample Collection : A trained eMedic will come to your home to collect the blood sample.

    • Processing and Results : The sample will be processed at our NABL-certified, ICMR-approved laboratory, and the results will be delivered via email or WhatsApp within 287 hours.

    NIPT results are expressed as a "Z score." A Z score within the range provided for each condition is usually considered to indicate a low risk. For example, a Z score of -6 to 2.8 is considered low risk for Down syndrome.

    Test results are generally provided within 287 hours following the sample collection.

    The decision to take this test and how often it is needed is determined by your personal medical condition and your doctor's advice.

    The NIPT test checks for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome disorders such as Klinefelter syndrome, Turner syndrome, Triple X syndrome, and XYY syndrome.

    The NIPT test is accessible in various localities across Hyderabad, including but not limited to Banjara Hills, Jubilee Hills, Gachibowli, Madhapur, Tarnaka, Abids, Koti, Mehdipatnam, Dilsukhnagar, Uppal, LB Nagar, Nallagandla, Nizampet, Attapur, Hitech City, Kondapur, Begumpet, Somajiguda, Ameerpet, Panjagutta, Kukatpally, Miyapur, Manikonda, Secunderabad, and Malkajgiri.

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    References

    1. Cleveland Clinic. NIPT test (Noninvasive Prenatal Testing): What To Expect.  Available from:  https://my.clevelandclinic.org/health/diagnostics/21050-nipt-test
    2. Medline Plus. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics  Available from:  https://medlineplus.gov/genetics/understanding/testing/nipt/
    3. Non-invasive Prenatal Screening or Testing (NIPS / NIPT).  Available from:  https://me.health.gov.il/en/parenting/planning-a-family/pregnancy-testing-and-monitoring/tests-during-pregnancy/nipt-test/
    4. Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions. Genes.  Available from:  https://www.mdpi.com/2073-4425/14/1/160