{"id":8108,"date":"2025-10-31T19:04:37","date_gmt":"2025-10-31T15:04:37","guid":{"rendered":"https:\/\/genomics.ge\/?page_id=8108"},"modified":"2025-11-03T15:48:16","modified_gmt":"2025-11-03T11:48:16","slug":"nipt","status":"publish","type":"page","link":"https:\/\/genomics.ge\/en\/genetic-research\/nipt\/","title":{"rendered":"NIPT"},"content":{"rendered":"

Non-Invasive Prenatal Testing NIPT<\/span><\/span><\/h1><\/header><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>
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  • What is NIPT?<\/span><\/li>
  • About the analysis<\/span><\/li><\/ul>
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    <\/p>\n

    Non-invasive prenatal testing (NIPT)<\/b> is a screening method used during pregnancy to analyse small fragments of fetal DNA circulating in the maternal bloodstream. NIPT can detect common <\/span>chromosomal abnormalities<\/b> and <\/span>selected microdeletions,<\/b> depending on the specific test design.<\/span><\/p>\n

    The test is called <\/span>non-invasive<\/span><\/i> because it requires only a <\/span>maternal blood sample<\/b>, posing no risk to the fetus.\u00a0<\/span><\/p>\n

    NIPTIFY is a NIPT (Non-invasive Prenatal testing) solution provided by Celvia CC AS and used in Genomics Lab.<\/span><\/p>\n

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    <\/p>\n

    During the NIPTIFY test, <\/span>cell-free fetal DNA (cffDNA) <\/b>isolated from a pregnant woman\u2019s blood sample is analysed with the Focus Plus method (<\/span>Fragmented DNA Compact Sequencing Assay for enriched fetal material<\/span><\/i>) and sequenced with Illumina technology. The risk estimates for fetal chromosomal diseases are calculated based on whole genome data.<\/span><\/p>\n

    NIPTIFY screens for the most common chromosomal conditions, including:<\/span><\/p>\n

      \n
    • Trisomy 21 (Down syndrome)<\/b><\/li>\n
    • Trisomy 18 (Edwards syndrome)<\/b><\/li>\n
    • Trisomy 13 (Patau syndrome)<\/b><\/li>\n
    • Monosomy X (Turner syndrome) <\/b>\u2013 when one X chromosome is missing in a female fetus<\/span><\/li>\n
    • 22q11 microdeletion (DiGeorge syndrome)<\/b><\/li>\n<\/ul>\n

      NIPTIFY performs a genome-wide study and has the power to identify copy-number variances in entire chromosomes (trisomies\u00a0or\u00a0monosomies), deletions and duplications in clinically significant regions (microdeletions or microduplications), and point mutations in mitochondrial DNA. There are five types of conditions under analysis:<\/span><\/p>\n

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      • Trisomy or Monosomy<\/b> in autosomal chromosomes other than 13, 18, 21.<\/span><\/li>\n
      • Sex chromosome aneuploidies<\/b> like\u00a0Klinefelter (XXY), Jacobs (XYY), or triple X (XXX) syndromes.\u00a0<\/span><\/li>\n
      • Segmental aneuploidies<\/b> in chromosomes 13, 18, 21, i.e., partial trisomy or monosomy of a chromosome.<\/span><\/li>\n
      • Microdeletions and Microduplications larger than 1 Mb. <\/b>The <\/span>18 <\/b>most clinically relevant and frequent regions are analyzed.<\/span><\/li>\n
      • <\/b>DNA point mutations in mitochondrial DNA<\/b>. With some mitochondrial DNA mutations (1095T>C, 1494C>T, and 1555A>G), the patient may develop hearing loss and deafness when treated with antibiotics of the aminoglycoside class. Alternative antibiotics can be used if the mutation is present.<\/span><\/li>\n<\/ul>\n

        NIPTIFY offers exceptional accuracy:<\/span><\/p>\n

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        • Sensitivity<\/b> greater than <\/span>99.9%<\/b> for trisomies 21, 18, and 13, monosomy X, and 22q11 microdeletion.<\/span><\/li>\n
        • Specificity<\/b> greater than <\/span>99.9%<\/b> for trisomies 21 and 18, and the 22q11 microdeletion.<\/span><\/li>\n
        • Specificity<\/b> of <\/span>99.2%<\/b> for monosomy X and trisomy 13.<\/span><\/li>\n<\/ul>\n

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          Frequently Asked Questions

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          <\/div>
          <\/span>
          Why NIPT?<\/div><\/div>
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          Pregnancy screening involves a series of tests such as ultrasound and blood biochemistry, performed at different stages of pregnancy to assess various parameters. NIPT is a screening procedure which can be performed from as early as 10+ weeks of pregnancy and has the following advantages:<\/span><\/p>\n

          Key Advantages of the NIPTIFY Test:<\/b><\/p>\n

          \u2013 Non-invasive.<\/b> The test requires only a sample of the mother\u2019s venous blood, completely eliminating the risks associated with invasive procedures.<\/span><\/p>\n

          \u2013 Direct fetal DNA analysis: <\/b>It examines <\/span>Circulating cell-free DNA (cfDNA)<\/b>, which contains fragments of both maternal and placental origin, <\/span>allowing highly accurate assessment<\/b> of the fetus\u2019s genetic status without relying on biochemical markers.<\/span><\/p>\n

          \u2013<\/b> High accuracy: <\/b>The test is highly reliable, with <\/span>sensitivity and specificity above 99%,<\/b> especially for trisomies <\/span>21, 18<\/b>, and <\/span>13<\/b> in singleton pregnancies<\/span>.<\/b><\/p>\n

          \u2013<\/b> Earlier testing<\/b>. Available from <\/span>10 weeks of pregnancy<\/b>, allowing time for subsequent confirmation of the diagnosis and decision-making.<\/span><\/p>\n

          \u2013<\/b> Comprehensive analysis<\/b>: In addition to common aneuploidies, NIPTIFY screens for <\/span>microdeletion syndromes, sex chromosome aneuploidies,<\/b> and some <\/span>rare chromosomal abnormalities<\/b>, providing broader clinical insight.<\/span><\/p>\n

          \u2013 NIPTIFY<\/b> uses the modern\u00a0<\/span>Focus Plus<\/b>\u00a0DNA sequencing technology, which enriches fetal DNA. As a result, NIPTIFY analysis\u00a0<\/span>3.6 times more<\/b>\u00a0fetal origin DNA than a regular NIPT test, increasing the accuracy and sensitivity.<\/span>
          \n<\/span>\u2013 NIPTIFY<\/b> is suitable for pregnancies achieved through assisted reproductive technologies (ART), including IVF.<\/span><\/p>\n<\/div>\n<\/div><\/div>

          <\/span>
          Is it safe?<\/div><\/div>
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          The test only requires a one-time blood collection, is risk free, and not stressful for the pregnant women.<\/span><\/p>\n

          Please note. <\/i><\/b>NIPT does not replace the traditional screening procedures. NIPT has higher sensitivity for genetic disorders and is available earlier, but ultrasound can also assess other developmental defects<\/span><\/i>. <\/i><\/b>NIPT is a <\/span><\/i>screening<\/i><\/b>, not a diagnostic test; High-risk results must be confirmed by invasive diagnostic procedures such as <\/span><\/i>chorionic villus sampling (CVS)<\/i> or <\/span><\/i>amniocentesis<\/i>.<\/span><\/i><\/p>\n<\/div>\n<\/div><\/div>

          <\/span>
          When should I do NIPT?<\/div><\/div>
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          NIPTIFY is a CE-IVD marked screening test assessing fetal chromosomal disease risk from 10+ weeks of gestation.<\/span><\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section>

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