Non Invasive Pre-Natal Test (NIPT)?

August 28, 2024 / Patient Education
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NIPT is also called Non-Invasive Chromosomal Test.

 

  1. What is this test?

    It is a test done by taking samples of mother’s blood. During pregnancy, some amount of fetal (baby’s) DNA will be present in the mother’s blood. This baby’s DNA present in mother’s blood is used to test for some common genetic/chromosome problems that can happen in a fetus. *This is not a test done using baby’s blood

  2. When is it done?

    Depending on different labs and companies, it varies. Usually it is recommended to be done anywhere from 10-13weeks of pregnancy.

  3. How long will it take for results to come back?

    Depending on company and logistics, it can be anywhere from 1-2 weeks.

  4. What will happen after the test?

    If the test reports certain conditions to be high risk for certain problems, then the mother will likely have to undergo more tests, usually in the form of amniocentesis(taking fluid from waterbag of the baby) or more advanced genetic testing like Micro-Array DNA tests using tissue from placenta. Some labs provide free follow-up tests if the first report comes back as high risk. Most labs also provide some sort of insurance cover in case of high risk result and follow up tests are given free of charge, as well as cover for a false negative result.

  5. What are the common conditions being tested?

    Screening is provided for chromosome aneuploidies, sex chromosome aneuploidies and common microdeletions as the below.
    *Important to note that it is not possible to test for all conditions in humans & these are only EXAMPLES of some conditions that can be screened for.
    • Chromosome Aneuploidies:
      • Trisomy 21 (Down syndrome)
      • Trisomy 18 (Edwards syndrome)
      • Trisomy 13 (Patau syndrome)
    • Sex Chromosome Aneuploidies:
      • 45,X (Turner syndrome)
      • 47,XYY syndrome
      • 47,XXX (Triple X syndrome)
      • 47,XXY (Klinefelter syndrome)
      • 47,XXY (Klinefelter syndrome)
    • Microdeletions:
      • 22q11.2 deletion syndrome (DiGeorge syndrome 1)
      • 1p36 deletion syndrome
      • 2q33.1 deletion syndrome
      • Prader-Willi/Angelman syndrome
      • Cri-du-chat syndrome
      • Langer-Giedion Syndome

  6. Is it compulsory?

    At the moment, it is not compulsory in the local setting, but is an option for parents, or some parents with relevant risk factors and history. Discuss with your doctor during your pre-pregnancy or antenatal visits to determine the need or indication for testing.

非侵入性产前检测（NIPT）

也称为非侵入性基因体测试

 

  1. 这个测试是什么？？

    这是通过采集母亲血液样本完成的测试。 在怀孕期间，定量的胎儿（婴儿）DNA将存在于母亲的血液中。这个婴儿的DNA存在于母亲的血液中，用于测试一些常见，可能发生在胎儿的遗传/基因问题
    *这不是用婴儿的血液做的测试。

  2. 什么时候检验？

    根据不同的实验室和公司，它会有所不同。通常建议在怀孕10-13周进行。

  3. 报告要多久才能公布？

    根据公司和流程，它可以是1-2周左右。

  4. 测试后会发生什么？

    如果测试报告某些情况是高风险，那么母亲可能必须接受更多的测试，通常以从婴儿的水袋中抽取液体或更高级的基因测试，如使用胎盘组织的Micro-Array DNA测试。如果第一份报告声明高风险，一些实验室有提供免费的后续测试。大多数实验室也提供某种保险，在高风险结果的情况下，后续测试费用是免费的，以及保险虚假阴性结果。

  5. 普遍测试的是什么疾病？

    如下所示：
    *重要注意，没有任合测试可以筛选一切疾病。通常可以检测的疾病列子如下
    • Chromosome Aneuploidies:
      • 三体 21 （唐氏综合症）
      • 三体 18 （爱德华综合征）
      • 三体 13 （帕陶综合征）
    • Sex Chromosome Aneuploidies:
      • 45，X（特纳综合征）
      • 47，XXX（三重X综合征）
      • 47，XXY（克莱恩费尔特综合征）
      • 47，XYY综合征
    • Microdeletions:
      • 22q11.2 缺失综合征（迪乔治综合征 1）
      • 1p36 删除综合征
      • 2q33.1 删除综合征
      • 普拉德-威利/安吉尔曼综合征
      • 克里杜聊天综合征
      • 兰格-吉迪翁·辛多姆病症

  6. 是强制性的吗？

    目前，这不是强制性的检验，而是父母或一些有相关风险因素和病史的父母选择。在怀孕前或产前检查期间与您的医生讨论，以确定检测需求或指示。