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Non-Invasive Prenatal Screening (NIPT)

We proudly provide world-class prenatal screening test facilities. A parental screening test is mandatory to determine the potential risks of genetic disorders of the fetus or an unborn child. For example, Patau syndrome, Down syndrome, Edwards syndrome etc are examples of some of such genetic disorders.

Reducing the risks of miscarriage and the screening of multiple disorders at a time has never been easier before. As a matter of fact, Non Invasive Prenatal Screening of NIPT is performed just after a simple blood test. However, the accuracy of this DNA-based test has always been above 90% in almost every case. This test determines the presence of fetal genomic materials present in the mother’s blood. This test also plays a key role to assess the health development of the unborn child.

As a matter of fact, a healthy human body contains 23 pairs of chromosomes that includes 22 pairs of autosomes and one pair of sex chromosome in both male and female. Knowingly, any changes in this ratio may cause several kinds of developmental disorders, even cancer. This test (NIPT) has always been considered as the most sensitive and accurate tests of all time for the count of unbalanced chromosomes. In a word, NIPT has always been one of the most recommended tests since the beginning as that can help to stay away from so many kinds of potential risks.

What does NIPT screen for?

  • Down’s syndrome or Trisomy 21
  • Trisomy 13 or Patau Syndrome
  • Trisomy 18 or Edwards Syndrome
  • Other chromosomal aneuploidies

Indications for NIPT

  • An increased maternal age
  • Positive in first trimester when a double marker test has been performed
  • Also, positive in second trimester by triple marker test
  • IVF pregnancy that involves a donor egg or treatment
  • Abnormal ultrasound test result
  • Any previously existing pregnancy with chromosomal aneuploidies.

Contraindications for NIPT

  • History of any recurrent miscarriages.
  • The Pregnant woman’s increased gestation age

Steps involved in NIPT

  • The blood is collected from the mother and stored in a specialized sample collection tube.
  • The cff-DNA is separated from the blood.
  • Samples are prepared following a specific method that involves the processing of the cff-DNA for assessing quality.
  • NGS of the cff-DNA
  • Bioinformatics tools are used for data analysis.
  • Generation of the report.
  • A well-verification of the report before releasing.

Advantages of NIPT

  • The expertise for the collection of the samples is minimal.
  • There remains a risk of miscarriage that comes with the invasive tests, which is avoided here.
  • This can be considered as the earliest prenatal test, which positively detects the high-risk cases accurately for amniocentesis.

Limitations of NIPT

  • This is merely a kind of screening test and this is why a diagnostic test is also recommended for confirmation even after a positive result.
  • When the matter is about multiple pregnancy or twins, then it becomes really challenging to differentiate and identify the source of cff-DNA through this test.
  • The quantity or amount of cff-DNA can be influenced by factors like BMI of the mother, Gestation age etc.
  • The test result may have certain implications on any future course of action.

Technology in NIPT

The newly introduced technology named Next Generation Sequencing Technology or NGS have already brought a huge change. It has already helped to overcome the drawbacks of conventional tests, which has also helped to boost the value of NIPT. A combination of NGS technology and a genuine bioinformatics solution may turn NIPT into a perfect screening tool.