What is non-invasive prenatal testing (NIPT) and what disorders can it screen for?

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Non-invasive prenatal testing (NIPT) is a non-invasive, safe and simple prenatal test used to accurately assess for genetic disorders in a foetus. This test uses advanced bioinformatics technology  to assess the foetal DNA (of placental origin) present in the mother’s blood.

NIPT detects aneuploidy (extra/missing copy) of a chromosome and is used for ascertaining the following chromosomal disorders in the foetus:

  • Down syndrome (Trisomy 21, presence of extra chromosome 21)
  • Patau Syndrome (Trisomy 13, presence of extra chromosome 13)
  • Edward’s syndrome (Trisomy 18, presence of extra chromosome 18)
  • Turner syndrome (Monosomy X)
  • Klinefelter syndrome (Triple X)
  • Jacob’s syndrome (Extra Y chromosome)

NIPT can also be used for screening additional chromosomal aberration, caused due to missing (deleted) or duplicated (copied) portions of the chromosome.

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