Non-invasive perinatal testing (NIPT)

Last revised by Joshua Yap on 7 May 2023

Non-invasive perinatal testing (NIPT) is an antenatal screening technique that has relatively recently come into practice. It relies on the detection of small amounts of cell-free fetal DNA to be detected in the maternal bloodstream, hence allowing prenatal genetic diagnosis to occur by way of a maternal blood test. It can be performed from 10 weeks of gestation.

Pathology

Approximately 10% of cell-free DNA in the maternal bloodstream is cell-free fetal DNA (cffDNA); this in fact represents DNA from the cytotrophoblast of the placenta. In the setting of a fetal trisomy such as trisomy 21, trisomy 18, or trisomy 13, current technologies can accurately detect the small relative increase in the number of chromosomal fragments related to the particular chromosome (e.g. chromosome 21 for Down syndrome) with a high degree of accuracy.

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