Non-invasive Prenatal Testing (NIPT) – your options explained!

There is increasing demand for private non-invasive prenatal testing. The beauty and whole point of NIPT is the accurate results, simplicity and the fact that it is safe/non-invasive procedure. This also could prevent unnecessary invasive tests such as amniocentesis.

So, what is NIPT?

Simply put… the test involves a simple blood sample being taken. The blood is then sent off to a lab where the DNA is analysed to pinpoint baby’s risk for several genetic disorders.

In more complex terms… In pregnancy some fragments of the fetal DNA circulate in the maternal bloodstream and are even detectable as early as week 5 of the pregnancy. The quantity increases as the age of the pregnancy increases and from the 10th week of pregnancy there is enough DNA to analyse. One or two vials of blood is collected and sent to one of the groups state of the art laboratories. Results are available 7 to 10 days from receipt of the sample (it is usually a lot less but the lab can have busy periods). The test is available for singleton and twin pregnancies and all IVF pregnancies (and vanishing twin syndrome).

The reliability and sensitivity of the test is outstanding with the test being reliable at even a low fetal fraction (FF>2%) with an incidence of false positives of <0.1%. The latest data shows an incidence rate of 0% false negatives.

Which Chromosomes can be analysed?

  • Trisomy 21 – Downs Syndrome
  • XXX – Trisomy X
  • Trisomy 18 – Edwards Syndrome
  • XXY – Klinefelter Syndrome
  • Trisomy 13 – Patau Syndrome
  • XYY – Jacobs Syndrome
  • Monsomy X – Turner Syndrome
  • DiGeorge Syndrome
  • Wolf-Hirschhom Syndrome
  • Cri-du-chat Syndrome
  • Jacobsen Syndrome
  • Prader-Willi Syndrome
  • Langer-Gledion Syndrome
  • Angelman Syndrome
  • Smith-Magenis Syndrome
  • 1p36 deletion Syndrome

Want to know more?

If you are still unsure, would like more information, or want to book in… contact us or read this leaflet for more information:

Leave a Reply