Non-invasive prenatal testing (NIPT)

What is NIPT?

 Non-invasive prenatal testing (NIPT) screens for the presence of specific chromosome disorders in the developing foetus all through one blood test.

By analysing proportions of cell-free DNA fragments NIPT can screen for the presence of absence of specific chromosome disorders

 NIPT is more accurate than first trimester maternal serum screening and ultrasound in identifying pregnancies with or without these disorders.

How accurate is it?

 It is important to note that NIPT is a screening test and does not provide a definitive genetic diagnosis as NIPT cannot differentiate potential chromosome differences between the placenta and foetus.

 NIPT has a >99% Sensitivity with <1 in 1,000 false positives.

 

When to perform NIPT

NIPT should not be performed before 10 weeks’ gestation.

Please note a booking ultrasound is required prior to NIPT to confirm dates and foetal viability.

What is screened?

  • NIPT is designed to screen for:

  •      Trisomy 21 (downs syndrome)

  •      Trisomy 18 (Edwards Syndrome)

  •      Trisomy 13 (Patau syndrome)

  •      Sex chromosome aneuploidy (sex chromosome abnormalities such as turner syndrome/Klinefelter)

  •      Assess foetal Sex ( i.e. male or female- note this is optional)

 

Who Is eligible for NIPT?

  •        Women who are at least ten weeks pregnant

  •        Women with singleton and twin pregnancies

  •        Women with IVF and Non-IVF pregnancies

Who is NIPT not suitable for?

  •         Recent maternal blood transfusion

  •   Maternal chromosome mosaicism

  •         Maternal prior organ transplant/stem cell transplant

  •         Maternal Autoimmune disease requiring immunotherapy

  •         Fetoplacental mosaicism/confined placental mosaicism

  •         Maternal neoplasm ( benign and malignant)

  •         Pregnancies with foetal demise/vanishing twin

What happens if an abnormality is shown?

If any abnormality it shown, then this will need confirmed with further testing such as amniocentesis. This should be discussed with an obstetric/ Foetal specialist. It is recommended you are registered with an obstetrician and midwife prior to NIPT testing.

 

Does this include an ultrasound scan?

 No, this is a blood test only.  We do not provide an ultrasound scan.

 

 Price £400