The diagnosis can be confirmed after birth by chromosome analysis of tissue (skin) obtained from the affected infant. Triploidy cannot be diagnosed by chromosome microarray testing. The accuracy of non-invasive prenatal testing using cell-free fetal (cff) DNA in the diagnosis of triploidy is still being studied.

When is triploidy detected?

The prevalence of triploidy at the 11–14-week ultrasound scan is approximately 1:33001. Most triploid fetuses undergo spontaneous demise before 20 weeks' gestation, and the incidence of triploidy in liveborn infants is approximately 1:10 0002, 3.

Can NIPT detect triploidy?

Because Panorama uses a unique technology to truly distinguish between the mother's and the baby's DNA, it is the only NIPT that tests for triploidy, and it has the highest accuracy in determining the sex of the baby (optional).