Jun 17 / Associate Professor Kym Mina, Genetic Pathologist

Screening for fetal chromosomal aneuploidies using non-invasive prenatal testing (NIPT)

Not all NIPT options are equal, and positive predictive value varies significantly depending on the type of aneuploidy and maternal age.

In this clinical overview, Associate Professor Kym Mina unpacks the key differences between targeted and genome-wide NIPT, how to interpret high-risk results including the implications of confined placental mosaicism and what unexpected findings such as rare autosomal trisomies and discordant fetal sex results may mean for your patient.

A practical update for GPs who want to move beyond the basics and order with confidence.