Test & specimen information

Prenatal diagnosis

Overview

There are a variety of prenatal diagnostic test options now available for women and couples who: 

have received a high chance screening result (eg. from NIPT, serum screening, or carrier screening) 
have a known history of a single gene condition 
have a fetal anomaly on ultrasound

In the prenatal setting, cytogenetic based microarray and FISH are first-line tests.
If additional genomic based testing is indicated please refer to the relevant test options below.

For assistance with test ordering refer to our flowchart or contact us.