Prenatal-Perinatal Diagnosis

Non-invasive prenatal testing (NIPT)

External provider NIPT can be accessed at any PathWest collection site. There are currently many private NIPT service providers with alternative and varied products.

While the various NIPT services overlap for detection of the main targeted abnormalities, there may be differences in sample kits, technological approaches, test accuracy within specific clinical scenarios, range of detected abnormalities, turnaround time and cost.

Due to specific collection container requirements, sample collection can only be arranged for external NIPT providers listed on the PathWest Test Directory.

Please note, sample collection and processing are greatly facilitated if the request form specific to the service provider is appropriately completed and payment is confirmed.

Collection kits will be available in stock at PathWest sites for NIPT brands listed on the PathWest Test Directory. Please contact your local PathWest collection centre to ask about kit availability.

Download a Harmony or Percept referral form for a NIPT from an external provider.

Prenatal testing

PathWest Department of Diagnostic Genomics offers a comprehensive range of prenatal tests, including:

  • Rapid aneuploidy testing by QF-PCR
  • Karyotyping
  • Chromosomal microarray
  • Single gene or gene panel analysis
  • Known familial variant analysis (advance notification of test request is required)

Prenatal testing for ongoing pregnancies requires a specific request form for appropriate testing and maternal blood sample to be sent for maternal cell contamination studies and confirmation of identity of the prenatal sample.

Pregnancy loss testing

All requests received by PathWest for chromosomal/cytogenetic analysis of fresh products of conception or fetal tissue are analysed by chromosomal microarray. This testing is most relevant for investigation of couples with recurrent pregnancy loss or where fetal structural anomalies have been identified.

Prior to sending a test request, it is important that couples/individuals are counselled by the requesting clinician regarding the benefits, limitations and complexities of microarray. To help guide this conversation and inform patient consent, resources are available from the Clinician Resources page.

Last Updated: 09/10/2023