Understanding prenatal genetic screening in early pregnancy
Pregnancy often comes with many questions, particularly in the early weeks as parents begin preparing for the journey ahead and thinking about how to best support their growing baby. Alongside routine antenatal care, some families may choose to learn more through prenatal genetic screening.
One option available from 10 weeks of pregnancy is non-invasive prenatal screening (NIPS), sometimes called NIPT. This type of screening analyses small fragments of placental DNA circulating in the mother’s bloodstream to estimate the likelihood of certain chromosomal conditions. The test can also identify your baby’s sex from as early as 10 weeks, should you choose to find out.
Illumiscreen is a prenatal screening option available throughout New Zealand that screens for conditions including Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13). Unlike other screening pathways, it assesses all 23 chromosome pairs, providing broader insight into your baby’s chromosomal health.
The screening may also identify sex chromosome differences, such as Turner syndrome, which can provide further information about your baby’s chromosomal development during pregnancy.
For many parents and whānau, the value of screening is not simply about results, but about having access to additional information during pregnancy. While NIPS is a screening test, and not a diagnostic test, it may help guide discussions with healthcare providers and determine whether further assessment is recommended.
The process itself is relatively straightforward. After discussing the test with your lead maternity carer, GP, or obstetrician, and receiving your referral letter, a blood sample can be collected at any Awanui collection centre across Aotearoa. Because the test only requires a maternal blood sample, there is no direct risk to the pregnancy from the screening procedure itself.
Illumiscreen testing and reporting are performed in New Zealand, unlike other overseas-based screening pathways, so your sample and results will remain in Aotearoa throughout the testing journey.
Results are generally available within one week, although turnaround times can vary if the laboratory needs to do additional checks, helping families access information earlier in pregnancy when it may feel most useful.
Every pregnancy journey is different, and decisions around screening are personal. Some people choose screening for reassurance, while others may wish to access additional information to help them prepare, access support, or better understand potential next steps. Discussing available options with your healthcare provider can help determine what feels right for you and your family.
Illumiscreen also works alongside experienced genetic counsellors who can support healthcare professionals and families in understanding high-risk results and navigating further conversations if needed.
To learn more about prenatal genetic screening or whether Illumiscreen may be right for you, speak with your healthcare provider or visit Illumiscreen.co.nz.
