Body & Fitness

What types of genetic testing are available in NZ?

If you chose to undergo genetic testing, there are a number of options available to you.

1. Before pregnancy: Preconception genetic carrier screening 

Genetic-carrier screening gives people information about their risk of having a child with three specific genetic conditions – cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). It can be arranged through your doctor at Fertility Associates or a genetic counsellor. The test costs approximately $550.

2 At embryo stage: Pre-implantation genetic diagnosis (PGD)

Embryos can be tested for serious genetic disorders using PGD by people who have a known risk of a serious genetic disorder that they could pass on. Disorders can be divided into two types: single-gene defects – including CF, FXS, SMA and Huntington’s Disease – and chromosome abnormalities, such as trisomy 21, which causes Down syndrome, or translocations (rearrangements of parts of chromosomes). Most PGD is publicly funded and covers two cycles of treatment.

3 During Pregnancy:

Non-invasive prenatal test (NIPT) Cell-free foetal DNA from maternal blood is tested for the most common chromosome conditions seen in newborns. The NIPT test can be performed any time from 10 weeks of pregnancy. NIPT screens for trisomies Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) and Turner syndrome (monosomy X). Conventional invasive prenatal tests are also available, such as chorionic villus sampling (CVS) or amniocentesis. These also test for chromosomal abnormalities and genetic conditions.

Note: Pre-natal and NIPT are available for natural births. PGD is for fertility-assisted pregnancies.

Want to know more?

Visit, make an appointment with a specialist or talk with your GP.

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