Genetic screening

A range of genetic testing options can be carried out at different stages of your fertility journey, starting even before you become pregnant. 


Genetic carrier screening

Repromed currently utilises the genetic carrier screening test provided by Victorian Clinical Genetics Services (VCGS) in Australia is a simple saliva test which can establish whether you or your partner are carriers of one of three common inherited genetic conditions:

  • Cystic Fibrosis (CF)
  • Fragile X Syndrome (FXS)
  • Spinal Muscular Atrophy (SMA)

Of the three disorders, Cystic Fibrosis is the most common with 1 in 25 people being carriers.

Without screening most people are unaware they carry the changed gene as often there is no family history of these disorders. Carrier screening before or during the early stages of pregnancy can help to determine your risks of having a child with a genetic condition.

Repromed arrange for the testing in New Zealand and send to VCGS for screening. The test is called Prepair. See our costs.

More information about these genetic conditions and the Prepair testing process is available here.

During IVF treatment

There are two options available to you for genetic testing during IVF treatment: PGS or Pre-implantation Genetic Screening (also known as PGT-A) and PGD or Pre-implantation Genetic Diagnosis.

1. PGS: Pre-implantation Genetic Screening (also known as PGT-A)

One of the most common causes of unsuccessful pregnancy is chromosomal abnormality (known as ‘aneuploidy’), which means there is a loss or gain of one or more chromosome. Repromed is proud to be the first in New Zealand to offer Pre-implantation Genetic Screening (PGS) using Next Generation Sequencing (NGS) which involves screening embryos for chromosomal defects during a standard IVF cycle, in a process called EmbryoSelect.

Embryos with the correct number of chromosomes can then be selected for transfer which improve the chances of pregnancy per embryo transfer and the development of a healthy baby. 

Benefits of PGS:
  • Reduces the likelihood of miscarriage.
  • Reduces the overall cost associated with multiple IVF cycles and embryos.
  • Faster time to pregnancy.
PGS may be appropriate if the person:
  • Is 36 years and over.
  • Has had repeated IVF failure.
  • Has had recurrent miscarriage.
  • Has had a previous pregnancy with a chromosome abnormality.

PGS can be carried out in a standard IVF cycle and includes an embryo biopsy and genetic testing. At Repromed, you will have a personalised plan and your fertility doctor will be able to advise the cost to include PGS with your treatment and tell you more about the process.

2. PGD: Pre-implantation Genetic Diagnosis

If you or your partner have a family history of genetic disease or you are a known carrier of a genetic condition, you may also wish to include pre-implantation genetic diagnosis (PGD) as part of your IVF treatment.

Pre-implantation genetic diagnosis (PGD) is a procedure used to test an IVF embryo for a specific genetic condition (such as cystic fibrosis or Huntington disease). This can prevent certain diseases being passed on to a child.

PGD differs from Pre-implantation Genetic Screening (PGS) in that it tests for one specific known genetic condition. PGS screens the embryo for chromosomal defects. PGD can be offered in combination with PGS where a disease-free and chromosomally balanced embryo can be selected for transfer.

Your fertility doctor will be able to discuss the associated costs in your personalised fertility treatment plan.

Clients who are identified as a high risk carrier may have access to publicly funded IVF treatment.

Once pregnant

Pre-natal blood test

Once pregnant, our team will refer you on for Non Invasive Prenatal Testing (NIPT) which uses cell-free foetal DNA found in maternal blood to identify the most common chromosome conditions seen in newborns.

This test screens for anomalies in chromosomes 21, 18, and 13 (Down, Edwards, and Patau syndromes). It also detects the most common anomalies in the sexual chromosomes X and Y.

This test detects chromosomal anomalies with very high precision.

The NIPT blood test can be performed at any time from 10 weeks of pregnancy, as confirmed by a dating scan. The blood test will be taken and tested using a deep sequencing technique.

Used in conjunction with a 12-week ultrasound, the results from these tests will inform you of the risk of foetal abnormality and whether further testing is necessary.


Please contact our team if you have any questions about genetic screening. If you’re a new client, you can book a free 15 minute phone consultation with a fertility doctor. Take the first step today.


Megan Black

Nurse Manager


Megan leads the nursing team through the continually changing face of IVF. She works in a multidisciplinary team, providing the essential organization between the doctors and laboratory and ensuring communication between all departments.

Megan started her IVF nursing career in the United Kingdom, working in two large London clinic’s before returning to New Zealand. She is also the Secretary of Fertility Nurses of Australasia.

I love working with people and see nursing as a vocation, not a job. I usually spend my downtime absorbed in a good book and planning my next travel adventure.