Every pregnancy carries a small risk of having a baby with a genetic condition. Most genetic inherited conditions occur when both parents are healthy, but each carries a faulty copy of the same gene. This is more likely to occur if both parents have the same ethnic background, such as Jewish ancestry, but can sometimes occur with parents of different heritage.
The Preconception Genetic Screening Program offers genetic testing to individuals and couples of Jewish ancestry who are thinking about having a baby either soon, or sometime in the future. The results from this testing give you information about the risks of a genetic condition affecting your future children. However in rare circumstances, the results may have some implications for your personal health. The results can help you make important choices about future pregnancies.
Preconception genetic screening can be arranged for eligible individuals by completing the form that follows these information pages.
The Preconception Genetic Screening program gives you two options. Both options use a self-collected saliva or cheek swab sample (depending on the testing you choose).
The Program offers free screening for the most common serious 11 genetic conditions found in the Jewish community
Screening is carried out through NSW Health Pathology
There is no cost if you choose this testing
You may want to know if you are a carrier of over 500 different conditions which are not all especially common in our Jewish community, but are found in different populations around the world. This DOES include all 11 conditions covered in option 1.
Screening is carried out through a US based laboratory called Invitae.
This option costs US$299 for one person and US$225 should your partner also want to be screened at the same time. All costs are paid directly to the Invitae laboratory.
Individual results will be returned via the Preconception Genetics Screening Program.
You can pay to undergo a large panel of over 500 genes that are associated with Autosomal recessive and X-linked conditions. This is through a laboratory called Invitae
The information on the following pages will explain what genetic screening does and how it works. Screening can give you information about the chance that some specific genetic conditions may affect your future children.
The two screening options available through the Preconception Genetic Screening Program are not the same as non-invasive prenatal testing (NIPT) or first trimester combined screening (FTCS). These tests look for evidence of an abnormality in a baby’s chromosomes. They are not carried out prior to conception as are the two screening options available through the Preconception Screening Program. Additionally, NIPT and FTCS are used to detect different chromosomal conditions.
Neither of the two screening options available through the Preconception Genetic Screening Program will give information about cancer related genes. If you want information about genetic testing for cancer related genes see https://www.genetics.wolper.com.au/brca
There are four steps to taking part in the Preconception Genetic Screening Program
1. Click start below and read through the information provided on the following screens. You can always contact us if you need more information. If you decide to go ahead, complete the online form to register and consent to the testing.
2. We will send you the appropriate test kit in the mail. You can easily collect your own sample, which will be either saliva or a cheek swab depending on which test you select.
3. Mail your sample to us using the reply envelope included in your kit. Your sample will be analysed and a report prepared.
4. We will get in touch with you with your result when it is ready. You may receive an email or a phone call from a genetic counsellor to discuss your results.