Pre-Pregnancy Planning.

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Our children inherit our eye colour, our ‘funny toe’, and our ‘quirky smile’. We often remark how our children look more like one parent than the other.

Our children can also inherit any genetic conditions that we know are present in the family, or those we may not realize we carry. At Private Genetic Health, we identify risk factors that may increase your chance of having a child with a genetic health difficulty, and can investigate prior to, or even during, the early stages of a pregnancy.

Why Investigate? 

Getting screened before you try to become pregnant can give you the reassurance that you are not a carrier of some autosomal recessive conditions.  If you are both found to be a carrier of the same recessive condition, or have a condition which is inherited in an autosomal dominant fashion then you can:

  • Be prepared for what it means to have a baby with the genetic condition
  • Choose to learn about certain prenatal tests to check whether your baby is affected, or
  • You can consider other options like egg or sperm donation or adoption.

The goal of genetic counseling is not only risk assessment, but also to explain cause/inheritance of a genetic condition, availability of testing, prognosis, medical management, treatment and options. Genetic counseling sessions typically last one hour, or longer, depending on the complexity of the case.

Pre-pregnancy Carrier Screening.

Pre-pregnancy carrier screening allows you to better understand your chance of having a child with a recessive genetic disorder. It involves detecting the carrier status of recessive diseases in couples who may have no, or little, genetic disease in the family.

Pre-pregnancy carrier screening aims to facilitate informed decision making among couples.  In the past,carrier screening was only offered for a few life-liming conditions with high carrier frequency in certain populations. We newer genetic technologies, we are able to expand the screening program to multiple conditions and allows us to test couples, regardless of ancestry or geographical origin.

Most people carry approximately 3-5 variances with the potential to cause disease, however are unaware of their carrier status unless they already have an affected child.

Pre-pregnancy carrier testing allows parents to determine the likelihood that their child may be affected by genetic disease, be informed of its implications and to make plans as required for the future.

Further Considerations

Whilst genetic testing is important in pre-pregnancy planning, there are multiple other factors that can impact the health of your baby including diet and exposure to certain chemicals. Speak to your GP or specialist for comprehensive information.

Other resources:

If a couple are not actively using contraception to avoid a pregnancy, then they should be actively working towards a healthy pregnancy start. Before becoming pregnant it is important to be as healthy as you can be. A healthy body and lifestyle means a healthier start for you and your baby. Mothersafe is a NSW-based free comprehensive counselling service for women and their healthcare providers concerned about exposures during pregnancy and breastfeeding. service, based at the Royal Hospital for Women, Randwick.

The website has some good factsheets,’ Planning For a Healthy Pregnancy’, and ‘ Paternal exposure’ for the men who want to increase their fertility. Take a look around the website and share the knowledge.