The media was flooded yesterday with feature articles, TV and radio segments discussing genetic testing for Fragile X syndrome – highlighting the start of Fragile X awareness month. Fragile X is the most common cause of inherited intellectual disability, and is one of the known genetic factors causing autism in some children. Historically, testing for Fragile X syndrome was only conducted to diagnose a child with Fragile X, or when somebody has a family history of Fragile X syndrome. This needs to change.
Fragile X experts, such as our medical director, Dr Jonathan Cohen, are now recommending that Fragile X carrier testing be offered to all women before or in early pregnancy.
Approximately 1 in 250 women are carriers of Fragile X and may not know it. Being a carrier for Fragile X syndrome can also cause medical problems in the carrier, such as early menopause. The most significant impact, however, is when this gene is passed down to the next generation. Carriers could have a child with a spectrum of symptoms including intellectual disability and significant behavioural and emotional challenges. Finding out before pregnancy enables couples to consider options such as genetic screening of embryos in the IVF setting, called pre-implantation genetic diagnosis. Some may choose to test for Fragile X syndrome during pregnancy, and terminate the pregnancy if affected. Others may use the information to help prepare for a child with additional needs, and promptly access appropriate treatments and early interventions to help their child.
While this may be a very challenging topic to discuss, it is important. Critics may say we are promoting designer babies, however we do not force certain beliefs or choices be made. We believe it is every couples’ right to access the information they need about genetic carrier screening so they can make an informed decision that is right for them. The issue here is about free choice and access to accurate information in a supportive environment.
Guidelines for doctors need to change to ensure all patients are given enough information about this important topic.
Currently most doctors do not recommend or even discuss genetic carrier screening as an optional test for pregnancy preparation, however most babies born with genetic conditions are to parents who had no idea they were carriers. Many express openly how they wish they were offered genetic testing before starting their family.
Couples with no family history of genetic conditions are the ones who should be offered testing, as they often end up shocked, trying to deal with a potentially devastating diagnosis in their child.
DNA testing for Fragile X syndrome can be done easily and efficiently these days, with non-invasive options such as saliva and cheek brush samples. Testing for Fragile X syndrome can be done alone, or in conjunction with other common genetic conditions. A recent study done by the Murdoch Institute illustrates that testing is supported and welcomed by women both before and during pregnancy, with no adverse effects of testing when offered in conjunction with supportive genetic counselling both before and after testing. This study provides compelling evidence that all women should at least be given the option of this genetic test.
See a few of the many articles and media releases around this very important topic here:
Pregnant women may be screened for condition that causes autism in babies, Channel 9 News, 31st July 2017 – Video
Contact us now for an appointment to find out more about how we can help you achieve your dreams of a healthy future family.
What is Fragile X syndrome (Fragile X Association of Australia video)?
What is Preconception Carrier Screening (also called pre-pregnancy carrier screening)?
What is Genetic Counselling?
What is Genetic Testing?