Preconception Carrier Screening
Preconception carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general populations.
- Safe: test from just peripheral blood or blood spot card
- Cost effective: screen for multiple diseases with high accuracy
- Flexible: comprehensive or targeted panel options available
Next Generation Sequencing (NGS) technology is used to analyse exons in different genes, as well as selected in-tergenic and intronic regions. These regions are sequenced with high coverage and compared to the normal variation standards and reference database.
Who should consider Preconception Carrier Screening?
- Individuals or couples who want to know more about their genetic status in order to make more informed reproductive decisions.
- Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes.
- People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases.
- Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy
What is covered by the screening?
Preconception Carrier Screen detects over 9,000 mutations across 148 genes, for more than 150 genetic disorders.
Our carrier Screening covers most common disease such as:
- Duchenne Muscular Dystrophy – the most common form of muscular dystrophy affecting children.
- Wilson disease – Worldwide 1 in 30,000 people have Wilson disease.
- Cystic fibrosis – one of the most common deadly inherited disorder among Caucasians.
- Spinal Muscular Atrophy – 1 in 50 people found to be a carrier of this disease.
- Glycogen Storage Disease– The most comprehensive coverage for all types of pomp disease.
For a full list of genes and disorders covered, please see this document.
Why have Preconception Carrier Screening?
Preconception Carrier Screening can be ordered before or during pregnancy and is ideally suited for couples who want to learn about their genetic status, so that they can make more informed reproductive decisions. Carrier screening prior to pregnancy enables couples to learn about their reproductive risk and consider a complete range of reproductive options, including whether or not to become pregnant, whether to use advanced reproductive technologies, such as preimplantation genetic diagnosis, or use donor gametes. Screening also allows couples to consider prenatal diagnosis and pregnancy management options in the event of an affected fetus.
Whilst individually each disease tested is rare, around 25% of people will carry at least one abnormal mutation. These disorders are usually autosomal recessive, which means that a child must inherit a defective gene from each parent to have the disease. For autosomal recessive conditions, if a person is a carrier of the disease, they have one defective copy of the gene and one normal copy and typically don’t have any symptoms of the disease. If both you and your partner are carriers of an autosomal recessive disorder, your child will have a 1 in 4 chance of inheriting one defective gene from each of you and being born with the disease.
Preconception screening is not routinely offered and may only be discussed if there is a risk factor, such as a family history or if a person belongs to a specific ethic group associated with an increased risk. However, most people don’t know they may be at increased risk so there is no easy way of determining who is at an increased risk of being a carrier for any specific gene mutation. The best approach is to have preconception screening before you try to conceive. This test enables screening for a wide range of inherited diseases (expanded carrier screening), however, it does not cover every possible inherited disease. If preconception screening identifies you and your partner are both carriers for a condition, you will be able to consider a wider range of options.
What is the Cost of Preconception Carrier Screening?
Please enquire directly to discuss the cost of our preconception carrier screening.
To read our Prenatal Test Specific Terms and Conditions, please CLICK HERE