Family Planning: Carrier Screening

Family planning genetic testing, also known as carrier screening, is a proactive way for couples to understand their chances of passing on certain inherited conditions to their children. It provides valuable information about genetic risks before conception, helping families make informed reproductive decisions and, in some cases, prevent serious health conditions in future generations.

What Is Carrier Screening?

Carrier screening checks whether an individual “carries” a genetic change (mutation) that could cause a condition if passed on to a child. Many people are carriers of genetic conditions without knowing it, because carriers usually do not have any symptoms themselves.

If both partners in a couple are carriers of the same condition, there is a 1 in 4 (25%) chance that their child could inherit two copies of the mutation and be affected by the disorder.

Why Is This Important for Family Planning?

Knowing your carrier status before becoming pregnant allows couples to:

• Understand the risk of passing on serious genetic conditions
• Explore reproductive options such as IVF with genetic testing, sperm/egg donation, or early prenatal diagnosis
• Plan with peace of mind, especially if both partners are not carriers of the same condition

Carrier screening can identify dozens — even hundreds — of inherited conditions, such as:

• Cystic fibrosis
• Spinal muscular atrophy (SMA)
• Tay-Sachs disease
• Beta thalassaemia
• Sickle cell disease

Fanconi anaemia
…and many more, depending on the test panel used.

 Why Do Carrier Screening?

Because you can be a healthy person and still carry a serious genetic condition, carrier screening gives couples powerful knowledge and peace of mind before starting or expanding a family. It’s especially useful when:

• There is a known family history of genetic conditions
• You belong to a population with higher carrier frequencies (e.g. Ashkenazi Jewish, South Asian, Middle Eastern, North African)
• You’re planning a pregnancy or undergoing fertility treatment

What If Both Partners Are Carriers?

If both individuals are carriers of the same condition, they’ll be offered genetic counselling to understand their reproductive options. These may include:

• In-vitro fertilisation (IVF) with pre-implantation genetic testing (PGT-M)
• Using donor sperm or eggs
• Prenatal testing during pregnancy
• Making informed decisions based on risk and family values

Requirements: Blood Sample or Transfer of Whole Genome Data

Sequencing Time: 30 days

Analysis Time: 24 hours