Planning for a Baby and During a Pregnancy

About Carrier Screening

Today we know about over 7,000 genetic diseases, affecting about 1 in 100 pregnancies. Sadly, many of these lead to miscarriage, birth defects, early death or disability. Some are very rare but some of the most common diseases are caused by just one single gene defect, for example hereditary hearing loss, sickle cell anaemia and thalassaemia.

Most people don’t know they are ‘carriers’ for these genetic diseases and so, each year, parents are devastated when their child is born with a serious and life-threatening genetic disorder. Often there have been no previously affected family members. Carriers can be completely healthy individuals who, nevertheless, have a mutant version of a critical gene.

Screening tests are available to see if you and/or your partner are a carrier. If the results show that both prospective parents are carriers of a condition, there are several options:

  • you could choose to have IVF and screen your embryos so that only healthy ones are implanted in the womb
  • you could have genetic testing during pregnancy
  • you could think again about pregnancy and some people then decide that adoption is the best choice for them
  • you could have newborn testing after baby is born

Testing is a very personal choice and our experts will help you decide whether it is right for you. Being armed with all the facts can support you to make informed choices about trying to conceive (or not), testing during pregnancy and how your pregnancy will be managed.

About the Horizon Test

Understanding what carrier screening is and how it works can help determine whether it is appropriate for you and your partner.

Everyone has two copies of 23 chromosomes — one set from your mother and one from your father for a total of 46. However, sometimes these genes can be abnormal. If you have one normal chromosome and a mutated counterpart, you are considered a “carrier.” If two carriers with the same mutation have a baby, they may pass on a genetic disorder. These types of disorders are called recessive conditions. A carrier screening panel can reveal if you and/or your partner are carriers of the same recessive disease traits.

The Horizon Test checks for up to 274 recessive and X-linked conditions that you could unknowingly pass on to a baby.

Visit the Natera Website to read the list of conditions

The Horizon Test offers:

  • complimentary pre-and post-test genetic information and counselling
  • next-generation sequencing—the latest technology—to provide better detection rates
  • patient-friendly reports, fact sheets, and videos to help you understand your results
  • a choice of 3 carrier screening panels (see below)

Horizon 4 Panel (Cystic Fibrosis, Fragile-X, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy

Horizon 106 Panel (comprehensive screen suitable for patients with Ashkenazi and Sephardic ancestry)

Horizon 274 Panel (pan-ethnic extended panel)