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, cystic fibrosis, 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. As an example 1:25 people in the UK are carriers for Cystic Fibrosis. 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.