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  • Pregnancy

Tests in pregnancy

There are many tests including ultrasounds, screening for gestational diabetes as well as other tests for both you and your baby.

Rationale for genetic screening

The goal of pre-pregnancy screening is to let women and couples know if they at increased risk of having a child with a common genetic condition that will have an impact on their child/children. If a carrier status is confirmed then some couples may choose to undergo an invasive diagnostic procedure during pregnancy to determine whether their baby is affected. Being informed about their baby’s positive carrier status may prepare women and couples for the future or in some cases they may make the heart breaking decision to terminate the pregnancy.

Prior to commencing IVF treatment genetic screening also allows women and couples to determine whether they wish to have the embryos screened so that an embryo is transferred without the affected gene; a procedure known aspreimplantation genetic diagnosis (PGD). Others still may choose to utilise donor sperm or find a suitable egg donor.

In pregnancy the test is done so that women are better informed about their pregnancy.

Why Dr Joe

Across the nine months of pregnancy, you and your baby will be monitored with various tests to ensure your safety and the healthy development of your baby.

From ultrasounds through to testing for gestational diabetes, you can read all about the investigations in pregnancy here.

On this page

Investigations in pregnancy

Genetic screening

I offer genetic screening – but you may ask why do it?

There are many reasons – The goal of pre-pregnancy screening is to let women and couples know if they at increased risk of having a child with a common genetic condition that will have an impact on their child/children.

The advent of genetic carrier screening provides women and couples further information in the pre-pregnancy and early pregnancy period. This can be confusing for women and couples and compound the feeling of being overwhelmed prior to conceiving, commencing IVF treatment or when pregnant.

Who should be screened?

There are no strict guidelines. Certainly if there is a family history of a genetically linked condition then the woman +/- male partner/donor should be screened. However with no family history many couples are offered genetic screening especially when they are seeking fertility treatment. It must be pointed out that for some women and couples the knowledge gives them important information about future pregnancies and aids in decision making, while for others it provokes prolonged and significant anxiety.

Common pre-pregnancy genetic screening

Screening can be done for couples with a family history of a specific genetic condition or in a population of people where genetic disorders are common e.g. Ashkenazi Jewish people. For other people with no specific indication there are three commercially available genetic screening tests that I will discuss with you.

These included Cystic Fibrosis (CF), Fragile X (FX) and Spinal Muscular Atrophy (SMA). Many people are carriers of CF, FX or SMA even though they do not have anybody in their family who has the condition.

Screening tests can detect 90% of people who are carriers of CF, 95% of people who are carriers of SMA and over 99% of people who are carriers of FX. It’s important to note that the test is not 100% accurate.

What do I do if I’m a carrier?

I will offer you genetic counselling so that you can make an informed decision regarding your current or future pregnancies. You may choose to continue trying to conceive and do nothing, undertake further tests on your baby or undertake IVF and preimplantation genetic screening.

You may wish to provide this useful information to relatives so they could also be screened.

I often tell patients these screening tests are useful only if you wish to act on the results or be better informed about your pregnancy. If this something you don’t require prior to pregnancy then you don’t need to do anything.

 

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