Dr Glenda McLaren
Obstetrician & Gynaecologist

Genetic Testing

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Genetic Screening Before Pregnancy

Awareness and understanding of your and your partner’s genetic makeup before embarking on a pregnancy is important to discuss with your Bloom Obstetrician. Your Bloom OB will assess your family medical history to confirm if expanded genetic screening (sometimes called reproductive carrier screening) is an appropriate option for you and your partner to consider. It is preferable to screen before pregnancy so that prospective parents have time to consider their potential risk and options. 

Inherited Genetic Conditions

There are many inherited genetic conditions that could impact a pregnancy, and most are very rare. However, many couples who have a child with a genetic condition have no family history of the condition and were not aware they had an increased chance of their child inheriting it, as they did not know they were carriers. Carrier screening is therefore important to everyone regardless of whether or not they have a known family history of a genetic condition.

You can learn more about reproductive screening here.

Prenatal Screening for Chromosomal and Genetic Conditions

Tests performed throughout different stages of pregnancy for some genetic conditions is called prenatal screening. These tests can include ultra scans and blood tests and can provide you with more information about your unborn baby. Your OB will talk to you about which tests are important for you to have at each stage of your pregnancy and provide support and information about each.

Why Should I Consider Prenatal Screening

The principle of prenatal screening is to offer a safe test to identify women with an increased chance of having a baby with a chromosomal or genetic condition. Pregnant women with an increased chance are offered genetic counselling and follow up diagnostic testing.

Your Bloom Obstetrician will explain the results of your screening test to you and refer you to a genetic counsellor if required.

Which Conditions can be Screened for Prenatally?

The most common chromosomal cause of intellectual disability in children and adults is Down syndrome. This condition occurs when a baby has three copies of chromosome 21 (trisomy 21), instead of the usual two copies. The chance of a woman having a baby with Down syndromeincreases with her age. Prenatal screening for Down Syndrome is made available to all Australian women.

Other chromosomal conditions that may be screened for with the test. You can learn more about prenatal genetic screening and what conditions are tested for here.

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