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Prenatal Screening

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Learning that you’re pregnant ushers in a mixed bag of emotions – excitement, hope and fear of having a baby who’s not healthy. Certain tests can rule out the possibility of some genetic conditions in your baby. The choice to do these tests and which tests to do is entirely up to you and your partner.

There’s a three per cent risk of an abnormality in baby no matter what. Tests can show your risk of having a baby with a certain condition but cannot categorically tell you whether or not that condition exists. Some conditions cannot be diagnosed before delivery. In considering any test, think about why you’re doing it. Would you end the pregnancy? Would you want to be prepared?

An ultrasound at 18 to 20 weeks is offered to all pregnant women. It can rule out major abnormalities in organs. A combination of blood tests and findings on an ultrasound look for the CHANCE that baby might have Down’s syndrome or several other genetic abnormalities. Three tests are available: the integrated prenatal screen, the first trimester screen and the second trimester screen.

The newest test is the non-invasive prenatal screen – a blood test looking for baby’s DNA in mom’s blood. It’s shown great promise and is more accurate in finding these genetic disorders. It’s covered for women considered high risk (women older than 40 or with a previous baby with one of these genetic disorders or a family history of Down’s). You can choose to do this at a cost of $500 to $800.

The gold standard is amniocentesis, which involves taking fluid from around baby to look at baby’s genes. This test requires a needle to be inserted into the womb and can risk harm to baby or miscarriage. It’s reserved only for those at high risk.

The choice is yours.

Dr. Bhooma Bhayana is a family physician in London and the mother of two young men and grandmother of one lovely princess! She continues to find wonder and enjoyment in family practice despite more than 30 years on the job!


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