Genetic Testing in Pregnancy

Dr. Barra O'Briain, MD, discusses genetic testing for pregnancy.

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Dr. Barra O'Briain, MD, discusses genetic testing for pregnancy.
Video transcript

Featuring Dr. Barra O'Briain, MD

Duration: 2 minutes, 52 seconds

Genetic screening is offered to all women in their pregnancies.

It's not necessary for them to have this but it is offered in their pregnancies. What the purpose of genetic screening is to see what the risk is for the woman to have a baby with an abnormal chromosomal pattern.

It doesn't tell you whether you have that pattern or not, it just tells you what is the numerical risk based on blood tests, on ultrasounds, looking for nuchal translucency, and/or nasal bones in some of the cases.

So all these tools are used to determine what is your numerical risk and if your risk is high, the next step would be to offer you an amniocentesis.

And the amniocentesis is a very specific test where we take a teaspoon or a little bit more than that of the baby's amniotic fluid and analyze the cells to see if the cells are abnormal in their chromosomal pattern and chromosomal number. And if that is the case then termination of pregnancy is offered to that woman and her partner.

The other test that can be done if there is an abnormal genetic screening is a chorionic villus sampling, which is where we take a small sample of the placenta, the villus of the placenta, and analyze the cells in that villus or that sampling and again we can determine the number of chromosomes and determine if there's a chromosomal abnormality using this test as well.

Chromosomal testing, whether it's for you and your partner to undertake in the pregnancy is a very personal decision, and it's one that's done in consultation with your caregiver.

So if you have any further questions contact your midwife, family physician, or obstetrician and discuss this further with them.

Presenter: Dr. Barra O'Briain, Family Doctor, Vancouver, BC

Local Practitioners: Family Doctor

This content is for informational purposes only, and is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified healthcare professional with any questions you may have regarding a medical condition.

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