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Frequently asked question

optimo screening test

 

Q : What does the optimo test involve?

A : optimo is a screening test done during the first trimester of pregnancy, between 11 weeks + 4 days and 13 weeks + 6 days. It involves:
– A fetal ultrasound
– A maternal blood test
The ultrasound is done to make sure the fetus is growing and thriving and has no malformations. It also measures nuchal translucency.
The blood test screens for serum markers, which are substances present in the mother’s blood that are produced by the developing placenta.
These tests involve no risks for the mother or the fetus.
 

Q : Which conditions does the test screen for?

A : The optimo test is done mainly to screen for trisomies 21, 18 and 13, but it can also detect other conditions:
– By ultrasound: heart defects, neural tube defects, other malformations
– By serum markers: obstetric risk factors
 

Q : How is my risk calculated?

A : The risk of trisomies 21 and 18 is calculated based on:
– the nuchal translucency
– the serum marker results
– the mother’s age
Your result is categorized as low risk (less than 1/2,500), moderate risk (between 1/2,500 and 1/100), and high risk (greater than 1/100). The risk of trisomy 13 is calculated based on whether or not malformations can be seen on the ultrasound and is not assigned a number.
 

Q : How long does it take to get my result?

A : You will receive your result within three business days. If your risk is low, you will be informed by email. A copy of the result will also be sent to your doctor.
 

Q : What happens if my risk is moderate or high?

A : If your risk is greater than 1/2,500, you will be contacted by phone.
If your risk is moderate, you will be offered the Harmony test, a fetal DNA test done on maternal blood. This test is free of charge and the result is available in five business days.
If your risk is high, you can also have the Harmony test done free of charge. However, it is recommended that you talk to your doctor about having an amniocentesis.
 

Q : What is the detection rate with the optimo test?

A : The detection rate for trisomy 21 is 98%.
 

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General information

 

Q: How is optimo different from the tests done at the hospital?

A : Like the test covered by the government, the optimo test includes an ultrasound and a blood test. However, it screens for different serum markers, which explains the differences:
– A better detection rate: The optimo test detects trisomy 21 in 98% of cases, compared to 85% for the government test.
– Earlier results: The optimo test analyzes markers present in the blood during the first trimester, unlike the public test, which requires two separate tests during the first and second trimesters. This means you can have the result earlier in your pregnancy. In addition, the test result is sent directly to you and your doctor. If it’s recommended that you have the Harmony test, it will be done free of charge.
 

Q: The screening test done during my last pregnancy showed a low risk. Do I have to repeat the test?

A: The result of a prenatal screening test applies only for the current pregnancy. It cannot predict the risk of chromosomal abnormalities during future pregnancies.
 

Q: There is a history of hereditary disease in my/my partner’s family. Can the screening test tell me my risk of passing on the disease?

A: The tests only screen for a certain number of conditions. Depending on your situation, you could be referred for further testing. If you have a family history of chromosomal abnormalities or hereditary diseases (cystic fibrosis, myopathy, lactic acidosis, etc.), it is important that you discuss this with your doctor or midwife, who can refer you for genetic counselling, if necessary. Our genetic counsellors would also be pleased to answer your questions.
 

Q: Do I need to be fasting for the blood test?

A: No. You can also take your prenatal vitamins and usual medications.
 

Q: I’m over 35 years old. Should I have the Harmony test by default?

A: No, because the risk calculation for the optimo test takes the mother’s age into account, meaning the test is just as effective on women of all ages.
It is important to know that the older the mother, the more often the calculated risk will be moderate or high, and that the Harmony test will be ordered as a next step.
 

Q: What is the difference between trisomy 21 and trisomy 18?

A: Trisomy 21, also known as Down syndrome, is a genetic disorder that affects one in every 700 babies born in Canada. The condition is associated with various degrees of cognitive impairments as well as other health conditions such as congenital heart defects.
Trisomy 18 or Edwards Syndrome is another genetic disorder associated with severe malformations.
 

Q: What is the significance of the nuchal translucency measurement?

A: An ultrasound can measure the nuchal translucency. This test will assess the amount of fluid behind the neck of the fetus. Babies at risk for a genetic disorder have a tendency of having a higher amount of fluid around the neck.
 

Q: What is preeclampsia?

A: Preeclampsia, a condition that affects pregnant women, is high blood pressure accompanied by protein in the urine. It affects 3-5% of pregnancies (1).
The causes of preeclampsia are controversial, although the mother’s cardiovascular system seems to play a role in the defective placentation characteristic of preeclampsia (2). If left untreated, preeclampsia can lead to major, even fatal, complications for the mother and the baby. Recent studies have shown that taking low doses of aspirin starting in the first trimester helps decrease the symptoms and control the effects of preeclampsia (3, 4).

Q : I am pregnant with twins. What are my options?

A : optimo has not yet been fully validated for twin pregnancies. We therefore recommend first-trimester ultrasound and the Harmony screening test for twin pregnancies.

 

Q : Can optimo be performed if my first trimester ultrasound was done elsewhere?

A : It is possible for us to determine your risk assessment even if your first-trimester ultrasound was performed outside our clinic however test performance may be slightly affected due to differences in measurement techniques. Please bring a copy of your ultrasound report with you at your optimo appointment.

 

Q: My doctor prescribed me the Harmony test. Do I have to do an ultrasound anyway?

A: The Harmony test tracks trisomies 13, 18 and 21 and does not replace the 1st trimester ultrasound. This ultrasound makes it possible, among other things, to make sure that the pregnancy evolves normally and that there is no major malformation. Thus, we recommend that you perform your ultrasound before performing your Harmony screening test.

 

Q: Does ovo prenatal participate in the government program?

A: A: Yes, our technicians can fill out the form needed for the government program. You must bring this form with you to your visit. Some fees may apply.

 

Q: Is the optimo test reimbursed by my private insurance?

A: Most private insurance companies reimburse biochemistry and ultrasound tests. Contact your insurance company to ask about your coverage for prenatal testing.

 
 
 

References

1) Maternal mortality in 2005: estimates developed by WHO, UNICEF, UNIFPA and the World Bank, Geneva, World Health Organization, 2007
2) Kalafat and Thilaganathan. Cardiovascular origins of preeclampsia. Curr Opin Obstet Gyn. 2017; 29(6):383–389
3) O’Gorman N. et al. Study protocol for the randomized controlled trial: combined multimarker screening and randomised patient treatment with ASpirin for evidence based PREeclampsia prevention (ASPRE). BMJ Open 2016;6:e011801
4) O’Gorman N. et al. Multicenter screening for pre-eclampsia by maternal factors and biomarkers at 11-13 weeks’ gestation: comparison with NICE guidelines and ACOG recommendations. Ultrasound Obstet Gynecol. 2017 Jun;49(6):756-760