optimo is an expanded contingent prenatal screening test designed to assess the risk of your baby being affected by trisomies 21 and 18. The innovative test design combines the advantages of an expanded first-trimester screening with a maternal blood fetal DNA screening test to provide you with highly accurate results early in your pregnancy.
The optimo test indicates the fetus’s risk of having trisomies 18 and 21. The detection rate for trisomy 21 is 98%. This risk is calculated based on the mother’s age, certain ultrasound parameters, and certain hormones and proteins measured in the mother’s blood.
The test involves an ultrasound and a blood test done during the first trimester (between 11 and 4/7 weeks and 13 and 6/7 weeks of pregnancy). During the ultrasound, the practitioner will measure nuchal translucency and check for the presence of the nasal bone, elements that will be factored into the risk calculation. The blood test measures the levels of certain hormones and proteins produced by the baby and the placenta, called serum markers, which will also be included in the risk calculation.
The expanded optimo test includes more serum markers than other prenatal screening tests currently available on the market. In fact, studies (Nicolaides et al., 2013; Huang et al., 2015) have shown that measuring maternal blood concentrations of AFP and PlGF during the first trimester in addition to the standard markers (PAPP-A, bhCG, nuchal translucency) increases the trisomy 21 detection rate and decreases the false positive rate.
Its expanded contingent approach involving fetal DNA screening is the method currently recommended by most major medical associations and colleges worldwide. Several studies have proven that this approach detects trisomies earlier during the pregnancy and decreases the number of patients who require invasive prenatal testing, since the detection and false positive rates are improved (Nicolaides et al., 2013). This approach also retains the benefits of the first-trimester ultrasound and serum markers in terms of dating the pregnancy, and detecting major malformations and certain obstetric complications associated with the serum markers (Nicolaides et al., 2013).
The optimo test cannot be performed on twin pregnancies. A fetal DNA screening test will be recommended in these cases.
The risk may be low, moderate, or high during the first stage of the optimo prenatal screening test, which consists of the first-trimester ultrasound and blood test. If the risk is low, the screening will end at this stage. If the risk is moderate, a prenatal screening test for fetal DNA in maternal blood will be recommended and is offered free of charge to the patient. In cases where the risk is high, follow-up is done with the referring physician, who may then recommend a prenatal screening test for fetal DNA in maternal blood or prenatal diagnostic testing, depending on the results. In cases where the patient and the doctor opt for a prenatal screening test for fetal DNA in maternal blood, the latter will be offered free of charge to the patient. If the patient and doctor decide to continue with prenatal diagnostic testing (amniocentesis), a FISH test done on the amniotic fluid will be offered free of charge to the patient.
In some cases, an invasive prenatal screening test may be strongly recommended and preferable to a fetal DNA test. This may be the case when the factors assessed are associated with chromosomal abnormalities other than those detectable by a fetal DNA test.
You will receive your optimo test result by email within 3 to 5 business days. A copy of the results will be sent to your doctor.