What is nuchal translucency, prenatal screening?

The purpose of prenatal screening is to determine, through a combination of ultrasound and blood sampling, the risk of carrying a fetus that may have one of the most common chromosomal abnormalities observed at birth, particularly Down syndrome (trisomy 21).

The radiologist or technologist performs the ultrasound examination in the first trimester of pregnancy. This component includes measuring the nuchal translucency (the subcutaneous space between the skin and the cervical spine of the fetus) as well as the nasal bone when possible.

The objective of the session is foremost to verify the absence of severe congenital anomalies in the fetus. It’s also an opportunity for you to get a glimpse of your future baby in action! You will see the fetus as a whole: its body, its four limbs and its face in profile. At the same time, you will hear his heart and even leave with some pictures!

However, note that this test does not always enable us to see the sex of the fetus. In fact, it will all depend on how he is positioned in the womb. Instead, it is during anatomy scan of the 20-week ultrasound that we will be able to confirm the sex with a high degree of certainty if you so request.

Blood samples come in two possible forms: OPTIMO and HARMONY

OPTIMO

This extensive prenatal screening test allows the risk of trisomy 18 and 21 to be assessed in the fetus. The OPTIMO test detects trisomy 21 more accurately than with the screening techniques currently available in the public healthcare system. Another major benefit is that OPTIMO provides a risk assessment much earlier in pregnancy.

OPTIMO in a nutshell:

1- An early test during your pregnancy: In the first trimester between 11 weeks and 4 days, and 13 weeks and 6 days.

2- A non-invasive test: A simple blood test that is safe for the mother and her fetus.

3- Increased reliability: 98% detection rate for trisomy 21.

4- A timely service: We communicate you the result within 3 to 4 working days, and a detailed report will be sent to your doctor.

5- A team of genetic specialists: We are available to answer your questions about your results and prenatal tests.

HARMONY

This non-invasive prenatal test detects trisomy 13, 18 and 21 as well as anomalies of the sex chromosomes in the fetus. The HARMONY test consists of analyzing the DNA of the placenta as well as that of the mother from a blood sample taken from the mother during pregnancy.

By analyzing sex chromosomes, the HARMONY test provides us with information about the sex of the fetus with a 99% accuracy level.

1- An early test: from the 10th week of pregnancy: We recommend performing a dating ultrasound beforehand.

2- A non-invasive test: A simple blood test that is safe for the mother and her fetus.

3- Increased reliability: A detection rate higher than 99% for trisomy 21, and it gives estimates for trisomy 13 and 18 and sex chromosome anomalies

4- A timely service: We communicate you the result within 5 to 6 working days, and a detailed report will be sent to your doctor.

5- A team of genetic specialists: We are available to answer your questions about your results and prenatal tests.

6- Fetal sex determination with a 99% accuracy level. Note that HARMONY is a screening test and not a diagnosis. If the test result indicates a high risk of trisomy, we will recommend taking another test using an invasive diagnostic technique (chorionic biopsy or amniocentesis) to validate the presence of anomalies. In the case of a low-risk result, it is recommended to wait for the 20-week morphological ultrasound for a confirmation that no further testing will be required.