Non Invasive Prenatal Test (NIPT)

Non Invasive Prenatal Test (Harmony Test) is a DNA test on maternal blood to screen for the most common fetal chromosome anomalies: Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome).

–     Trisomy 21 is the most common trisomy at the time of birth. Also called Down Syndrome, it is associated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations.

–     Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome) are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects.

This test can be requested for any singleton or twin pregnancy, including those conceived naturally or by IVF using the patient’s own egg or a donor egg. Please note, however, that sex chromosome (X and Y) analysis is not available for twin pregnancies. The test can be ordered for women with pregnancies of at least 10 weeks’ gestational age.

Although NIPT can be performed in every pregnancy, it is especially indicated:

–     If the triple test or first trimester screening indicates an increased risk for Down Syndrome, Trisomy 18 or Trisomy 13.

–     Advanced maternal age.

The testing is non invasive: it involves taking a blood sample from the mother. The pregnancy is not put at risk of miscarriage, or from other adverse outcomes that are associated with invasive testing procedures such as amniocentesis. Once the mother decides to have the test performed, she will be asked to sign a consent form and her blood sample can be taken from a vein in her arm.

Clinical studies have shown NIPT has exceptional accuracy for assessing fetal trisomy risk. A high risk result is indicative of a high risk for a trisomy. The test identifies in singleton pregnancies more than 99% of fetuses with Trisomy 21, 98% of fetuses with Trisomy 18, and 80% of fetuses with Trisomy 13, and 96% of fetuses with Turner Syndrome. X and Y analysis provides >99% accuracy for fetal sex.

The results will be ready in approximately in 1 week.

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