Non Invasive Prenatal Test - NIPT (after 10 weeks gestation) 

Non invasive prenatal testing - NIPT - analyses cell-free DNA circulating in the pregnant mother's blood.

It is a new option in prenatal screening for Down Syndrome (trisomy 21) and other common chromosonal conditions (trisomy 18 and 13).  The pregnancy is not put at risk of miscarriage.

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

 

NIPT - HARMONY PRENATAL TESTING

Patients attending Consultants at the Womens Health Group can avail of Non-Invasive Prenatal Testing (NIPT). This is a simple blood test that can be done on or after 10 weeks of gestation. As it is a simple blood test it confers no risk to the baby. The test is highly accurate and the results are available within 2 working weeks.

In brief, the test captures DNA from the fetus which circulates in the mother’s blood to give the most accurate screening approach in estimating the risk of a fetus having a common chromosome condition sometimes called a trisomy. This occurs when there are three copies of a particular chromosome instead of the expected two. The Harmony Prenatal or NIPT test looks to detect the following trisomies:

  • Trisomy 21
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Sex chromosome conditions

CHROMOSOMAL DISORDERS

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 and 13 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. Most affected individuals die before or soon after birth, and very few survive beyond the first year of life.

The sex chromosomes (X and Y) determine whether we are male or female. X and Y chromosome conditions occur when there is a missing, extra, or incomplete copy of one of the sex chromosomes. The Harmony with X, Y test can assess risk for XXX, XYY, XXYY, XXY (Klinefelter syndrome), and a missing X chromosome in a girl (Turner syndrome). There is significant variability in the severity of these conditions, but most individuals have mild, if any, physical or behavioural features. If the mother is interested in having this optional testing, she should talk with her healthcare provider to determine if it is right for her.