Non-Invasive Prenatal Testing

NON-INVASIVE PRENATAL TESTING

There are a number of different providers offering NIPS in South Australia, this testing is often referred to as the Harmony Test, Generation Test or Nest test.

 

Non-invasive prenatal Testing or NIPT refers to a blood screening test for pregnant women that can be used as early as 10 weeks of pregnancy. By evaluating fetal cell-free DNA found in maternal blood, including accurate measurement of the fetal fraction of DNA, the test assesses the probability of trisomy 21 (Down syndrome) and other common fetal aneuploidies. The results are intended for prenatal screening and further diagnostic testing may be recommended. NIPT can now also identify the gender of your baby!

 

WHAT CAN NIPT TEST FOR?

Trisomies

Our cells usually have 23 pairs of chromosomes. Trisomy is the word used to describe the presence of an extra chromosome in the cells. Trisomies are named based on which chromosome has the extra copy, so a person with trisomy 21 has an extra copy of chromosome 21. NIPT looks for trisomy 21 (Down syndrome), trisomy 18 and trisomy 13.

 

Sex Chromosome Aneuploidies (SCA)

Most people have either two X chromosomes or one X and one Y chromosome in their cells. People with a sex chromosome aneuploidy (SCA) have a different number of X and/or Y chromosomes.  NIPT looks for aneuploidies such as:

  • XXY (a cause of Klinefelter syndrome)
  • Monosomy X (a cause of Turner syndrome)

 

22q11.2 Microdeletion

A microdeletion is the absence of a small piece of chromosome and is named by the area of the chromosome that is absent. NIPT testing looks for 22q11.2 microdeletion, the most common genetic cause of intellectual disability and heart defects after Down syndrome.

We routinely discuss Non-Invasive Prenatal Testing before your 10 week visit. To be referred for NIPT test speak to your Obstetrician at your next appointment.