NIPT- is a highly sensitive screening method for the common *trisomies (21- Downs, and 18 and 13) which has been positively embraced widely in early patient obstetric care both in North America and abroad, particularly when combined with **nuchal translucency
Based on a maternal blood sample taken around 10.5 weeks, the test is reliant on the screening of fetal DNA found in the maternal blood stream providing a fetal fraction of at least 4% is ascertained.
Grace Fertility Centre continues to offer prenatal screening with NIPT (Harmony) as part of the post conception care as test results are available before the end of the first trimester. Traditionally such screening has focused on high risk pregnancies, which includes those using assisted reproduction but this may need to change to include all pregnancies since the greater number of Down’s Syndrome babies are from mothers under 35 years which just reflects the greater birth rates in this age group. NIPT has been shown to greatly reduce the need for invasive prenatal testing (amniocentesis)
NIPT (Harmony) represents the single best screening test for trisomy 21 Down’s and also 18 and 13 at this time but how this will be incorporated into general covered antenatal care going forward is unknown. At this time it is patient financed. Although NIPT was initially introduced to screen for common trisomies in high risk women it is found to be of high efficacy in low risk groups as well.
*Definition of Trisomy:
The state of a cell or individual that has three chromosomes instead of two for a given pair. There are three more common kinds of trisomy: trisomy 13 (Patau syndrome), trisomy 18 (Edward syndrome) and trisomy 21 (Down syndrome).
**Definition of Nuchal translucency test:
The nuchal translucency test measures the nuchal fold thickness. This is an area of tissue at the back of an unborn baby's neck. Measuring this thickness helps assess the risk of Down syndrome and other genetic problems in the baby.