NIPT is mainly to check for trisomies. You will need to decide whether to also have the sex chromosomes checked for anomalies. This is a separate decision from whether you want to know the gender.

This group covers a variety of conditions ranging from very mild to severe problems. Some can be better managed in childhood if the chromosome anomaly is identified from birth, rather than first diagnosed later in life.

Microdeletion screens are offered at extra cost by some labs and can have more problems with accuracy, both false positives and negatives.

The test only covers the 80% of the most common chromosome defects found in pregnancy. This includes trisomy 21, trisomy 18, trisomy 13 and potentially, abnormalities of the sex chromosomes. It is not designed to pick up mosaicism (where only some cells are affected) or partial chromosome deletions. Although NIPT is called a “fetal” test, it is really predominately placental DNA that is analysed. This is not usually a problem with the common trisomies but requires careful consideration if a sex chromosome anomaly is found. 

Many fetal health problems are not covered by NIPT, so the usual 12/13 week and 19 week ultrasounds are still recommended for structural information.

The main differences in choice of lab are

• Cost In Perth: NIPT costs $395 to $850, with no Medicare rebate.
• Length of time it takes to get a result (usually 1 to 2 weeks) and
• The chance of test failure, varies from <1% to 4%.

At QDOS Ultrasound, we have not aligned with a single lab, so the choice of lab can be tailored for each clinical situation.

Twins – NIPT can be used, and is still a good option even though it does not work quite as well in non-identical twins as in single pregnancy.

These tests are very rapidly developing, please discuss any specific queries with your Doctor or at the ultrasound. For more information, download the pdf below.