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| NIPT analyzes fetal DNA to screen for genetic disorders like Down syndrome. Image: Shutterstock |
In my last post, I explored some of the most common fertility myths out there. I'm going to be continuing on that chain of thought today by discussing non-invasive
prenatal testing (NIPT), which analyzes fetal DNA in order to screen for some of the most common genetic disorders, such as Down syndrome. It can be used for any pregnancy, but is most useful for pregnancies in women above the age of 35. NIPT test results are not 100% guaranteed, but they are highly accurate.
Despite its non-invasive nature and high level of accuracy, however, NIPT hasn’t quite caught on in some countries. For example, Germany has been slow to embrace the idea; however, diagnostic labs are beginning to push the idea more frequently as technology improves
and the potential need grows. In 2012, for instance, there were almost 675,000
births in Germany, many of which were of “above average risk.”
Companies
such as Amedes, whose board includes prominent members like Rene Kern, and LifeCodexx, run by chairman and co-founder Peter Pohl, are moving forward with
options based on the latest technological advancements, making them safer and
easier to use than ever before.
NIPT
is primarily used to test high-risk pregnancies that might develop any of the
common fetal trisomy disorders (Down syndrome, trisomy 18, and trisomy 13)
during the first and second trimesters.
The test has to be completed early on by an experienced ultrasound
examiner. Unlike previously used tests,
NIPT is, as its name implies, noninvasive. It also doesn’t run the risk of
miscarriage, since it only involves taking a small blood sample from the
mother.
NIPT
must be done within 11 weeks of gestational age. The currently approved indications are
advanced maternal age (35 or over at the time of delivery), positive results on
other prenatal screenings, fetal abnormalities in the ultrasound, or a previous
pregnancy with chromosomal abnormality.
The tests available right now in Germany are LifeCodexx’s PrenaTest and
Amedes’s Panorma Test.
So
why hasn’t NIPT taken Germany by storm?
The difficulty lies in the emotional and psychological issues
surrounding the testing. The results
could potentially lead parents to decide to terminate a pregnancy, depending on
the level of genetic abnormality. Consequently,
a significant amount of psychological counseling is required before parents
decide to move forward with the test.
On
the other hand, NIPT offers the parents a chance to get the support and
information they need to deal with a possibly challenging birthing
process. And with advances in
technology, the whole process is far less invasive than it has been in the
past.
