Friday, April 3, 2015

Non-Invasive Prenatal Testing Slow to Catch on in German

NIPT screens for genetic disorders like Down syndrome using fetal DNA within the mother's bloodstream
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.