The Advantages of NIPT (Non-Invasive Prenatal Testing) provided by Genpharm

In Clinical Development, Whitepapers by Freya Smale


As a follow-up to yesterday’s post introducing NIPT, below is a summary of the advantages of this method of testing.

Download yesterday’s and today’s post as a Whitepaper here >

The Advantages of NIPT (Non-Invasive Prenatal Testing)

Non-Invasive Prenatal Testing, otherwise known as NIPT, is a new method of prenatal testing without harming the fetus and the mother. These tests can assess the presence of fetal trisomies in a pregnancy as early as 10 weeks. Since this method of testing is safe and highly accurate, many are opting to use NIPT over other invasive procedures like amniocentesis.

Pregnant women who can largely benefit from this type of testing are those who are over 35 years of age, those who have an ultrasound that shows increased risk of aneuploidy, those with a pregnancy history of trisomy, and thise who have had a positive serum test for aneuploidy. NIPT examines circulating cell free fetal DNA in the mother’s blood. This new method of testing is a new option in the testing paradigm for identifying fetal aneuploidies.

This cell free DNA comes from the mother’s placenta and is in her blood for a few hours. This testing can be done much earlier than the invasive procedures, making it a great tool for identifying conditions like Down’s syndrome. The results can take up to ten days to weeks.

Statistics show that NIPT has not been associated with miscarriages or had any adverse side effects that could harm the unborn baby since it is only a simple blood test. While it is not a part of routine assessments currently preformed on pregnant women, it is a viable option for a mother who is at high risk for trisomy. Currently, there are several companies providing NIPT kits. Of the growing list, the first and most popular is Prenatest from Lifecodexx, Germany.

These tests are replacing risky procedures, like amniocentesis, and still giving the patients and doctor the answer they need. The test can show abnormalities such as:

· Edward’s syndrome- Trisomy 18

· Patau syndrome- Trisomy 13

· Down syndrome- Trisomy 21

The two most common forms of testing high rate pregnancies are amniocentesis and chorionic villus sampling. These both involve sticking a needle into the amniotic sac and withdrawing DNA samples. While these tests have received rave reviews for their spot on accuracy, they do carry a danger of a woman losing the child to miscarriage. While the chance is slim, it is a chance that most mothers are not willing to take. Using NIPT, a mother can feel safe about these testing procedures, as it is just a simple blood draw. The new tests are used to help promote healthy pregnancies and to know whether there is a serious problem in advance.

While these tests are non-invasive and highly effective, it still remains to be seen whether it will replace the industry standard amniocentesis. Like most procedures, they need to be out on the market a while before the public and physicians can comfortably use them. However; with the chance of miscarriage off the table, it is likely that these testing methods will become the choice test for high risk pregnancies.

This article was contributed by Genpharm Services, a leading pharmaceutical marketing firm offering full market access services into the MENA region for specialty, rare disease, orphan drugs & biotech companies. Find out more about Genpharm at

The World Orphan Drug Congress team is delighted to welcome Genpharm as a sponsor to the 2013 event, taking place in November! Find out more about this event here >