NIPT or Non-Invasive Prenatal Testing is emerging as one of the most popular tests for prenatal screening option for downs syndrome and other common chromosomal abnormalities. No doubt, NIPT is far more sensitive than the traditional double market test or the triple marker test which form a part of the biochemical screening tests. This is the reason many gynecologists are increasingly opting for NIPT as part of their prenatal screening protocols.
Ideally, the recommendation for NIPT should come from the gynecologist or fetal medicine specialist after considering the patient history, biochemical screening, and ultrasound results. Although many patients are also directly choosing NIPT as an additional test to rule out genetic defects and get further assurances. There is little harm in this as long as one is taking guidance from an experienced doctor ideally before or at least after the test.
Many patients are searching for NIPT tests online. However before one jumps to find out NIPT test cost and make a decision based on the price, it is important to understand the differences in the technologies and methodologies in the various NIPT tests available in the market. Remember like every other product, diagnostic tests are also available at different price points, and these differences are not just due to sales, promotions or bargain deals. There are critical differences in the coverage, application, utility, and quality of tests leading to differences in costs and prices. What is important is to choose the appropriate test option based on the patient’s specific condition, history, and circumstances.
Although there are several tests available in the market, HARMONY is one of the oldest and most trusted brands in NIPT market. Here are the reasons why:
1. Excellent Detection Rate: HARMONY NIPT has been found to have a detection rate of 99.5% for trisomy 21 in all the studies published in peer-reviewed journals.
2. SNP Based Methodology : NIPT tests based on SNPs or Single nucleotide polymorphisms are known to have better sensitivity. SNPs are variations found the DNA between genes and can act as biological markers to enable scientists to locate specific regions of the genome.
3. Very High Success Rate : Our own experience of 98.4% successful HARMONY tests at the first attempt has been confirmed in a publication by the study group of Prof. Nicolaides (failure rate for singleton pregnancies, primary 1.7% and 0.7% for repeat samples)
4. Five times lower false-positive rate : In one of the largest studies on NIPT performed till date, a comparison was made between HARMONY NIPT Test and First Trimester Screening data of 18,955 normal-risk pregnancies in 35 centers in the USA, Canada, and Europe. The false-positive rate in HARMONY NIPT Test was found to be as low as 0.6%, which was five times lower than the false positive rate found for a comparable study on the rMPS method.
5. Validated for twin pregnancies : Most of the NIPT options available today are meant for singleton pregnancies. Twin pregnancy means additional complications as there would be DNA from two fetuses floating in the maternal blood in varied proportions. The fetal fraction requirement would also vary. Validating such cases is a difficult proposition, both scientifically and practically in terms of arranging enough number of samples and correlating their results. HARMONY is one of the few NIPT tests which have been validated for twin pregnancies.
6. Validated for IVF pregnancies and donor eggs : There is an increasing trend of infertility across age groups and many couples are achieving pregnancy through assisted reproduction techniques like IVF. There are several cases of donor eggs, donor sperm or surrogacy. No other NIPT option is available for such patients. Thankfully, HARMONY provides a noninvasive method for checking of common genetic abnormalities for such precious pregnancies.
7. Highly reviewed and published : HARMONY has the advantage of being the most studied, reviewed and published NIPT in the world. It has been demonstrated in studies involving more than 148,000 women in more than 48 peer-reviewed publications. This makes it to be the most proven NIPT option
8. Performed by specialist : HARMONY NIPT is based on the proprietary DANSR assay and FORTE algorithm have been studied extensively with consistently superior results in both high-risk and average-risk populations. The Harmony test consists of the CE-marked Harmony IVD Kit and AcfS Software (which includes the FORTE algorithm). It is performed in sophisticated laboratory setups and managed by specialists with significant experiences and training in the field.
References:Bevilacqua E, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol. 2014 Oct 9
Bianchi DW et al. DNA sequencing versus standard prenatal aneuploidy screening. N Eng J Med. 2014 Aug 7; 371(6):578
