Cost-effective prenatal testing spectrum

Recent­ly, Eluthia intro­duced its new non-inva­sive pre­na­tal test­ing spec­trum, which com­bines opti­mized test­ing pro­ce­dures with very afford­able prices.

The NIPT Clas­sic has been opti­mized for test­ing for tri­somies 21, 18 and 13. The test now costs just EUR 179, which is around EUR 50 cheap­er than oth­er non-inva­sive pre­na­tal screen­ing tests (NIPTs) that test for these three trisomies.

The range of tests has been opti­mized specif­i­cal­ly for cou­ples who want more advanced test­ing, such as that for sex chro­mo­somes or microdele­tions (par­tic­u­lar­ly the 22q11.2 microdele­tion, DiGe­orge syn­drome). The test can also pro­vide more infor­ma­tion than oth­er tests for cou­ples preg­nant with twins. Start­ing at just EUR 299, the patent­ed SNP tech­nol­o­gy enables an enor­mous leap in qual­i­ty for these questions.

For the first time, it enables non-inva­sive pre­na­tal test­ing for the clin­i­cal­ly high­ly rel­e­vant sin­gle gene dis­or­ders cys­tic fibro­sis, spinal mus­cu­lar atro­phy (SMA), sick­le cell dis­ease and the tha­lassemias. One in 225 cou­ples in Ger­many car­ries the genet­ic pre­dis­po­si­tions that cause one of these dis­eases in 25% of their chil­dren. The pan­el now costs only EUR 449.

Underlying technologies of the tests

The NIPT Clas­sic, PerkinElmer’s Vanadis Test® has been com­plete­ly redesigned with the aim of opti­miz­ing test­ing for tri­somies 21, 18 and 13. This is achieved by a new pro­ce­dure based on ‘rolling cir­cle repli­ca­tion’, which ana­lyzes only DNA frag­ments rel­e­vant for test­ing. For each analy­sis, an incred­i­ble 1.8 mil­lion mea­sur­ing points are eval­u­at­ed by means of a com­plete­ly auto­mat­ed lab­o­ra­to­ry process in the Eluthia lab­o­ra­to­ry in Gießen. This reduces the num­ber of test fail­ures to well below 0.5%.

The prod­uct is opti­mized for test­ing for sex chro­mo­somes, the 22q11.2 microdele­tion and for twin preg­nan­cies. It pro­vides accu­rate sex deter­mi­na­tion that is approx­i­mate­ly 1,000 times more accu­rate than oth­er NIPTs. For test­ing for the 22q11.2 microdele­tion, the test has an excel­lent pos­i­tive pre­dic­tive val­ue of 53%, which is approx­i­mate­ly 10 times bet­ter than oth­er NIPTs. This has been demon­strat­ed in the mul­ti­cen­ter, prospec­tive SMART study of over 20,000 preg­nant women. Panora­ma is the only NIPT that allows mater­nal mosaics to be fil­tered out when test­ing for Turn­er syn­drome, reduc­ing the num­ber of false-pos­i­tive results. Fur­ther­more, it is the only NIPT that allows deter­mi­na­tion of whether twins are iden­ti­cal or fra­ter­nal; it deter­mines the fetal frac­tion for both twins sep­a­rate­ly and deter­mines the fetal sex for each twin separately.

For the first time, the new QCT tech­nol­o­gy makes it pos­si­ble to detect tiny sin­gle base exchanges, i.e. changes at the mol­e­c­u­lar lev­el, in order to be able to deter­mine the genet­ic trig­gers for cer­tain seri­ous dis­eases in the fetus as ear­ly as the 10th week of preg­nan­cy. The most com­mon form of SMA, for exam­ple, leads to the death of affect­ed chil­dren after only a few years. Brand new gene ther­a­py drugs that can cure this dis­ease require the ear­li­est pos­si­ble diagnosis.

To round off the pre­na­tal test­ing spec­trum, Eluthia, also in col­lab­o­ra­tion with the Zotz|Klimas lab­o­ra­to­ry, offers a NIPT for test­ing for rhe­sus fac­tor D, which has recent­ly become a statu­to­ry health insur­ance ben­e­fit in Germany.