{"id":443,"date":"2020-01-03T14:46:29","date_gmt":"2020-01-03T13:46:29","guid":{"rendered":"https:\/\/www.praenaforyou.com\/?page_id=443"},"modified":"2020-01-03T14:46:30","modified_gmt":"2020-01-03T13:46:30","slug":"performance-qualification","status":"publish","type":"page","link":"https:\/\/www.praenaforyou.com\/en\/prenatal-care\/praenatest\/information-for-physician\/performance-qualification\/","title":{"rendered":"Performance qualification"},"content":{"rendered":"\n

Performance qualification<\/h2>\n\n\n\n

PrenaTest®<\/sup> for the determination of fetal trisomy 21 (test option 1)<\/h4>\n\n\n\n

The performance of the PrenaTest®<\/sup> Option 1 has been validated in a clinical study. The study results of the maternal plasma samples (n=1020) demonstrated a positive percentage agreement (PPA; equates to sensitivity) of 100% (lower 1-sided 95% confidence interval of 93.12%; n=42\/42) and a negative percentage agreement (NPA; equates to specificity; lower 1-sided 95% confidence interval of 99.54%; n=1019\/1020) of 99.9% compared to NGS-based PrenaTest®<\/sup>. The negative predictive value (NPV) was 100% (lower 1-sided 95% confidence interval of 99.71%). The PrenaTest®<\/sup> Option 1 can be applied in the case of singleton pregnancies.<\/p>\n\n\n\n

PrenaTest®<\/sup> Option 2 and 2 Plus<\/em> as well as Option 3 and 3 Plus<\/em><\/h4>\n\n\n\n

Source: <\/strong>Illumina VeriSeq NIPT Solution v2 Package Insert<\/a>, Document#1000000078751v01, August 2019<\/p>\n\n\n\n

Sensitivity and specificity for detecting trisomies 21, 18 and 13 for singleton pregnancies <\/p>\n\n\n\n

<\/td>Trisomy 21<\/td>Trisomy 18<\/td>Trisomy 13<\/td><\/tr>
Sensitivity<\/td>>99,9% (130\/130)<\/td>>99,9% (41\/41)<\/td>>99,9% (26\/26)<\/td><\/tr>
2-sided 95%-KI<\/td>97,1%, 100%<\/td>91,4%, 100%<\/td>87,1%, 100%<\/td><\/tr>
Specificity<\/td>99,90% (1.982\/1.984)<\/td>99,90% (1.995\/1.997)<\/td>99,90% (2.000\/2.002)<\/td><\/tr>
2-sided 95%-KI<\/td>99,63%, 99,97%<\/td>99,64%, 99,97%<\/td>99,64%, 99,97%<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

Estimates for trisomy 21, 18 and 13 in simulated population of twin pregnancies<\/p>\n\n\n\n

<\/td>Trisomy 21<\/td>Trisomy 18<\/td>Trisomy 13<\/td>Presence of Y<\/td><\/tr>
Sensitivity <\/td>96,4%<\/td>95,7%<\/td>93,6%<\/td>>99,9%<\/td><\/tr>
2-sided 95%-KI<\/td>(86,4%, 98,9%)<\/td>(68,3%, 99,4%)<\/td>(64,1%, 98,9%)<\/td>(99,9%, >99,9%)<\/td><\/tr>
Specificity <\/td>99,9 %<\/td>>99,9%<\/td>>99,9%<\/td>>99,9%<\/td><\/tr>
2-sided 95%-KI<\/td>(99,8%, >99,9%)<\/td>(99,9%, >99,9%)<\/td>(99,9%, >99,9%)<\/td>(99,7%, >99,9%)<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

Sensitivity und Specificity for rare autosomal aneuploidy (RAA); including known mosaics<\/p>\n\n\n\n

<\/td>Sensitivity<\/td>Specificity<\/td><\/tr>
Estimate % (n\/N)<\/td>96,4% (27\/28)<\/td>99,80% (2.001\/2.005)<\/td><\/tr>
2-sided 95%-KI<\/td>82,3%, 99,4%<\/td>99,49%, 99,92%<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
\n

Percent concordance calculated for each sex chromosome within each clinical reference standard outcome <\/p>\n\n\n\n\n\n\n\n\n\n\n\n
\u00a0<\/td>\nPhenotype from the newborn
(physical exam)<\/td>\n		Cytogenetic results <\/td>\n<\/tr>\n
\u00a0<\/td>\n\u00a0<\/td>\n\u00a0<\/td>\n\u00a0<\/td>\n\u00a0<\/td>\n\u00a0<\/td>\n<\/tr>\n
\u00a0<\/td>\nFemale<\/td>\nMale<\/td>\nXO<\/td>\nXXX<\/td>\nXXY<\/td>\nXYY<\/td>\nOther**<\/td>\n<\/tr>\n
Total<\/td>\n997\/997<\/td>\n966\/966<\/td>\n19\/21<\/td>\n17\/17<\/td>\n23\/23<\/td>\n11\/12<\/td>\n2\/2<\/td>\n<\/tr>\n
Percent Concordant<\/td>\n100%<\/td>\n100%<\/td>\n90,5%<\/td>\n100%<\/td>\n100%<\/td>\n91,7%<\/td>\nn.z.***<\/td>\n<\/tr>\n
** Other cytogenetic results were XXXXX und XXYY. *** not applicable<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div><\/div>\n\n\n\n

PrenaTest®<\/sup> for the detection of the 22q11.2 microdeletion (optional for test options 2 oder 3)<\/h4>\n\n\n\n

Phase 1
A total of 469 samples were tested, of which 175 (37.3%) met the quality criteria. Three positive samples with a 22q11.2 microdeletion were correctly determined (3\/3, 100%). All negative samples were correctly classified (172\/172, 100%). There were no false-positive or false-negative results.<\/p>\n\n\n\n

Phase 2
In a final internal blinded study, 20 samples from Phase 1 were examined. All samples were classified correctly. Due to the low number of cases a concrete test sensitivity and specificity cannot be derived.<\/p>\n\n\n\n

Fetal gender determination <\/h4>\n\n\n\n

For PrenaTest®<\/sup> Option 1 the determination of the fetal gender is based on the proprietary qPCR assay QuantYfeX®<\/sup>. The assay applied for fetal gender determination has not been validated in a clinical study; however, it has successfully completed an internal methodological-technical validation, in which 1160 samples were examined. A \u2013male\u2013 result is reported, if a Y chromosomal marker (SRY) is detected by QuantYfeX®<\/sup>. A \u2013female\u2013 result is reported, if a Y chromosomal marker (SRY) is not detected by QuantYfeX®<\/sup>. In very rare cases the fetal gender cannot be determined. In this case the fetal gender is not definable and the analysis will not be repeated.<\/p>\n\n\n\n

Literature<\/p>\n\n\n\n