Sensitivity and Specificity for Trisomy 21, 18 and 13
|
|
Trisomy 21 |
Trisomy 18 |
Trisomy13 |
|
Sensitivity 2-sided 95%CI |
> 99.9 % (130/130) (97.1%, 100%) |
> 99.9% (41/41) (91.4%, 100%) |
> 99,9 % (26/26) (87.1%, 100%) |
|
Specificity 2-sided 95%CI |
99.90% (1.982/1.984) 99.63%, 99.97% |
99.90% (1.995/1.997) 99.64%, 99.97% |
99.90% (2.000/2.002) 99.64%, 99.97% |
Concordance for sex chromosomal aneuploidies and fetal gender
|
|
XX |
XY |
XO |
XXX |
XXY |
XYY |
|
Percent concordant |
100% |
100% |
90.5% |
100% |
100% |
91.7% |
Methods: This aneuploidy screening is based on Illumina VeriSeq NIPT Solution v2 and its performance has been validated by Bioscientia Institute for Medical Diagnostics GmbH. Illumina NIPT uses whole-genome sequencing with next-generation sequencing (NGS) technology to analyze cfDNA fragments across the whole genome.
Limitations: The VeriSeq NIPT Solution v2 is an in vitro diagnostic test intended for sequencing-based screening for the detection of fetal aneuploidies from maternal peripheral whole blood samples in pregnant women of at least 10 weeks gestation. The basic screen provides information on the aneuploidy status for chromosomes 21, 18, 13, X, and Y only. This product must not be used as the sole basis for diagnosis or other pregnancy management decisions. Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or subchromosomal abnormality. There is a small possibility that the test results might not reflect the chromosomal status of the fetus, but may instead reflect chromosomal changes in the placenta (ie, confined placental mosaicism) or in the mother that may or may not have clinical significance.
Copyright notice:
Illumina VeriSeq NIPT Solution v2 is trademark of Illumina, Inc. in the U.S. and other countries.