What is PrenatalSEQ?
PrenatalSEQ is a Non-invasive Prenatal Screening (NIPS) test that screens for chromosomal abnormalities in a developing fetus during pregnancy. PrenatalSEQ is available as early as 10 weeks gestation and requires just a single blood draw from the pregnant patient. Powered by Illumina’s CE-IVD VeriSeq™ NIPT Solution v2, PrenatalSEQ is performed in Genseq’s Dublin-based genomics laboratory. PrenatalSEQ is a screening test and must not be used as the sole basis for diagnosis or other pregnancy management decisions.Overview
Screen Name
Screen Code
Screen Category
Who Is The Screen For?
Screen Approach
What Is Screened?
- Trisomy 13
- Trisomy 18
- Trisomy 21
Screening for Certain Sex Chromosome Aneuploidies
(Optional add on):
- Monosomy X (Turner Syndrome)
- XXX syndrome (Triple X Syndrome)
- XXY syndrome (Klinefelter Syndrome)
- XYY syndrome (Jacob’s Syndrome)
Foetal Sex Determination (Presence or absence of a Y chromosome) (Optional add on)
Deliverables
Clinical Report
Turnaround Time
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.
What Does PrenatalSEQ Screen For?
PrenatalSEQ screens for three common chromosomal abnormalities:
PrenatalSEQ also offers an option to request the reporting of:
Important Note: PrenatalSEQ is powered by Illumina’s VeriSeq™ NIPT Solution v2. It is a screening test; it is not diagnostic. Test results must not be used as the sole basis for diagnosis. Further confirmatory testing is necessary to obtain a definitive genetic diagnosis.
Who Is The Screening For?
PrenatalSEQ can be requested by Healthcare practitioners for pregnant patients of at least 10 weeks gestation. The test is suitable for singleton and twin pregnancies, as well as IVF (donor egg or own egg) and non-IVF pregnancies. The test is not suitable for pregnancies with three or more fetuses.
Why PrenatalSEQ?
How Does The Screening Work?
PrenatalSEQ is powered by Illumina’s VeriSeq™ NIPT Solution v2. A single peripheral whole blood sample is collected from the pregnant patient and shipped to the Genseq laboratory where it is tested. The test analyses cell-free DNA (cfDNA) present in the blood sample.
cfDNA are short fragments of DNA released into the bloodstream through a naturally occurring phenomenon called apoptosis, or programmed cell death. During pregnancy, the pregnant patient’s blood contains cfDNA released from their own cells and from the fetus (via the placenta).
PrenatalSEQ uses a technique called Next-Generation Sequencing (NGS), or more specifically Whole Genome Sequencing (WGS), to analyse foetal cfDNA present in the blood sample. By examining the proportion of cfDNA derived from specific chromosomes, the test can screen for the presence of certain chromosomal abnormalities in the fetus.
What Are The Risks?
PrenatalSEQ is a screening test that involves a single blood draw from the pregnant patient. It does not carry the same risks associated with invasive diagnostic tests such as Chorionic villus sampling (CVS) and amniocentesis.
Assay Performance
PrenatalSEQ is powered by Illumina’s VeriSeq™ NIPT Solution v2 which delivers high accuracy with ≥99.9% sensitivity and specificity for trisomies 13, 18, and 211. A dynamic foetal fraction measurement means lower failure rates, fewer redraws, trusted results for the healthcare practitioners, and more answers delivered earlier to pregnant patients1. For detailed information on the performance of the assay, please refer to the VeriSeq™ NIPT Solution v2 Package Insert. View Here- Pertile MD, Flowers N, Vavrek D, et al. Performance of a paired-end sequencing-based noninvasive prenatal screening test in the detection of genome-wide fetal chromosomal anomalies. Clin Chem. 2021;67(9):1210-1219. doi: 10.1093/clinchem/hvab067.
Notes: refer to image at the right
Screening Test Limitations
PrenatalSEQ is powered by Illumina’s VeriSeq™ NIPT Solution v2. Evidence supporting sensitivity and specificity for the test covers singleton and twin pregnancies (triplets or higher-order pregnancies are not covered). The test is not intended to detect polyploidy, such as triploidy, or balanced chromosome rearrangements. The test looks for specific chromosome abnormalities. Results reported as no anomaly detected do not eliminate the possibility of chromosomal abnormalities of the tested chromosomes. A negative result does not eliminate the possibility that the pregnancy has other chromosomal abnormalities, genetic conditions, or birth defects (eg, open neural tube defect).Based on the literature evidence, cell-free DNA-based screening results can be confounded by certain maternal and foetal factors. Some of these are listed below, but are not limited to the following:
- Recent maternal blood transfusion
- Maternal prior organ transplant / stem cell transplant
- Maternal autoimmune disease
- Maternal neoplasms (benign and malignant)
- Maternal mosaicism
- Maternal copy number variations
- Fetoplacental mosaicism / confined placental mosaicism
- Fetal demise / vanishing twin
These should be discussed with the patient prior to sample collection to confirm eligibility for the screen.
This is a screening test and should not be considered in isolation from other clinical findings and test results. Conclusions about the foetal condition and pregnancy management decisions should not be based on the results of the NIPS screening alone.
Ordering PrenatalSEQ And Receiving A Report
Sample Collection kits can be ordered by Healthcare Practitioners from Genseq here.
Order a test using our clinical portal
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