Noninvasive Prenatal Testing (NIPT)

The NIPT (Noninvasive Prenatal Testing) looks at the DNA (genetic material) in your blood. When pregnant, there is maternal and pregnancy DNA circulating in your maternal blood. The test can tell if there are too many or too few copies (also called an “aneuploidy”) of certain chromosomes—13, 18, and 21—circulating which if you yourself do not have an aneuploidy, suggests that it has to be present in your fetus. The test can also look at sex chromosomes (X and Y), and can determine if there are too many or too few copies of the sex chromosomes.

The NIPT has been developed to identify patients who have an increased risk for having a baby with an incorrect number of certain chromosomes. Your health care provider has discussed your concerns regarding your pregnancy with you, and has determined that you are an appropriate candidate for this test.

The test is performed after 10 weeks, 0 days of pregnancy. Adequate DNA in the blood sample is required to complete the test. Additional samples may be needed if the sample is damaged in shipment, incorrectly submitted or has a low amount of pregnancy DNA. After analysis in Cooper Genomics laboratory, the test results will be returned to your healthcare provider, who will discuss them with you.

Obtaining and Interpreting Test Results:

Your test results will be returned to your healthcare provider after analysis. The results will be reported only to the qualified healthcare provider(s) indicated on the front of sample submission form. Your results will tell your healthcare provider whether too few or too many copies of the chromosomes being tested for are present. It is the responsibility of the healthcare provider ordering this test to understand the specific uses and limitations of this test, and to make sure you understand them as well. If a genetic disorder is detected, follow up testing (such as amniocentesis or chorionic villus sampling) is recommended to confirm the result.

Your test report will include one of three possible results for chromosomes 13, 18, and 21: No Aneuploidy Detected, Aneuploidy Detected, or Aneuploidy Suspected (Borderline Value). Sex Chromosomes will be reported as No Aneuploidy Detected, or Aneuploidy Detected.

Please note that this is NOT a diagnostic test and despite all research and professional efforts to ensure the accuracy of test results, there remains a small possibility (as detailed below) of error, such that a Downs fetus screens negative, or a healthy fetus screens positive.

Preimplantation Genetic Screening (PGS)

Preimplantation Genetic Screening (PGS) is a test that examines the chromosome material of an embryo. It can tell if the appropriate number of chromosomes are present (46), or if an abnormal number of chromosomes are present.

Benefits of Preimplantation Genetic Screening

Preimplantation Genetic Screening to select healthy embryos with the correct number of chromosomes does the following:

Increases the chance of a healthy pregnancy across all age groups

All pregnancies are at risk for a chromosome abnormality. In fact, it is estimated that half of human fertilizations carry the wrong number of chromosomes, which is a leading cause of miscarriage. The risk of having a pregnancy with a chromosome abnormality increases as females age. Unlike men, who produce millions of sperm daily, a woman is born with all of her eggs already created. The ability of her eggs to produce a healthy child decreases as she gets older. This is why a woman’s age is critical when considering the probability for getting pregnant.

Reduces the likelihood of miscarriage

In IVF cycles that do not include Preimplantation Genetic Screening, embryos are chosen primarily on their visual quality – which cannot distinguish chromosomally normal embryos from abnormal ones. IVF cycles that do include PGS enable the identification of embryos with normal chromosomes, and are more likely to result in a pregnancy that leads to a healthy baby.

Reduces time between IVF cycles

Preimplantation Genetic Screening reduces time between IVF cycles by allowing the identification of a normal embryo as soon as possible. If a woman goes through an IVF cycle and a normal embryo is not identified, she can start her next cycle right away.

Allows for confident single-embryo transfer, which helps avoid the added health complications associated with twin or triplet pregnancies

PGS allows for single-embryo transfer by identifying the embryo that has the best chances of implanting and leading to a healthy child. Historically, physicians would transfer multiple embryos due to low implantation rates, which commonly resulted in twin or multiple pregnancies. Multiple pregnancies can cause increased risk for complications during pregnancy, such as preterm birth, abnormal placental function, preeclampsia, and others.

Chromosome makeup is a major contributing factor to having a successful pregnancy, but there are also a number of other factors involved. You can think of chromosome material as being one piece of the puzzle, but there are other pieces that must fit together in order for a healthy pregnancy to occur. Other things that can contribute to a successful pregnancy include maternal anatomy, hormonal imbalances, inherited disorders, and blood conditions. Be sure to consult with your doctor regarding all other risk factors.

HLA Seq

The human leukocyte antigen (HLA) is the most densely polymorphic region of the genome. HLA genes have been strongly associated with transplant rejection, autoimmune disease, vaccine pharmacogenomics (vaccinomics), cancer, and mate selection.

Sequencing the HLA region can provide critical insight into immune disorders. Achieving high-resolution human leukocyte antigen (HLA) typing results with conventional methods requires multiple assays, systems, and analysis programs. HLA typing by next-generation sequencing (NGS) generates unambiguous, phase-resolved HLA typing results using a single assay, system, and analysis program.

The TruSight HLA Sequencing Panel v2 produces high-resolution typing of 11 HLA loci. Our comprehensive sample-to-report solution for HLA typing includes reagents and software optimized for HLA analysis. A simplified workflow enables lesser turnaround time and increased efficiency.

TruSight HLA v2 covers all commonly typed HLA loci, plus those with emerging relevance. This panel enables sequencing of Class I HLA-A, B, and C; Class II HLA-DRB1/3/4/5, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1. This expands coverage beyond the classic loci, with full gene coverage, enabling discovery of new alleles without the need to design new primers.

Advantage of NGS to HLA Analysis

In principle, NGS is similar to Sanger (CE-based) sequencing. The bases of a DNA fragment are identified sequentially from signals emitted as each fragment is resynthesized from a DNA template strand. NGS scales up this process; millions of reactions occur in a massively parallel fashion, rather than being limited to a single or a few DNA fragments. This advance enables rapid sequencing of large stretches of DNA, with the latest instruments capable of producing hundreds of gigabases of data in a single sequencing run.

Illumina NGS technology supports paired-end sequencing, a unique feature that is crucial for successful, unambiguous HLA typing. Sequencing the ends of the library DNA fragments generates high-quality base calls. The physical link between the 2 reads (originating from the same clonally amplified library DNA fragment) allows association of variants found in each read pair. The distance between the paired reads varies as a result of the random library fragment generation process allowing the direct resolution of the phase of 2 variants.

TruSight HLA enables phase-resolved, sample-to-report HLA typing for 11 loci in a single assay, with a single workflow, on a single instrument, for dozens of samples simultaneously. Gone are the days of resolving ambiguities for every sample at every locus; TruSight HLA delivers an ultra-high–resolution typing result the first time.

Analysis Software Highlights

The Assign 2.0 TruSight HLA analysis software assists with the assignment of a human leukocyte antigen (HLA) type. The software is designed to analyze data from libraries prepared with Illumina TruSight HLA Sequencing Panels and then sequenced on an Illumina sequencer. Use Assign 2.0 to import sequence data, perform base calling, edit sequences, and compare a sample consensus sequence with the IMGT/HLA database of alleles.