The Verifi Prenatal Test is a noninvasive prenatal test that screens for multiple fetal chromosomal aneuploidies using one tube of maternal blood. The test offers the following benefits:
Noninvasive prenatal testing (NIPT) is a screening test. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions.
Offering your patients the Verifi Prenatal Test is easy. Our Verifi NIPT service provides the test through regional, reference, and some select national laboratories. These partners send their samples to an Illumina CLIA lab for processing and then reports are sent back to the labs.
Physician recommends and orders test for patient.
Requisition and Informed Consent forms are completed, patient proceeds to blood draw.
Blood sample and test request form are sent back to lab.
Lab processes and analyzes the sample.
Test results are sent to health care professional.
Our focus on maternal and fetal health affects everything we do to help you provide the optimal care for your patient.
An in-house group of genetic counselors is available to provide guidance on laboratory results.
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Trisomy 21 - Trisomy 21 (also called Down syndrome) occurs when three copies of chromosome 21 are present instead of two. People with Down syndrome usually have intellectual disabilities that can range from mild to severe. Physically, they frequently have low muscle tone and may have heart defects. They may have a shorter lifespan. But, since every person with Down syndrome is a unique individual, not everyone with the condition will have all of the same features.
Trisomy 18 - Trisomy 18 (also called Edwards syndrome) occurs when three copies of chromosome 18 are present instead of two. People with trisomy 18 have severe intellectual disabilities and birth defects affecting multiple organs. Few babies born with trisomy 18 survive their first year of life.
Trisomy 13 - Trisomy 13 (also called Patau syndrome) occurs when three copies of chromosome 13 are present instead of two. People with trisomy 13 have severe intellectual disabilities and birth defects affecting multiple organs. Few babies born with trisomy 13 survive their first year of life.
Monosomy X - Monosomy X (also called Turner syndrome) occurs when only one sex chromosome (the X chromosome) is present, and the second sex chromosome is missing. 1-1.5% of all pregnancies have Monosomy X. About 99% of these pregnancies will miscarry. About 1 out of every 2000 live born females has monosomy X. Common features of monosomy X include heart defects and hormone problems which can lead to shorter than average height, delayed puberty and infertility.
Triple X Syndrome (XXX) - 47,XXX occurs in about 1 in every 1,000 female live births. Many females with 47,XXX do not have any noticeable characteristics. Variable characteristics of 47,XXX include taller than average height, learning difficulties, speech, and language delays. Delayed development of motor skills and behavioral and emotional difficulties are also possible.
Klinefelter syndrome (47,XXY) - Klinefelter syndrome occurs in approximately 1 in every 500 to 1000 male live births. Variable characteristics of Klinefelter syndrome include speech and/or learning difficulties, tall stature and small testes.
Jacob’s syndrome (47,XYY) - 47,XYY occurs in approximately 1 in every 1,000 male live births. Variable characteristics of 47,XYY include delayed development of speech and language skills, learning disabilities and autism spectrum disorders.
Microdeletions - Microdeletions are chromosome disorders caused by small missing pieces of chromosome material. They cannot usually been seen by routine methods of chromosome analysis. Microdeletions can occur on any of the 23 pairs of chromosomes. Some occur more commonly in a specific area of a particular chromosome and have been linked to known genetic syndromes. Most occur by chance, rather than being inherited from a parent, and can occur with no prior family history and without other risk factors (eg, advanced parental age).
22q11.2 syndrome – 22q11.2 syndrome (also called DiGeorge syndrome, Velocardiofacial syndrome) affects approximately one out of every 4000 live births. Signs and symptoms are variable but it can be associated with learning problems, congenital heart defects, incomplete fusion of the palate (cleft palate). Life expectancy is usually normal.
1p36 deletion syndrome – 1p36 deletion syndrome affects approximately one out of every 4000 to 10,000 live births and is associated with characteristic facial features, seizures, and brain and heart defects. Intellectual disability is variable. Life expectancy is variable but can be normal.
Angelman syndrome* – Angelman syndrome (also called 15q11.2 deletion syndrome) affects approximately one out of every 12,000 live births. Features of Angelman syndrome include intellectual disability, speech problems, and seizures. Life expectancy is usually normal.
Prader-Willi syndrome* – Prader-Willi syndrome (also called 15q11.2 deletion syndrome) affects approximately one out of every 10,000–25,000 live births and is associated with low muscle tone, morbid obesity, delayed motor and language skills, intellectual disability, and small testes. Life expectancy is variable, but usually normal.
Wolf-Hirschhorn syndrome (4p- syndrome) - Wolf-Hirschhorn syndrome (also called 4p- syndrome) affects approximately one out of every 50,000 live births. Features include growth deficiency, low muscle tone, facial features, intellectual disability, and heart and brain problems. Life expectancy varies.
Cri du Chat syndrome (5p- syndrome) – Cri du Chat syndrome (also called 5p-syndrome) affects approximately one out of every 20,000–50,000 live births. Features include intellectual disability, speech delay, and a ‘cat-like’ cry. About 10% of babies will not survive the first year of life; for the 90% that survive, life expectancy varies but is usually normal.
Patients with high risk* of fetal aneuploidy are covered by most commercial and public insurance plans in the US. As the clinical guidelines continue to catch up with the emerging technology, some insurance companies, including Anthem Blue Cross Blue Shield and Cigna, have expanded their coverage to all pregnant women and have become the biggest health plans that reimburse NIPT.
The American College of Medical Genetics and Genomics (ACMG) recommends informing all pregnant women that NIPT is the most sensitive screening option for traditionally screened aneuploidies 13, 18 and 21 for a continuum of gestational age beginning at 9–10 weeks. The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal Fetal Medicine (SMFM) have also recommended: "All women should be offered the option of aneuploidy screening or diagnostic testing for fetal genetic disorders, regardless of maternal age. The choice of screening test is affected by many factors, including a desire for information before delivery, prior obstetric history, family history, and the number of fetuses. No one test is superior for all test characteristics and not every test is available at all centers."
*According to the guidelines1 by ACOG and SMFM, high risk is associated with the following:
Depending on the location of your practice and access to health plans, please consult with your insurance plan administrators on whether your patient is eligible for NIPT coverage.
Reimbursement rates for NIPT vary among insurance plans due to contracts. NIPT list prices range from under $1,000 to more than $2,000 per test. Studies found that utilizing NIPT as a first-line screen becomes cost effective at a price of $619–7442-4, with the majority of this value derived from screening for trisomy 214. NIPT is cost-saving when used in the general pregnancy population.
2.Benn P, Curnow KJ, Chapman S, Michalopoulos SN, Hornberger J, Rabinowitz M. An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS One. 2015;10(7):e0132313.
3.Fairbrother G, Burigo J, Sharon T, Song K. Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis. J Matern Fetal Neonatal Med. 2016;29(7):1160-1164.
4.Walker BS, Nelson RE, Jackson BR, Grenache DG, Ashwood ER, Schmidt RL. A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States. PLoS One. 2015;10(7):e0131402.
At the beginning of 2017, CMS finalized the 2017 pricing on the three CPT Codes associated with NIPT.
|CPT Code||Brief Description||Final CY 2017|
|0009M||Fetal aneuploidy (trisomy 21, and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy||$602.10|
|81420||Fetal chromosomal aneuploidy (e.g., trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in maternal blood, must include analysis of chromosomes 13, 18, and 21||$802.33|
|81422||Fetal chromosomal microdeletion(s) genomic sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood||$802.33|
Since the beginning of NIPT development, over 60 publications have been generated and published by clinical and technical experts and medical societies. To help you and your colleagues make a decision more easily, we have summarized the currently available studies, guidelines, and bibliography in the clinical dossier that you can download and review.
Our network of reliable partners offer the Verifi Prenatal Test. They can also offer services to further enhance the patient and physician experience.
For questions about the Illumina Clinical Services Laboratory, contact us by phone at (858) 736-8080 or (855) 266-6563 (toll-free), or by submitting a ticket.
The Verifi Prenatal Test was developed by, and its performance characteristics were determined by Verinata Health, Inc. a wholly owned subsidiary of Illumina, Inc. The VHI laboratory is CAP-accredited and certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. It has not been cleared or approved by the U.S. Food and Drug Administration.