Noninvasive Prenatal
Screening (NIPS)

Get accurate prenatal insights as early as week 10 with Illumina Verifi 

NIPS is a blood-based genetic, prenatal screening test of the pregnant person that screens for common chromosomal conditions that affect a baby’s health.

This test, performed on the Illumina VeriSeq NIPS Solution v2 platform, uses counting-based analysis to determine the probability that certain regions of the genome are over- or underrepresented. Data are generated through massively parallel whole genome sequencing. This process analyzes cell-free DNA (cfDNA) to generate paired-end data that are then compared with a reference genome. The comparisons help detect the likelihood of chromosomal abnormalities in the fetus. Results are reported as aneuploidies detected or not detected.

NIPS delivers more accurate than maternal serum screening methods for detecting fetal chromosome aneuploidies and is used for screening in women carrying a single fetus or twins and can be performed as early as 10 weeks into a pregnancy. It requires a maternal blood draw and carries no risk of miscarriage. The high-efficiency screening process is also fast and can deliver results to patients within five to seven days.

Verifi is a screening test, which means that this test does not make a final diagnosis. A positive result means that your pregnancy has a higher chance of having a specific genetic condition. However, you cannot know for sure if your baby has that condition based upon the screening result alone. All medical decisions should be made after discussion with your care team regarding diagnostic testing during the pregnancy, like chorionic villus sampling (CVS) or amniocentesis, or testing the baby after birth.

Insights into genetic health risks

Verifi

  • Provides accurate prenatal insights as early as week 10
  • Is as safe and simple as a blood draw
  • Gives insights into genetic health risks with greater than 99% accuracy
  • Broadest screening window of any prenatal aneuploidy screening test
  • Is available for all pregnant women
  • Reduces the number of invasive confirmatory procedures performed in unaffected pregnancies
  • Has a high reported detection rate for Down syndrome
  • Has low reported false positive rate for Down syndrome

Compared to conventional prenatal serum screening, Verifi has:

  • Lower false-positive rates
  • Higher detection rates of Down Syndrome (T21), Edwards Syndrome (T18), and Patau Syndrome (T13)
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>99% accuracy for trisomies 21, 18, and 13

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Gain insights into prenatal genetic health risks as early as week 10

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Reduce the number of invasive procedures in unaffected pregnancies

CONDITIONS SCREENED FOR

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Verifi screens for common genetic conditions that are caused by extra or missing chromosomes in the baby’s DNA and rare autosomal conditions caused by gene mutations. Some conditions, such as Down syndrome, are caused by extra copies of a specific chromosome. Others, such as microdeletions, occur when a chromosome is missing a small piece of genetic information. Verifi screens for:

  • Common aneuploidies (trisomies 21, 18, and 13)
  • Rare autosomal aneuploidies
  • Sex chromosome aneuploidies
  • Copy number variants

TRISOMIES

Trisomy 21 (Down syndrome)

Babies with trisomy 21, also called Down syndrome, have three copies of chromosome 21 and have intellectual and physical disabilities that range from mild to severe. Every child with Down syndrome is different, but all will need some level of medical care depending on their specific health conditions. The presence of medical conditions, like heart defects, can affect the lifespan of these children and adults; however, most individuals with Down syndrome will live into their 60s. Down syndrome remains the most common chromosomal condition diagnosed in the United States. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Trisomy 18 (Edwards syndrome)

Babies with trisomy 18, also called Edwards syndrome, have three copies of chromosome 18 abnormalities and have severe intellectual disabilities and birth defects in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability. Trisomy 18 occurs in approximately 1 in 3,000 live births.

Trisomy 13 (Patau syndrome)

Babies with trisomy 13, also called Patau syndrome, have three copies of chromosome 13 and severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Trisomy 13 occurs in approximately 1 in 5,000 live births.

SEX CHROMOSOME ANEUPLOIDIES

Monosomy X (Turner syndrome)

Babies with monosomy X, also called Turner syndrome, is a condition that affects only females, and results when one of the X chromosomes is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy.

XXY syndrome (Klinefelter syndrome)

Babies with XXY syndrome, also called Klinefelter syndrome, is a condition that affects only females, and results when there are two X chromosomes and one Y chromosome. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. This condition can be associated with learning difficulties and behavioral problems. People with Klinefelter syndrome might be infertile. About 1 in 1,000 babies will be born with Klinefelter syndrome.

Triple X syndrome

Babies with X syndrome, also called XXX syndrome or trisomy X, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Approximately 1 in 1,600 babies will be born with three X chromosomes.

XYY syndrome (Jacob's syndrome)

Babies with XYY syndrome, also called Jacob’s syndrome, is chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. Children with XYY could be taller than average and have an increased chance for learning, speech, and behavioral problems. Approximately 1 in 1,300 babies will be born with XYY syndrome.

MICRODELETIONS

15q11.2 deletion syndrome

15q11.2 deletion syndrome, also called Burnside Butler syndrome, is a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent.

22q11.2 deletion syndrome

22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 22 (at a location designated q11.2) is missing (deleted). While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease. About one in five children with 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.

4p16.3 deletion syndrome

4p16.3 deletion syndrome, also called Wolf-Hirschhorn syndrome, results from the deletion of genetic material on the short p arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing (prominent forehead), ocular hypertelorism (increased distance between two body parts), prominent glabella (area of skin between the eyebrows and above the nose), long narrow palpebral fissures (the area between the open eyelids), low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. 4p16.3 syndrome occurs in approximately 1 in 20,000 to 1 in 50,000 births.

5p15.2 deletion syndrome

5p15.2 deletion syndrome, also called Cri-du-chat syndrome is a genetic disorder caused by the loss of a fragment of the p short arm of chromosome 5 (region 5p15.2). Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex. Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor disability) and moderate to severe intellectual disability. Additional symptoms affecting different organ systems of the body can also occur. The prevalence is estimated at 1 in 15,000-50,000 births.

FAQs

Who should have a Verifi prenatal screen?

New guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend Noninvasive Prenatal Screening (NIPS) be made available to all pregnant women, regardless of maternal age or baseline risk. Previously, only pregnant women at risk or over the age of 35 were offered NIPS to learn vital information about the health of their baby.

The Verifi prenatal screen is designed for women of any age and ethnicity who are at least 10 weeks pregnant. It can be used by women carrying twins and women who have used an egg donor.

When should my patients have a Verifi prenatal screen?

Verifi can be performed as early as 10 weeks into the pregnancy.

What are the benefits of a Verifi prenatal screen?

As early as 10 weeks into pregnancy, a simple blood draw can tell you if a fetus is at higher risk for having Down syndrome and other common genetic conditions, as well as the sex of the baby. Noninvasive and accurate, Verifi gives insights into genetic health risks, reducing the number of invasive confirmatory procedures performed in unaffected pregnancies. Compared to conventional prenatal serum screening, Verifi has lower false-positive rates and higher detection rates of Down Syndrome (T21), Edwards Syndrome (T18), and Patau Syndrome (T13).

How do I begin offering Verifi in my practice?

You can contact Signature by calling (412) 763-2567 or emailing Solutions@SignatureDx.com. You will be connected with our Patient Care Team who will set up an account for you.