Panorama - Non-invasive prenatal test (NIPT)

A patient behind any sample!
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Panorama is a noninvasive prenatal screening test (NIPT) that reveals your baby’s risk for genetic disorders as early as nine weeks. Panorama analyzes baby’s (placental) DNA through a simple blood draw from the mother’s arm.

Panorama uses unique SNP*-based technology to deliver the most accurate non-invasive prenatal testing on the market.

Panorama is the #1 NIPT and has now been used in more than three million pregnancies.

Panorama is the only test that differentiates between maternal and fetal DNA.

Panorama is a reliable test!

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  • the most rigorously validated NIPT
  • the only NIPT that provides the most clinically significant information
  • the approach that creates unique, clinically validated capabilities

Panorama evaluates SNPs— the 1% of our DNA that makes us different from one another.

The SMART study showed that the sensitivity and specificity of Panorama were maintained in daily clinical practice1

The SMART study looked at highest number of low-risk pregnancies with confirmatory genetic testing1

The SMART study has shown that for Panorama, patients with “no results” results after redrawing the blood sample need to be monitored more closely3

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Panorama offersscreening for twin, egg donor, and surrogate pregnancies!

The SMART study demonstrated that the sensitivity and specificity of Panorama were maintained in daily clinical practice1.

The SMART study analyzed the highest number of low-risk pregnancies with confirmatory genetic testing1.

SMART has shown that, for Panorama, patients with “no results” results after re-harvesting need to be monitored more closely3.

Conditions screened for

Panorama prenatal genetic testing screens for common genetic conditions that are caused by extra or missing chromosomes in the baby’s DNA. Because Panorama uses a unique technology to truly distinguish between the mother’s and the baby’s DNA, it is the only NIPT that tests for triploidy, and it has the highest accuracy in determining the sex of the baby (optional). 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. Microdeletions affect pregnancies equally, regardless of maternal age.

TRISOMIES

TRISOMY 21 (DOWN SYNDROME)

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. 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 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the roof of the mouth (cleft palate), small head, clubbed feet, underdeveloped fingers and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3000 live births.

TRISOMY 13 (PATAU SYNDROME)

Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defect involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and or toes or an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5000 live births.

SEX CROMOSOME ABNORMALITIES

MONOSOMY X (TURNER SYNDROME)

Babies with monosomy X are females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, girls with monosomy X will need extra medical care including hormone therapies at various stages of life.

KLINEFELTER SYNDROME

Boys with Klinefelter syndrome have an extra X chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. Men with Klinefelter syndrome may be infertile. About 1 in 1000 babies will be born with Klinefelter syndrome.

TRIPLE X SYNDROME

Girls with Triple X syndrome have an extra X chromosome (XXX). Girls with this condition may be taller than average and may experience learning difficulties or behavioral problems. Approximately 1 in 800 girls will be born with an extra X chromosome.

JACOBS SYNDROME

Boys with Jacob’s syndrome have an extra Y chromosome (XYY). Most babies with XYY syndrome do not have any birth defects. Boys with XYY may be taller than average and have an increased risk for learning, speech, and behavioral problems. Approximately 1 in 650 boys will be born with an extra Y chromosome.

MICRODELITIONS

22q11.2 DELETION SYNDROME (DiGeorge SYNDROME)

The 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2000 babies is born with the 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems and/or seizures. About one in five children with the 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.

PRADER-WILLI SYNDROME

Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10000 babies are born with Prader-Willi syndrome.

ANGELMAN SYNDROME

Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12000 babies are born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.

1p36 DELETION SYNDROME

1p36 syndrome, also referred to as Monosomy 1p36 syndrome, is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5000 newborn babies has 1p36 deletion syndrome.

 

CRI-DU-CHAT SYNDROME

A missing place of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to high pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About one in every 20000 babies is born with Cri-du-chat syndrome. They may also have heart defects, growth delay, behavior problems and some have curvature of the spine.

TRIPLOIDY

THE ONLY NIPT THAT TESTS FOR TRIPLOIDY.

Babies with triploidy have a complete extra set of chromosomes for a total of 69 chromosomes instead of the usual 46. At 10 weeks gestation, one in 1,000 pregnancies is affected by triploidy. It is extremely rare for these pregnancies to reach term as they typically spontaneously miscarry early in pregnancy. Those few liveborns usually pass away within days of delivery due to heart, brain, and kidney problems. Babies with triploidy also often have birth defects affecting the extremities and face.

Carrying a baby with triploidy can increase a mother’s risk for a variety of conditions: pre-eclampsia (which can lead to seizures) and excessive bleeding after delivery. In rare instances, triploid pregnancies can persist and progress to a type of cancer called choriocarcinoma. Knowing about triploidy allows the physician to monitor the health of the mother appropriately.

* Not available for egg-donor or surrogate pregnancies or in cases of dizygotic (non-identical twins).

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Why

choose Panorama for fetal genetic testing?

Panorama has been chosen by over 2 million women in 80 countries. It is safe, reliable and very sensitive. Clinical trials have demonstrated the exceptional accuracy of the test. Through the unique method of analysis Panorama is able to read fetal DNA at the letter level. This way, you are sure that you are getting the information you need about your child.

Why choose Panorama for fetal genetic testing?

Panorama detects conditions that other tests cannot, including molar pregnancy, triploidy and vanishing twin4.
Panorama can be performed for singleton, twin, egg donor, and surrogate pregnancies9.
Panorama screens for Down syndrome with an accuracy rate greater than 99%1,5-7.

Panorama is the only NIPT that can assess zygosity, individual fetal sex, and individual fetal fraction* in twin pregnancies10.
*Numai pentru gemenii dizigoți

Panorama has the highest sensitivity for 22q11.2 deletion syndrome, a common and potentially severe microdeletion that impacts pregnancies equally regardless of maternal age2.

Panorama is the only test that differentiates between maternal and fetal DNA, which helps avoid false positives and false negatives1,5-9.

Panorama’s SNP-enabled capabilities make every result matter

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Vanishing twin detection4

Recognized by the American College of Obstetricians and Gynecologist (ACOG) as a major cause of NIPT false positives8

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Maternal X mosaicism detection11

As women age, mosaicism for a missing X chromosome becomes more common, and is another ACOG-recognized major cause of error in NIPT8

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Triploidy detection4

As stated in ACOG practice bulletin 226, SNP-based NIPT (Panorama) is the only non-invasive method that can identify triploidy8

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Reporting sex of the baby

Among commercially available NIPTs, Panorama has the highest published accuracy in determining the sex of the baby. Panorama’s ability to analyze SNPs unique to the Y chromosome and to detect the presence of vanishing twin pregnancies helps to overcome causes of inaccurate reporting of fetal sex common with other technologies.

If the mother is a known carrier of a genetic condition, or if there is a known family history of an x-linked condition, (for example, Duchenne Muscular Dystrophy) determination of the baby’s sex by NIPT can help determine the need for further diagnostic testing in the pregnancy.

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Low risk

A ‘low risk’ result indicates that it is very unlikely that your baby is affected by one of the conditions on the Panorama panel.

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High risk

A ‘high risk’ result does not mean your baby has a chromosomal abnormality; rather, it indicates a very high probability that your baby may have that condition. Your doctor may recommend that you speak with a genetic counselor and/ or maternal fetal medicine specialist. You may be offered invasive diagnostic testing such as amniocentesis or CVS. No irreversible pregnancy decisions should ever be made based on a Panorama result alone.

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No-call

In a small percentage of cases, Panorama may not be able to obtain sufficient information from your blood sample to determine an accurate result. If this occurs, a second blood sample may be requested.