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Panorama

Noninvasive prenatal testing (NIPT)

Panorama is a blood-based genetic, prenatal screening test of the pregnant person that screens for common chromosomal conditions that affect a baby’s health. Panorama uses SNP*-based technology to deliver highly accurate results and unique insights for both singleton and twin pregnancies
Panorama can be performed as early as nine weeks gestation. Most results will be returned to your doctor within 5-7 calendar days.

Panorama is a screening test, which means that this test does not make a final diagnosis. A high risk 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 healthcare provider regarding diagnostic testing during the pregnancy, like chorionic villus sampling (CVS) or amniocentesis, or testing the baby after birth.
*SNP, single nucleotide polymorphism

The only SNP-based NIPT delivers more insights with high accuracy

Panorama is:

  • validated in the largest prospective NIPT study ever

  • the only NIPT that distinguishes mother’s DNA from baby’s DNA

  • the approach that creates unique, clinically validated capabilities

 

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

A Trusted Resource

  • Validated in SMART, the largest prospective NIPT study with over 20,000 participants enrolled.
  • More than 3 million people in more than 60 countries have chosen Panorama for genetic testing during pregnancy.
  • Panorama has been evaluated in 25 peer-reviewed publications and in more than 1.3 million pregnancies.
  • Panorama offers complimentary pre- and post-test information sessions with board-certified genetic counselors.
  • Panorama is performed from a simple blood draw of the pregnant person and poses no risk to the pregnancy.

Panorama is a screening test, which means that this test does not make a final diagnosis. A high risk 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 healthcare provider regarding diagnostic testing during the pregnancy, like chorionic villus sampling (CVS) or amniocentesis, or testing the baby after birth.

Findings from the SMART study have now been published in the American Journal of Obstetrics and Gynecology

Panorama offers prenatal screening for twin, egg donor, and gestational carrier pregnancies!

Conditions screened in twin, egg donor, and gestational carrier pregnancies:

  • Trisomy 21
  • Trisomy 18
  • Trisomy 13
  • Sex chromosome trisomies (reported when seen)*
  • 22Q11.2 deletion syndrome (optional)*

*Identical twins only

Conditions Screened For

Panorama 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 distinguish between the pregnant person’s and the baby’s DNA, it is the only NIPT that tests for triploidy, and it has zero errors in clinical validations 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.

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 medical 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 lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a 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 3,000 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 defects involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and/or toes or an opening in the lip, with or without 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 5,000 live births.

SEX CHROMOSOME ANEUPLOIDIES
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 therapy at various stages of life.

XXY Syndrome (Klinefelter Syndrome)

Babies with XXY syndrome have two X chromosomes and one Y chromosome (XXY). 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 Triple X syndrome have three X chromosomes (XXX). Children with this condition could be taller than average and might experience learning difficulties or behavioral problems. Approximately 1 in 1,600 babies will be born with three X chromosomes.

XYY Syndrome (Jacob's Syndrome)

Babies with XYY syndrome have one X chromosome and two Y chromosomes (XYY). Most babies with XYY syndrome do not have any birth defects. 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 one X chromosome and two Y chromosomes.

MICRODELETIONS*

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

22q11.2 deletion syndrome

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 2,000 babies is born with 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 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 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 10,000 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 12,000 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 deletion 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 5,000 newborn babies has 1p36 deletion syndrome.

Cri-du-chat syndrome

A missing piece 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 the 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 20,000 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
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 gestational carrier pregnancies or in cases of dizygotic (nonidentical twins)

Complete Test Specifications

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