Panorama™ is able to detect the following conditions caused by chromosomal anomalies:

• Down syndrome: This is caused by an extra copy of chromosome 21 and is also known as trisomy 21. This is the most common genetic cause of intellectual disability and individuals with Down syndrome have some degree of intellectual disability and/or defects of the heart or other organs. Some have other medical conditions, including hearing or vision loss. Approximately 1 in 750 babies is born with this condition; many live into their 60s or longer.
• Edwards syndrome: This is caused by an extra copy of chromosome 18 and is also known as trisomy 18. Most babies with trisomy 18 have severe intellectual disability and multiple severe birth defects. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Approximately 1 in 3,000 babies is born with trisomy 18.
• Patau syndrome: This is caused by an extra copy of the chromosome 13 and is also known as trisomy 13. Babies with this condition require significant medical care because they have severe intellectual disability and birth defects. Pregnancies diagnosed with trisomy 13 are at high risk for miscarriage or stillbirth. Similar to trisomy 18, of those babies born alive, most die before one year of age. Approximately 1 in 5,000 babies is born with trisomy 13.
• Turner syndrome: This is caused by a missing copy of the X chromosome and is also called Monosomy X. The condition only affects girls. Individuals with Monosomy X are shorter than average and often have infertility as adults. Some girls have heart or kidney defects, hearing problems, and some have minor learning disabilities. Girls with Monosomy X may need growth hormone treatments in early childhood and usually need sex hormone treatments at the time of puberty. Approximately 1 in 5,000 girls are born with Monosomy X.
• Triploidy: In triploidy, the fetus has 3 copies of each chromosome instead of two (a total of 69 chromosomes rather than 46). Approximately 1 in 100 conceptions are affected with triploidy. Most pregnancies with triploidy will miscarry in the early part of the first trimester, although later miscarriage or stillbirth can occur. The majority that survive die shortly after birth. Triploidy places the mother’s health at risk from pregnancy complications like pre-eclampsia, postpartum hemorrhage, and molar pregnancy with malignancy potential.

Microdeletions: When small pieces of genetic information are missing within a chromosome, they are called microdeletions. Microdeletions can affect health and development and occur in collectively 1 in 1000 pregnancies. The severity of the health impact is based on which chromosome information is missing.

• 2 Deletion 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 2,000 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 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 1 in 5 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 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 is 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. 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 1 in every 20,000 babies is born with Cri-du-chat syndrome.