Panorama screens for certain chromosome conditions in the baby. Humans have 23 pairs of chromosomes for a total of 46 — two copies of each chromosome. The first 22 pairs are numbered 1 through 22. The last pair determines sex. Girls have two X chromosomes, and boys have one X and one Y chromosome. Health and development problems occur when there are extra or missing chromosomes.
A trisomy occurs when there is an extra copy of any one chromosome — 3 copies instead of 2.
A monosomy occurs when there is a missing copy of any one chromosome — 1 copy instead of 2.
Triploidy occurs when there are 3 copies of all the chromosomes.
The Panorama test screens for more chromosome conditions than most of the other non-invasive tests. Natera is actively in the process of adding more conditions to the list. Currently, the Panorama test screens for:
Trisomy 21: This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common cause of intellectual disability. It may also cause certain birth defects of the heart or other organs and may cause hearing or vision problems.
Trisomy 18: This is caused by an extra copy of chromosome 18 and is also called Edwards syndrome. This causes severe intellectual disability. It also causes serious birth defects of the heart, brain and other organs. Babies with Edwards syndrome usually pass away before one year of age.
Trisomy 13: This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. This causes severe intellectual disability. It also causes many serious birth defects. Babies with Patau syndrome usually pass away before one year of age.
Monosomy X (also called Turner syndrome or 45,X): This is caused by a missing X chromosome and affects only girls. Girls with Monosomy X may have heart defects, hearing problems, minor learning disabilities and are usually shorter than average. As adults, they are often infertile.
Triploidy: This condition is caused by having an extra set of 23 chromosomes (for a total of 69) and is associated with severe birth defects. Being pregnant with a baby with this condition can be hazardous to the mother as it can lead to excessive bleeding after delivery, life-threatening seizures, and can be associated with the development of cancer. Babies with triploidy rarely make it to term and those that do usually pass away within a few months after delivery. It is important for the doctor to know about triploidy even if the mother miscarries.
Vanishing twin: This is a multiple gestation pregnancy in which one of the babies dies in utero. Because fetuses that die in utero have a higher chance of having a genetic problem, women with this condition have a higher chance of having a "false positive" result while using other testing methods.
Klinefelter syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXY and only affects boys. Boys with Klinefelter syndrome may have learning disabilities, tend to be taller than average, and most men with this condition are infertile.
Triple X syndrome: This is caused by an extra copy of the X chromosome, is also known as 47, XXX and only affects girls. Some girls with triple X syndrome have learning disabilities, some have emotional problems and most are taller than average.
47, XYY: This is caused by an extra copy of the Y chromosome, is also known as 47, XYY and only affects boys. Boys with this condition tend to be taller than average and may have associated mild learning and behavioral difficulties.
What is a microdeletion?
A small, missing (or "deleted") piece of a chromosome is called a microdeletion. Microdeletions are usually not inherited from a parent. They are not more common in older mothers, as Down syndrome is. In many cases, there are no obvious ultrasound abnormalities that would suggest the fetus has a microdeletion. Nothing you do before or during your pregnancy can cause a microdeletion. Some microdeletions cause intellectual disability and birth defects, while others have little impact on a child’s health and life.
What microdeletions are on the Panorama microdeletion screen?
Panorama screens for the following microdeletions. (Below are brief summaries of some of the conditions. For more information on these conditions, please click here to go to the support foundations page on the Panorama website.)
22q11.2 deletion syndrome / DiGeorge syndrome (happens in about 1 in 2,000 births)
Babies born with 22q11.2 deletion syndrome often have heart defects, immune system problems, and mild-to-moderate intellectual disability. They may also have kidney problems, feeding problems, and/or seizures.
1p36 deletion syndrome (happens in about 1 in 5,000 births)
Babies born with 1p36 deletion syndrome have weak muscle tone, heart and other birth defects, intellectual disabilities, and behavior problems. About half will have seizures.
Angelman syndrome (happens in about 1 in 12,000 births)
Babies born with Angelman syndrome often have delayed milestones (like sitting, crawling and walking), seizures, and problems with balance and walking. They also have severe intellectual disability and most do not develop speech.
Cri-du-chat syndrome, also known as 5p minus (happens in about 1 in 20,000 births)
Babies born with Cri-du-chat syndrome typically have low birth weight, small head size, and decreased muscle tone. Feeding and breathing difficulties are also common. They have moderate-to-severe intellectual disability.
Prader-Willi syndrome (happens in about 1 in 10,000 births)
Babies born with Prader-Willi syndrome have low muscle tone and problems with feeding and gaining weight. They also have intellectual disability. As children and adults, they have rapid weight gain and often develop obesity-related medical problems.