Test principle

How does the Panorama™ test work?

During pregnancy, part of the baby’s DNA carrying the genetic material passes into the mother’s blood (for more information: we examine free DNA in plasma). This DNA contains valuable information about the health of your baby. The Panorama ™ test is a unique NIPT laboratory test in which the baby’s DNA is obtained from a sample of the mother’s blood. The infant’s DNA is examined for specific chromosome characteristics that could affect the baby’s health.
The Panorama ™ test differs from conventional tests in the method of analysis. The Panorama ™ test is the only test to distinguish between maternal and infant DNA. Thus, the Panorama ™ test is more accurate and gives you and your baby greater security.
With the unique analysis method of the Panorama ™ test, the chromosomes are not only viewed and counted externally, but the chromosomes and genes are analyzed in their detail structure “from the inside” – similarly to a paternity test. The DNA of the child is compared with that of the mother, which is why only this method can provide accurate information on the health of your baby, even in the case of genetic changes in the mother (e.g. mosaicism).

With conventional test methods, the number of chromosomes present is counted (counting method) without differentiation between maternal and infant DNA (genetic material) – so the source of error is obvious. The likelihood of “miscounting” with the number of chromosomes is high. These conventional test methods provide erroneous results for Triploidy, vanishing twin, and maternal genetic mosaicism.

 

What does Panorama™ look for?

With the Panorama™ test, the unique analysis method allows far more chromosome disorders to be detected than with conventional non-invasive tests.
We examine your baby’s DNA for the following disorders:

Trisomy 21

This disorder occurs when chromosome 21 is tripled. It is also called Down syndrome and is the most common cause of mental handicaps. In addition, it can cause certain deformities in the heart or other organs, as well as hearing and vision problems.

Trisomy 18

This disorder occurs when chromosome 18 is tripled. It is also called Edwards syndrome and causes a severe mental disability. It also leads to serious deformities in the heart, brain, or other organs. Babies with Edwards syndrome often die during their first year of life.

Trisomy 13

This disorder occurs when chromosome 13 is tripled. It is also called Patau syndrome, causes severe mental disability and leads to many serious deformations. Babies with Patau syndrome often die during their first year of life.

Monosomy X

This disorder is caused by a missing X chromosome and only occurs in girls. It is also called Turner’s Syndrome or 45, X. Girls with monosomy X may have heart defects, hearing problems, mild learning disabilities and are usually smaller than average. Women with this disorder are mostly infertile.

Klinefelter’s syndrome

This syndrome is caused by an extra copy of the X chromosome, also referred to as 47, XXY, and only affects boys. Boys with Klinefelter’s syndrome can be learning-impaired, are often larger than average, and most men with this syndrome are sterile.

Triple X syndrome

This syndrome is caused by an extra copy of the X chromosome, also referred to as 47, XXX, and only affects girls. Some girls with triple X syndrome have learning disabilities, others have emotional difficulties and most are larger than average.

XYY syndrome

This syndrome is caused by an extra copy of the Y chromosome, also referred to as 47, XYY, and only affects boys. Boys with this syndrome are often larger than average and often have learning and behavioral difficulties.

Triploidy

This disorder is caused by an additional copy of all 23 chromosomes (so that a total of 69 chromosomes are present) and is associated with severe birth defects. A pregnancy with a child with Triploidy can be dangerous for the mother because it can lead to excessive bleeding after birth and can be associated with the development of cancer. Women who are expecting a child with Triploidy often suffer a miscarriage, and those children who survive usually die within a few months after birth. It is important that the doctor knows about the Triploidy, even if the mother suffers a miscarriage. Around 12 out of 100 miscarriages are due to Triploidy. Making it one of the main causes of miscarriages. The occurrence of Triploidy is not dependent on the age of the mother.

Microdeletion syndrome

Most chromosomal microdeletion syndromes are due to the loss of small chromosomal sections. Mental disabilities and malformations of the organs and the skeleton are the result. Microdeletion syndromes include DiGeorge-syndrome 22q11.2, Prader-Willi, 1p36 , Angelman, Cri-du-chat syndrome, among others.

Microdeletions are usually not inherited from a parent; they arise spontaneously at conception. Unlike Down’s syndrome, which is more common in older mothers, microdeletions occur with the same probability in mothers of all ages.

In many cases, there are no obvious abnormalities in the ultrasound, which indicate microdeletion in the fetus. While many microdeletions only have slight effects on the health and life of a child, there are others that lead to mental disability and birth defects. The Panorama test looks for five microdeletions, all of which are associated with serious health problems:

• DiGeorge syndrome/ Deletion syndrome 22q11.2  (occurs in approx. 1 in 2,000 births). Children born with deletion syndrome 22q11.2 often have heart defects, immune system weakness, and mild to moderate mental impairments. In addition, kidney conditions, problems with food intake and/or seizures can occur.

• Deletion syndrome 1p36 (occurs in approx. 1 in 5,000 births). Children born with 1p36 deletion syndrome have mental disabilities and behavioral problems, weak muscle tone, as well as cardiac and other birth defects. About half of them suffer from seizures.

• Angelman syndrome (occurs in approx. 1 in 12,000 births). Children born with Angelman syndrome are often developmentally delayed (i.e. sitting, crawling and walking), and have seizures. Furthermore, they have severe mental impairments and most of them do not learn to speak.

• Cri-du-chat syndrome (occurs in approx. 1 in 20,000 births). Children born with Cri-du-chat syndrome are moderately to severely mentally handicapped. They usually have a low birth weight, a small head and decreased muscle tone.

• Prader-Willi syndrome (occurs in approx. 1 in 10,000 births). Children born with Prader-Willi syndrome are generally mentally handicapped. They have weak muscle tone. As children and adults, they gain weight rapidly and often develop adiposity-related medical problems.

 Is Panorama™ dangerous for mother and child?

The test is completely safe for both you and your baby. In contrast to other prenatal diagnostics, in which the amniotic fluid is examined by means of a small operation (amniocentesis), your doctor only has to perform a venous blood sampling in order to carry out the Panorama™ test.

 

 *The Panorama™ test is a non-invasive prenatal screening test (NIPT), a blood test.