Panorama 22q11 test

The Panorama 22q11 test is currently one of the most reliable, safe and accurate screening tests for chromosomal diseases based on a DNA single nucleotide polymorphism, which makes it possible to detect DiGeorge syndrome in the mother's venous blood in addition to Down, Edwards, and Patau syndrome and triploid syndrome, all of which strongly affect the child's health. They cause mental retardation, heart and breathing problems, immune and nutritional problems, and other disorders that may require immediate postnatal intervention.

22q11.2 microdeletion syndrome, or DiGeorge syndrome, is the most common deletion syndrome in humans, occurring in approximately 1:2000 – 1:4000 live births. DiGeorge syndrome is the second most common chromosomal pathology causing congenital heart defects in the fetus, only behind Down syndrome in this regard. These two syndromes are also similar in other respects, as both have many signs of illness, including poor muscle tone. Children with DiGeorge syndrome often suffer from heart failure, immune system problems, and mental retardation, ranging from mild to moderate. They may also have bilateral renal pelvic dilation, limb or spinal pathologies, feeding problems and/or seizures, and schizophrenia.

The Panorama 22q11 test is currently one of the most reliable prenatal screening tests in the world for the detection of fetuses with DiGeorge syndrome.

The incidence of DiGeorge syndrome is independent of a woman's age. Conventional NIPT tests are more sensitive in identifying chromosomal disorders in older women, and therefore there are more screening-negative results (meaning that the child is sick, but the NIPT test shows a low risk). The advantage of the Panorama test over other NIPT tests in particular is the fact that its sensitivity in recognizing chromosomal diseases does not depend on the age of the woman, and is equally good for both younger and older pregnant women.

TThe Panorama 22q11 test can be used in women who carry  twins that have one placenta (identical twins).

Performing the Panorama22q11 test.
 

• For the Panorama22q11 test, only the mother's venous blood analysis is required.
• The Panorama22q11 test is carried out for those whose pregnancy has lasted for at least 9 full weeks (9 weeks + 0 days). If you would like to know the duration of your pregnancy, please visit our  pregnancy calculator.  
• With the test, it is also possible to find out the sex of the fetus if you wish.
• The test result are received within 14 days of the blood test.

The price of the test include a very early ultrasound examination of fetal developmental defects.

Very early fetal developmental ultrasound with the  NIPT tests is the most accurate combined prenatal screening method for the early detection of children with chromosomal diseases. The purpose of an ultrasound scan is to first determine the size of the pregnancy, to assess the presence and type of a possible multiple pregnancy, and then to exclude situations in which the NIPT test should not be performed. Since the NIPT test cannot detect structural developmental defects in a child, the objective of the ultrasound examination of very early developmental defects in the fetus is to exclude 10 severe developmental defects in the child.