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Why choose Panorama® test?

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Panorama® provides the most expansive service for the patients, as it follows each pregnancy from the beginning to birth. The basic service entails the screening of Down-, Edwards- and Patau-syndromes, the sex chromosome anomalies and fetal sex determination. The Panorama® test uniquely screens for triplody, mosaicism and vanishing twin.
Panorama® is also available for twin pregnancies from 2017 October. It is the only screening test to determine fetal fraction for both fetuses, to determine fetal gender for both fetuses, as well as to determine whether the pregnancy is mono- or dizygotic.
We provide free of charge genetic consultation pre-sampling and also after you receive your results. Where appropriate we organize the validation of high-risk results with amniocentesis within a week at a private clinic with internationally recognized specialists.
As Panorama® uses next-generation technology, it is the only test to be able to truly distinguish between maternal and fetal DNA. Hence, the accuracy and the sensitivity of the test are exceptionally high and are over 99,99%. http://www.panoramateszt.hu/panoramatest/partners
The Panorama® test is a genetic screening test. Panorama® test is the first and the only one to provide free of charge genetic consultation by clinical geneticists in case it is needed. The consultation is professionally reliable, honest and thorough. The aim of the genetic consultation is to inform parents to be about the risks and the possible procedures so that the couple can make a responsible decision.

What is the Panorama® test?

Panorama® is a prenatal screening test developed by the California-based Natera laboratory, that analyses fetal DNA from maternal blood.

Panorama® determines chromosomal abnormalities that may lead to serious consequences such as Down-syndrome, Edwards-syndrome, Patau-syndrome, sex chromosome abnormalities, as well as triploidy from a single taking of maternal blood sample.
Panorama is also available for twin pregnancies from 2017 October. It is the only screening test to determine fetal fraction for both fetuses, to determine fetal gender for both fetuses, as well as to determine whether the pregnancy is mono- or dizygotic.
This test is non-invasive (does not require instrumental intervention), it gives you a reliable result, and it also accurately determines the gender of the fetus. Panorama® has a lower chance of giving a false positive result compared to other prenatal screening tests. Another advantage of the test is that it can be performed from the 9. week of pregnancy.

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What does Panorama® screen for?

The Panorama® test screens for 13 different serious chromosomal abnormalities that may affect the fetus.

Chromosome number aberrations

  • Down Syndrome (trisomy 21)
  • Edwards Syndrome (trisomy 18)
  • Patau Syndrome (trisomy 13)
  • Triplody

Sex chromosome abnormalites

  • Klinefelter syndrome
  • Triple X syndrome
  • Turner syndrome
  • Jacob syndrome

Microdeletions

  • 22q11.2 deletion / DiGeorge syndrome
  • 1p36 deletion syndrome
  • Angelman syndrome
  • Cri-du-chat syndrome
  • Prader-Willi syndrome

+ fetal gender determination (upon request from completed 12. week)

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Chromosome abnormalites

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Triploidy
Children with Down syndrome have 3 copies of chromosome 21 instead of the normal 2 copies. This causes a mild or even a moderate intellectual disability. Children with Down syndrome may need an increased state of medical supervision according to the severity of their symptoms. Early diagnosis allows patients to live an almost full life. The disease affects the life expectancy of children and grown-ups. Thirty per cent of miscarriages are due to Down syndrome, while 1 in 600 live births is affected by the disease.
Children with Edwards syndrome have 3 copies of chromosome 18 instead of the normal 2 copies. In consequence, they may have severe intellectual retardation and birth defects of the heart, brain and kidneys. Some of the visible consequences of the disease are cleft lip and cleft palate, a smaller skull, club-foot, missing fingers and toes, as well as a smaller jaw. Most pregnancies affected by trisomy 18 end in a miscarriage, but in case of a live birth, the newborn only survives the first few weeks of life. One in 3000 live births is affected by trisomy 18.
Children with Patau syndrome have 3 copies of chromosome 13 instead of the normal 2 copies. In consequence, they may have severe intellectual retardation and birth defects of the heart, extra fingers and toes, a cleft palate and cleft lip, moreover brain and spinal cord problems and a weak musculature. Due to the severe abnormalities in children affected by trisomy 13, most pregnancies end in a miscarriage, but in the case of a live birth, the newborn only survives the first few weeks of life. One in 5000 live births is affected by Patau syndrome.
Triploidy occurs when instead of the normal chromosome set (2x23 chromosomes) an extra set of chromosomes are present (3x23). One in 1000 pregnancies is affected by triploidy. In most cases, the early pregnancy is terminated by a spontaneous abortion of the embryo. In case of a live birth severe developmental aberrations can be seen of the heart, brain, kidneys, arms and legs, face and head, moreover, the newborn only survives the first few days of life. Triploidy can also be dangerous for the mother of an affected fetus. There may be several complications such as preeclampsia (a syndrome entailing high blood pressure through pregnancy, albuminuria and oedema), severe bleeding after giving birth, molar pregnancy (placenta forming into a benign tumour), or pregnancy trophoblastic disease (malignant lesion of the chorion tissue). Being informed about triploidy allows the specialists to give the appropriate treatment.

Sex chromosome abnormalities

  • Jacob syndrome (XYY)
  • X-monosomy (Turner syndrome)
  • Triple X syndrome (XXX)
  • Klinefelter syndrome (XXY)
Fetuses with XYY sex chromosomes are boys with an extra Y chromosome. In most cases this does not cause birth defects, on the other hand, children with the extra chromosome may have a higher height, and learning-, speech and behavioural difficulties may also occur. One in 650 live births is affected by Jacob syndrome.
Babies with X monosomy are girls with only 1 chromosome X, instead of the normal 2 chromosomes. In the first and second trimesters of pregnancy, there is a great chance of spontaneous abortion in fetuses affected by X monosomy. In case of a live birth heart defects, learning difficulties and infertility may occur. Most girls affected by Turner syndrome need increased medical care (eg. hormone therapy).
Girls with Triple X syndrome have an extra copy of chromosome X, 3 altogether. The affected girls may have increased height, learning and behavioural difficulties. About 1 in 800 live births are affected by Triple X syndrome.
Newborn boys affected by Klinefelter syndrome have an extra copy of chromosome X. They may be affected by infertility, learning and behavioural difficulties. About 1 in 1000 live births are affected by Klinefelter syndrome.

Microdeletions

  • Prader-Willi syndrome
  • 22q11.2 deletion
  • Angelman syndrome
  • Cri-du-chat syndrome
  • 1p36 deletion syndrome
Newborns affected by Prader-Willi syndrome are born with low birth weight, weak muscle tone and feeding problems, which may also worsen into a state where artificial feeding is necessary. The affected persons have intellectual disabilities, underdeveloped genitals, late or no puberty. Due to the lack of satiety feeling and the regular consumption of large amounts of food people with Prader Willi gain weight rapidly, leading to childhood and adulthood obesity along with the associated health issues (diabetes, cardiovascular diseases). The disease is developed due to the deletion of paternal chromosome 15, or the maternal uniparental disomy of chromosome 15. (The disease occurrence may also have other, non-chromosomal reasons, such as epigenetic changes and mutations). One in 10 000 live births is affected by Prader-Willi syndrome.
22q11.2 deletion, or DiGoerge syndrome is characterized by cardiac development defects, immune system problems, defects of the parathyroid gland and mild intellectual disability. Commonly kidney and gasrtointestinal problems as well as epilepsy may also manifest. DiGeorge syndrome develops due to the breakage and loss of a specific part of chromosome 22. One in 2000 live births are affected by DiGeorge syndrome. In some cases of the disease, autisms spectrum disorder or schizophrenia may also develop.
Angelman syndrome is characterized by heart developmental defects, immune system problems, defects of the parathyroid gland and a mild intellectual disability. Commonly kidney and gastrointestinal problems, as well as epilepsy, may also manifest. Angelman syndrome develops due to the maternal loss of a small part of chromosome 15, or both chromosomes are inherited from the father (uniparental disomy). The disease occurrence may also have other, non-chromosomal reasons, such as epigenetic changes and mutations. One in 12 000 live births is affected by Angelman syndrome.
Cri-du-chat syndrome is caused by the breakage and loss of a small part of chromosome 5, also known as 5p minus syndrome. The name „Cri-du-chat” refers to the high-pitch, cat caterwaul-like crying that is so characteristic of the disorder. Despite a normal pregnancy, the affected are born with lower birth weight, weaker muscle tone, smaller head. The genetic disorder is characterized by moderate or severe intellectual disability, feeding and breathing problems and indigestion. One in 20 000 live births is affected by DiGeorge syndrome.
1p36 deletion syndrome is characterized by weak muscle tone, cardiac and other birth defects, mental reatrdation, behavioral problems. In half of the cases, epileptic seizures are also common. The disorder is caused by the breakage and loss of a part of chromosome 1. One in 5000 live births are affected by 1p36 deletion syndrome.

Fetal screening and testing options

Expecting parents have numerous opportunities to use different diagnostic tests to exclude chromosomal abnormalities of the fetus during pregnancy. Ask your specialist for the best prenatal test for you. The advantage of non-invasive screening (ultrasound and maternal blood-based tests) is the fact they do not cause miscarriage.
Magzati szűrési és tesztelési lehetőségek
A Panorama teszt

Panorama® test

Panorama® test is a new type of non-invasive prenatal screening test. Panorama® screens fetal DNA circling in maternal blood with a single taking of blood from the mother. This test detects common chromosome abnormalities with an incomparably large accuracy compared to conventional combined tests.

Hagyományos kombinált  tesztek

Conventional combined tests

The traditional screening tests in the first trimester analyse hormones and other biochemical markers from maternal blood and are also complemented with ultrasound screening. Based on these results it is possible to determine a probability of a certain chromosome abnormality (primarily trisomy 21, Down syndrome).

Ultrahangos vizsgálat

Ultrasound screening

Both first and second-trimester ultrasound screening gives detailed information about fetal size, hence defects due to chromosome aberrations can be detected. Any type of size anomaly of the fetus may refer to abnormality due to chromosome aberrations, on the other hand, normal fetal size decreases the chance of such defects.

The so-called invasive procedures, such as chorion biopsy or amniocentesis, are used to directly detect chromosome abnormalities, and on average have a 0,5% risk of miscarriage. This means that 1 in 200 procedures ends in an abortion of the fetus.

Invasive diagnostic procedures

  • Chorionic villus sampling
  • Amniocentesis
Chorionic villus sampling (chorion biopsy) is usually carried out between weeks 10 and 12 of pregnancy. During this procedure, a thin biopsy needle takes a sample of placenta cells and are analysed for fetal chromosome aberrations.
Amniocentesis is usually carried out in the 15. week of pregnancy. During this procedure, a special needle is inserted into the amniotic cavity through the mother's abdominal wall and muscles of the womb to collect a few millilitres of amniotic fluid. The fetal epithelial cells in the amniotic fluid are analysed for several chromosomal aberrations.

Advantages of the Panorama® test

The Panorama® test is recommended for any expecting woman of any age who would like to know more about the health of their fetuses. It is a known fact, that expecting women over 35-years-of-age have a larger risk of a chromosome abnormality, eg. Down syndrome. Moreover, Panorama test optionally also screens for microdeletions, which are quite common chromosome defects, but their risk does not depend on maternal age.

To date, Panorama® test is not available in the following cases:
-Pregnancies where the mother have had bone marrow transplantation
-Twin pregnancies, where donor eggs have been used

A Panorama teszt előnyei

Twin pregnancies

Panorama® test is now available in twin pregnancies and in case of egg donations.
Panorama® offers expansive screening options in twin pregnancies.

Only Panorama® can detect:
- whether the twin pregnancy is mono or dizygotic
- the unique fetal fractions for both fetuses, which is necessary for an accurate result
- fetal gender for both fetuses
- sex chromosome abnormalities in monozygotic twin pregnancies

Ikerterhesség

What information do the test results give you?

Panorama® has an extremely high accuracy, above 99.4%, which aids the detection of fetal chromosome abnormalities.

  • Low risk
  • High risk
  • No results
A low-risk result indicates that it is very unlikely that the fetus is affected by one of the conditions on the Panorama® panel. Moreover, it has to be noted that a low-risk result does not guarantee a healthy pregnancy. It is important to know that, like other prenatal screening tests, the Panorama test is not a diagnostic test, it only gives information about the previously mentioned disorders.
In case of a high-risk result for a given chromosomal aberration does not necessarily mean that the fetus is affected by the disorder, but that it has a higher risk of being affected. In such case, it is recommended to consult with a human geneticist to fully understand the results, as well as discussing the importance of a following clinical diagnostic procedure.
In a small percentage of cases, Panorama® may not be able to obtain sufficient information from your blood sample to determine an accurate result. If this occurs, a second blood sample may be requested. The retake of the Panorama test is free of charge and is financed by our laboratory.

Panorama® test less often, compared to other screening methods, may show a high-risk result for a healthy fetus (false positive result) or may show a low-risk result for chromosomal aberrations (false negative), therefore it is necessary to consult with a specialist after receiving the results.

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I am interested, please give me more information!