NIPT “Panorama”

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“Panorama” is the most accurate NIPT test available on the market. To achieve a high level of accuracy, a unique single nucleotide polymorphism (SNP) based technology is used.

Non-invasive foetal prenatal screening NIPT “Panorama”

“Panorama” is the most accurate NIPT test available on the market. To achieve a high level of accuracy, a unique single nucleotide polymorphism (SNP) based technology is used.

NIPT "Panorama" offered by GenEra can also be performed in the case of twin pregnancy and artificial fertilisation (donated egg).

This is a non-invasive, harmless, and safe screening of the most common foetal chromosomal abnormalities from the 10th week of pregnancy. The test analyses the free DNA of the placenta, which circulates in the pregnant woman’s blood.

Why choose NIPT “Panorama”? 

Advantages of NIPT “Panorama” over other non-invasive prenatal pregnancy screening (NIPT) tests:

  • “Panorama” detects conditions that other tests can’t, including molar pregnancy, triploidy, and the vanishing twin;

  • “Panorama” Down syndrome screening results are more than 99% accurate;

  • “Panorama” is the only test that distinguishes between maternal and foetal DNA, which helps to avoid false positives and false negatives;

  • “Panorama” is the only NIPT in which zygosity, sex of both foetuses, and individual calculation of the foetal fraction for each twin (dizygotic twins) can be observed during twin pregnancy;

  • “Panorama” test has the highest sensitivity to 22q11.2 deletion syndrome, which can affect all pregnancies in the same proportion, regardless of the mother’s age;

  • “Panorama” can be performed in single, twin, artificial fertilisation, and surrogate mothers.

The most important thing in any pregnancy is reliability

  • More than 2 million women in more than 60 countries have specifically chosen “Panorama”;

  • The test was evaluated in 23 comparative studies of more than 1.3 million pregnancies;

  • “Panorama” does not pose a risk to the baby compared to, for example, amniocentesis.

 

The following risks to the foetus are identified as part of the screening:

  • Trisomy 21 — Down syndrome,

  • Trisomy 18 — Edwards' syndrome,

  • Trisomy 13 — Patau syndrome,

  • X monosomy — Turner syndrome,

  • Triploidy, molar pregnancy.

Compared to the first-trimester screening, NIPT has a higher sensitivity and a significantly lower number of false-positive results in determining the most common aneuploidies. Higher PPV (positive predictive value) = less stress to the patient.

NIPT "Panorama"

In the case of twin pregnancies, in addition to the above-mentioned, also the following parameters are tested, which will make it easier for the gynaecologist to manage the pregnancy:

  • Zygosity

  • Individual calculation of the foetal fraction for each twin

  • Sex of each twin

  • Possibility of X monosomy for each twin

The test is not informative in cases of pregnancy with so-called vanishing twins or pregnancies with more than 2 foetuses, as well as twin pregnancies that have occurred through egg donors.

There are three different NIPT “Panorama” tests:

  1. Standard — non-invasive prenatal test (NIPT) “Panorama”: - trisomy 13, 18, 21, sex chromosome aneuploidy, triploidy
  2. Extended 1 — non-invasive prenatal test (NIPT) “Panorama” - trisomy 13, 18, 21, sex chromosome aneuploidy, triploidy + 22q11.21 (DiGeorge syndrome) chromosome deletion;
  3. Extended 2 — non-invasive prenatal test (NIPT) “Panorama”:  - trisomy 13, 18, 21, sex chromosome aneuploidy, triploidy + microdeletions: 22q11.2 (DiGeorge syndrome), 1p36 deletion syndrome, Angelman syndrome, Prader-Willi syndrome, Cri-du-chat syndrome.

Chromosomal abnormalities detected during the examination:

Trisomy 21                                                                                                                                            
The cause of the pathology is an excess chromosome 21. This is called Down syndrome. This is the most frequent pathology that results in genetically induced mental retardation. The incidence of Down syndrome is 1 in 830 live births. Individuals with Down syndrome have a reduced IQ up to 50 and may have congenital heart and other organ defects that could require surgery. Some patients with this syndrome have hearing or vision problems.

Trisomy 18
The cause of the pathology is an excess chromosome 18. This is called Edward’s syndrome. The incidence of Edward’s syndrome is 1 in 7500 live births. Edward’s syndrome is characterized by severe mental retardation. Children with this syndrome have severe damage to the brain, heart, and other internal organs. Foetal growth retardation occurs during pregnancy, often resulting in miscarriage, premature birth, or stillbirth. Most of the babies survive for less than a year. Children who do survive beyond that age have severe mental, growth, and developmental retardation.

Trisomy 13
The cause of the pathology is an excess chromosome 13. This is called Patau syndrome. The incidence of trisomy 13 is 1 in 22,700 live births. The Patau syndrome is characterized by severe mental retardation. Most babies with trisomy 13 have multiple congenital brain and internal organ defects. Most of these babies survive for less than a year.

Monosomy X
The cause of the pathology is a missing X chromosome. This is called Turner syndrome. This syndrome occurs only in girls — 1 in 5000 live births. Girls with X monosomy are shorter than their peers, some have kidney or heart defects, and some have difficulty learning. These girls are prescribed growth hormone therapy in childhood and hormone replacement therapy during puberty. In adulthood, these girls are often infertile.

Triploidy
The cause of the pathology is an additional set of all chromosomes. Changes are common in both the placenta and the foetus. Such pathology is found in 1 in 1000 first-trimester pregnancies. Most foetuses with triploidy are aborted or stillborn. In rare cases, children with triploidy are born, but most survive for less than a year. The mother is more likely to have pregnancy complications such as preeclampsia, bleeding, severe toxicosis, and placental illness.

An extended examination may include:

22q11.2 deletion (DiGeorge syndrome)
The 22q11.2 deletion syndrome is caused by the absence of a small fragment of chromosome 21. It is found in 1 in 2000 new-borns. Most children with this syndrome have mild to moderate mental retardation and may have delayed speech and language development. Many have congenital heart defects, immune system disorders, and other health problems. Some patients with this syndrome develop autism spectrum disorders or psychiatric disorders such as schizophrenia.

1p36 syndrome
This syndrome is caused by the absence of a small fragment of chromosome 1. It is found in 1:5000 people. The children have moderate to severe developmental disorders. Many have congenital heart defects, and many have seizures/epilepsy, behavioural problems, some have visual/hearing impairment.

Cri-du-chat syndrome (5p-)
This syndrome is caused by the absence of a small fragment of chromosome 5.  It is found in 1:20,000 new-borns. These new-borns are usually small in size, with a small head circumference (brain size). Breathing and eating difficulties are the common complications. This syndrome is characterized by severe mental retardation.

Angelman syndrome. (15q11.2 deletion)        
Angelman syndrome develops if a patient lacks a fragment of chromosome 15, or inherits both chromosomes 15 from one parent. It is found in 1:12,000 new-borns. These children have eating problems, severe mental and motor retardation, most have low brain volume, and many also experience seizures. Most children have speech disorders. The symptoms range from very mild to very severe.

Prader-Willi syndrome (15q11.2 deletion)
Prader-Willi syndrome develops if a patient lacks a fragment of chromosome 15, or inherits both chromosomes 15 from one parent. It is found in 1:10,000 new-borns. These children have weak muscle tone, usually intellectual and eating disorders, delayed motor and language development. The symptoms range from very mild to very severe.

NIPT testing is recommended, if:

  • The pregnant woman is older than 35

  • The woman has a history of pregnancies with trisomies

  • Biochemical test or USS results deviate from what is normal for the stage of pregnancy

  • And for every pregnant woman who wants to use a safe method to test the health of her unborn baby.

NIPT testing process:

  • We need 2 tubes of maternal peripheral blood and completed documentation (referral and test consent form).

  • Samples on the same day (or the next day at the latest) are sent to “Natera”, a US company that offers NIPT “Panorama” testing. (Because of this, the test is performed ONLY by prior appointment to ensure that the samples are shipped in time).

  • The samples are tested for the above pathologies only. Sex chromosome trisomies (XXY, XXX, and XYY), if detected, are also included in the testing report. Random finds are not included in the testing report.

  • Results will be available within an average of 13 working days (the shipping time must be taken into account). The results are received by the person/-s specified in the referral or testing request (physician and/or patient). It is important that the results are unchanged — they will be in English.

  Important!

The blood sample for DNA testing can be submitted at any branch of our partner,  - Centrālajā laboratorijā, by calling the GenEra laboratory in advance and agreeing on the desired place and time.

Useful information

  • Referrals, forms, and testing requests accepted at the GenEra laboratory

  • Other useful information for doctors, judges, clients, and patients

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