Prevent unnecessary amniocentesis

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Complete

Trisomies 21, 18, 13 - Sex chromosomes abnormalities - Microdeletions - Developing baby’s sex - Electronic Karyotype

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Accurate

Sensitivity 99,9%, Specificity 99,8% - Test failure < 0,1% - Fetal fraction calculation - Swiss quality

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Early

Fetal fraction > 4%: from the 10th week of pregnancy (12th for twin pregnancies)

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Safe

Sample required is a standard maternal blood drawReduce the number of amniocentesis

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Convenient

Suitable for all types of pregnancies (Singleton and twin pregnancies, IVF) - Sample required is a standard maternal blood draw - Genoma Pro Interface for patient data and result reports

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Fast

Results are issued within 3.5 working days in average from sample reception

American College of Obstetricians and Gynecologists Committee on Genetics

The Royal College of Obstetricians & Gynaecologists opinion is that, in time, this technology is likely to become the primary screen for chromosomal abnormalities in pregnancy.

Circulating fetal DNA analysis ensures high reliability

Small fragments of genetic material, called cell-free DNA, circulate freely in every person’s bloodstream. In a pregnant woman, cell-free DNA includes not only maternal DNA but also fetal DNA from the 5th week of pregnancy, in a quantity between 2-40%, called fetal fraction (on average around 10%). This cell-free fetal DNA originates from the shedding of placental cells, and is continually released into the pregnant woman’s bloodstream. Fetal fraction) in the mother’s bloodstream increases during the second and the third trimester. Within a few hours after birth, cell-free fetal DNA is no longer detectable in the mother’s blood.

Today it is possible to analyze with high reliability the cell-free fetal DNA in the mother’s bloodstream when it is present in a percentage of at least 4%. This generally happens after the 10th week of gestation, allowing cell-free fetal DNA analysis from a standard maternal blood draw.

Cell-free DNA fragments are sequenced and identified by comparison to the human genome of reference. An aneuploidy in a pregnancy is detected when the calculated number of a chromosome is different than expected. Studies in pregnancies at high risk for trisomies have demonstrated that analysis of maternal blood cell-free DNA can detect 99,9% of affected cases at a false-positive rate of 0,1%.

Tranquility ensures very low false result rates: a true advantage compared to combined first-trimester screening

With Tranquility, the likelihood of having a false positive or a false negative result is extremely low. This accuracy is of utmost importance for the familly because, in case of negative results, Tranquility allows the mother to avoid an unnecessary amniocentesis, a procedure with a risk of miscarriage. If the result is positive, a diagnostic procedure should be considered for confirmation.

High Detection Rate 99.9%
Tranquility is highly effective to avoid false negative results

False Negative
The chromosomal disorder is not detected despite the baby is affected.

Low False Positive Rate <0.2%
Tranquility is highly effective to avoid false positive results

False Positive
Leads to unnecessary and risky amniocentesis despite the baby is not affected.

TRISOMY SENSITIVITY SPECIFICITY FREQUENCY
Trisomy 21
(Down syndrome)
99.9% 99.8% 1/700
Trisomy 18
(Edwards syndrome)
99.9% 99.9% 1/5’000
Trisomy 13
(Patau syndrome)
99.9% 99.7% 1/16’000
XXX, XYY, XXY, or X0 (monosomy X)
(Trisomy X, Jacobs syndrome, Klinefelter syndrome, Turner syndrome)
99.9% 96.9% -

Tranquility is more reliable than the current combined screening

Currently diagnostic protocols consist of the combined first- trimester screening (based on serology testing and nuchal translucency) followed by an invasive procedure (amniocentesis or chorionic villus sampling (CVS)) if it is positive. The lack of reliability (T21 sensitivity = 85%, T21 specificity = 95%) of this first screening test results leads to invasive procedures that could have been avoided.

Prevalence of Down’s syndrome 0,236%; Combined test - Detection Rate (DR) = 85%, False Positive Rate (FPR) = 5%; Tranquility - DR = 99,9%, FPR = 0.16%

Tranquility provides fast and clear results report

On average, in 3.5 working days from receipt of your sample in our laboratory, Genoma delivers the most accurate and comprehensive analysis of the fetus genome.

Singleton Pregnancies

Tranquility results report if a chromosomal aneuploidy or/and a microdeletion have been detected. If requested and if permitted by local regulations, the information about the fetal sex will be specified.

Twin Pregnancies

Tranquility results report if a trisomy 21, 18 or 13 has been detected in at least one of the fetuses. If requested and if permitted by local regulations, the presence of two females or of at least one male will be reported.

Fetal Fraction

Fetal fraction is measured and reported.

Test Results

No Aneuploidy Detected

Tranquility identified the expected number of copies of chromosomes.

Aneuploidy Detected

Tranquility identified too many or too few copies of one of the chromosomes analysed (trisomy 21, 18, 13, XXX, XYY, XXY, or X0 (monosomy X).

High Risk of Microdeletion

Tranquility identified a microdeletion. The genomic position and size of the microdeletion on the chromosome and the medical interpretation, if know, will be provided.

Electronic karyotype from Tranquility: a comprehensive digital representation of all chromosomes

The eKaryotype results are represented in a circular and a karyotype layouts:

  • the circular layout, more commonly called “Circos” shows each 1 Megabasis lecture of the genome (estimated of around 3 000 megabasis). The average is represented with the line. The grey zone identifies a count consistent with two chromosomes (“normal” count), the green zone identifies the presence of extra copy of chromosomes and the red zone identifies a missing copy of the chromosome.
  • For the autosome chromosomes (1 to 22), a healthy person genome is represented by an orange line in the grey zone. For the sex chromosomes, a purple line is representing a girl and a blue is representing a boy.
  • the karyotype layout shows each chromosome chromosome identified is represented.
MALE

FEMALE

Genoma Pro Interface for a secured and easy data exchange

Genoma Pro Interface is the portal dedicated to healthcare professionals enabling the exchanges of patient data and results in a secured manner.

  • Prescriptions can be done online
  • Patient files are managed online
  • Results are received instantaneously
  • Manage your own network
  • Personalize your functionalities
  • Accounting system is integrated

How to join Genoma Network

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Sign Up

Register yourself on Genoma Pro Interface

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Kits

Contact our local customer service “Phone Number” or “Email Address” to get Genoma kits which supply everything needed.

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Register patients

Start registering patients on Genoma Pro Interface.

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Results

You will receive the Results directly on Genoma Pro Interface.

Discover the different features of Tranquility

Product
Maternal blood draw
From the 10th week of pregnancy
Pregnancies: singleton, twin, IVF
Trisomies 21, 18, 13
Sex chromosome aneuploidies
Microdeletions
Baby’s sex
All chromosomes analisys
Circos and electronic Karyotype
5 working days after reception
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Tranquility
Tranquility
Tranquility Karyo
Tranquility Karyo
Detected Disorders

Tranquility accurately detects chromosomal abnormalities causing chomosomal disorders

Numerical abnormalities (aneuploidies): occur when an individual has one extra chromosome instead of a pair (trisomy), or is missing one of the chromosomes from a pair (monosomy).

Trisomie 21 - Down syndrome

This is the most common trisomy at birth, is associated with mild to moderate intellectual disabilities and may also lead to digestive issues and congenital heart defects.

Trisomie 18 - Edwards syndrome

It is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have various medical conditions and a shortened lifespan.

Trisomie 13 - Patau syndrome

It is associated with a high rate of miscarriage. Infants with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare.

Sexual aneuploidies

The sexual chromosomes (X and Y) determine the sex of the baby. The most commonly observed abnormal combinations are XXX, XYY (Jacobs syndrome), XXY (Klinefelter syndrome), and monosomy X (Turner syndrome). The severity of the associated conditions vary significantly, but most individuals have mild, if any, physical or behavioral symptoms.

Structural abnormalities: occur when a chromosomal segment presents a small deletion spanning several genes.

Microdeletion syndromes

Are clinically recognisable disorders characterised by a complex clinical and behavioural phenotype: e.g. Cri du chat.

Aneuploidy Trisomy 21 Trisomy 18 Trisomy 13 XXX XYY XXY Monosomy X
Syndrome Down Edwards Patau Trisomy X Jacobs Klinefelter Turner
Frequency 1/700 1/5000 1/16000 1/1000 females 1/1000 males 1/1000 males 1/2500 females
Trisomies Risk

Advanced mother’s age increases the risk for trisomies 21, 18 and 13

Additionally to genetic predisposition, advanced mother’s age increases the probability of a risky pregnancy. This graphic shows an exponential growth of the risk of certain trisomies along with increasing maternal age.

Brochures & Documents
FAQ

Still have questions about Tranquility?

Explore some common questions below. If you don’t see your question here, get in touch with us.

  • 1. Why is Tranquility a screening test and not a diagnostic?
  • As with all NIPT, the test analyses cell free fetal DNA which is present in the mother’s blood stream. Some biological factors can affect the performance of an NIPT, such as placental mosaicism, vanishing twin, mother’s weight and also infections, cancers and other conditions that require blood transfusions. Therefore, a high risk result may not accurately represent the fetus and must be checked with an invasive diagnostic test such as amniocentesis.

    Tranquility detection rate is higher than 99,9% for the common trisomies trisomy, however for the reasons described above we cap the probability risk scores shown on our test reports to reflect the frequencies of such biological factors and emphasize that Tranquility is a screening test.
  • 2. Can Tranquility be performed at any age?
  • Trisomies can occur in any pregnancy. The risk of having a fetus affected by a trisomy increases significantly along with the mother’s age. Because of this increased risk, mothers beyond a certain age threshold are prescribed an invasive procedure. Non-invasive fetal DNA significantly decreases the number of those risky invasive methods performed automatically.

    Fetal DNA tests provide accurate detection and only require a standard maternal blood draw, it can be prescribed to any pregnant woman as a standard test without concerns.
  • 3. Can Tranquility be used on patients expecting twins?
  • Tranquility is suitable for twin pregnancies. The test cannot tell which twin is high risk. If a high risk result is generated, selective invasive confirmatory testing would be required.
  • 4. What is the recommendation for patients with “aneuploidy detected”?
  • All “Aneuploidy detected” or “High risk for Microdeletion detected” results are sent to the healthcare professional who should review those with the patients to determine the right action to be taken. Before any induced abortion a diagnostic should be done: this is usually an invasive procedure such as amniocentesis or CVS along with appropriate counselling.
  • 5. How is the test result released?
  • The final review and release of a Tranquility report is done by our laboratory director: a genetician registered at the Medical Laboratories of Switzerland.
  • 6. Can the results report be given directly to pregnant women?
  • For an online purchase: it depends on local regulation. In countries where this is allowed, the patient chooses whether she wants to receive the report or her healthcare professional to receive it. In any case, only “No Aneuploidy detected” results will directly be sent to the patients. All “Aneuploidy detected” or “High risk for Microdeletion detected” results are sent to its healthcare professional. The healthcare profesional will always receive a copy of the report on its Genoma Pro Interface.

    If Tranquility is bought through a provider, the results will be sent on its Genoma Pro interface.
  • 7. How long do the results take?
  • Results should be available on average of 3.5 working days after reception of the sample at the laboratory. Results are available on the healthcare professionals Genoma Pro Interface directly with healthcare professionals who requested the test.
  • 8. Can Tranquility be used on pregnant women who have cancer?
  • Malignant tumors discard cell-free DNA fragments which can interfere with Tranquility potentially giving an erroneous result.
  • 9. Can Tranquility be used on pregnant women who have had a blood transfusion?
  • There is a lot of debate around how long blood stays in the body which has come from a blood transfusion. Solely, we take the cautious approach to recommend that the woman should not have had a blood transfusion within the last 3 months.
  • 10. Can Tranquility be used in a pregnancy that follows a fetal loss and does the previous pregnancy result affect the test result?
  • Previous pregnancies would not affect the test result. Cell-free DNA discard from the placenta disappears hours after the pregnancy is over.
  • 11. What blood tube should be used for sending samples?
  • Everything needed is provided in Tranquility kit to perform the blood collection and the sample shipment.
  • 12. What do I need to get started?
  • Create an account on Genoma Pro Interface and contact our local customer service email & phone number who will be pleased to guide you out.
References
  • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007:109:217–227.
  • Agence de la biomedicine. Mars 2013
  • American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012:120:1532–1534.
  • Benn P, Borell A, Chiu R, et al. Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2013;33:622–629.
  • C. Ogilvie, and R. Akolekar. Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk. J Clin Med. 2014 Sep; 3(3): 741–746.
  • Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns. 2013:22:291–295.
  • GreggAR, GrossSJ, BestRG, etal. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013:15:395–398.
  • http://carta.anthropogeny.org/moca/topics/sex-chromosome-aneuploidies. Accessed February 21, 2013
  • Jones, K. L., & Smith, D. W. (1997). Smith’s recognizable patterns of human malformation. Philadelphia: Saunders.
  • KH Nicolaides, NJ Sebire, RJM Snijders, RLS Ximenes & G. Pilu. The 11-14-week scan. http://sonoworld.com/Client/Fetus/html/11-14week/chapter-01/chapter-01-final.htm
  • Kypros H. Nicolaides, MD. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. American Journal of Obstetrics and Gynecology (2004) 191, 45-67
  • Morton, N.E. (1991) Parameters of the Human Genome. Proc. Natl. Acad. Sci. (USA) 88:7474-7476
  • Norton ME, et al Am J Obstet Gynecol.2012 doi:10.1016/j. ajog. 2012.25.021.
  • Palomaki GE, et al. Genet Med. 2012 Mar;14(3):296-305; M. Ehrich communication.
  • Rabinowitz, et al. ASHG Abstract 2012.; Presented data at NSGCAEC 2012.
  • U.S. National Library of Medicine. Genetics Home Reference. Down Syndrome. http://ghr.nlm.nih.gov/condition/downsyndrome. Accessed July 12, 2012.
  • U.S. National Library of Medicine. Genetics Home Reference. Trisomy 18. http://ghr.nlm.nih.gov/condition/trisomy-18. Accessed July 12, 2012.
  • U.S. National Library of Medicine. Genetics Home Reference. Trisomy 13. http://ghr.nlm.nih.gov/condition/trisomy-13. Accessed July 12, 2012.