Avoid 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

High detection rate - Fetal fraction calculation - Swiss quality

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Early

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

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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.

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.

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

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.

Non-Invasive Prenatal Test (NIPT) analyses the developing baby’s DNA for numerical and structural chromosomal abnormalities

During pregnancy, cell-free fragments of the developing baby DNA circulate in the mother’s blood. Fetal DNA is detectable from the 5th week of gestation and its concentration increases during the weeks that follow. The amount of fetal DNA present in the mother’s bloodstream from the 10th week of gestation (12th week of gestation for twin pregnancies) is suficient to perform the test and guarantee the accuracy of the results.

Current conventional approach

Currently diagnostic protocols consist of the combined first- trimester screening (based on serology testing and nuchal translucency) followed by amniocentesis if it is positive. The lack of reliability of this first screening test results leads to invasive procedures that could have been avoided.

Every year, thousands of miscarriages are provoked by amniocentesis, resulting in the loss of a baby that is often not carrying any chromosomal abnormality.

Tranquility ensures very low incorrect result rates

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.

Tranquility is more reliable than the current combined screening

The current diagnostic protocol consists of the combined first-trimester screening, followed by an invasive procedure (amniocentesis or chorionic villus sampling (CVS)) in case of positive findings.

The first-trimester screening combines the result of different parameters:

- Age of mother
- Nuchal translucency (ultrasound measurement of fetal neck fold)
- Serology testing (PAPP-A and free ß-hCG)

Chorionic villus sampling (CVS)

It is an invasive diagnostic test that introduces a long needle to extract a sample of the chorionic villus (placental tissue) to be tested for a number of diseases. This test is usually performed at 10-12 weeks of pregnancy.

This procedure causes distress for the mother and for the family and it has an associated risk of miscarriage estimated at 1-2%.

Amniocentesis

It is an invasive diagnostic test that introduces a long needle to extract a sample of the amniotic fluid surrounding the developing baby in the womb. Amniotic fluid contains cells shed from the developing baby that can be examined and tested for a number of diseases. This test is usually performed at 15-20 weeks of pregnancy.

This procedure causes distress for the mother and for the family and it has an associated risk of miscarriage estimated at 1%.

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 your developing baby’s genome.

Singleton Pregnancies

Tranquility results report if a chromosomal aneuploidy or/and a microdeletion have been detected. If you requested it and if permitted by local regulations, the information about the sex of your baby 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 you requested it 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.

Your healthcare provider will assist you to understand the report and provide the appropriate medical interpretation.

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

Only Three Steps away from Results

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Consultation

Your healthcare provider will help you to fill-out the test requisition form and make sure that you have all the necessary information to sign up the informed consent.

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Collection & Shipment

You will find in your kit the help and necessary items to perform and ship the sample collection. The sample shipment is fast and entirely covered by Genoma.

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Results

You will receive the Results within few days.

Discover the different features of Tranquility

Product
Maternal blood draw
From the 10th week of pregnancy
Singleton pregnancies
Twin pregnancies
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
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 should I choose Tranquility? How accurate is it?
  • Tranquility provides reliable answers and is more accurate than traditional methods (biochemical screening test). Based on DNA analysis with New Generation Sequencing technology, Tranquility ensures a sensitivity (true positive rate) 99,9% for trisomy 21 (vs. 79% for traditional methods First trimester diagnosis and screening for fetal aneuploidy Deborah A. Driscoll, MD1 and Susan J. Gross, MD2, for the Professional Practice and Guidelines Committee).

    Standard screening tests fail to detect trisomy 21 in more than 15% of cases. The calculation of the fetal fraction ensures the reliability of the results. The amount of unnecessary amniocentesis is significantly reduced.
  • 2. How does the Tranquility test works?
  • Small fragments of genetic material called cell-free DNA, circulate freely in every person’s bloodstream. When you are pregnant, cell-free DNA includes not only maternal DNA but also fetal DNA from the 5th week of pregnancy.

    With a simple blood draw, Tranquility analyzes the cell-free DNA that circulates in the expecting mother’s bloodstream and detects the presence of most common chromosomal disorders. These include trisomy 21, 18 and 13, sexual aneuploidies and microdeletions. Tranquility also detects the sex of the fetus.
  • 3. Is Tranquility easy to perform compared to traditional screening test?
  • A simple blood draw is needed: your blood sample can be drawn at your doctor’s office, as early as from the 10th week of gestation (12 weeks for twin pregnancies).
  • 4. Is Tranquility easy to perform compared to traditional screening test?
  • A simple blood draw is needed: your blood sample can be drawn at your doctor’s office, as early as from the 10th week of gestation (12 weeks for twin pregnancies).
  • 5. Who should have Tranquility prenatal test?
  • Any pregnant woman can perform Tranquility as a standard prenatal test without concerns as early as the 10th week of pregnancy and the 12th week for twin pregnancies. This means that whether you are carrying one or 2 babies or you had an in vitro fertilization (IVF) you can perform Tranquillity.

    Factors that may affect the performance of the test are confined placental mosaicism, vanishing twin, mother’s weight and also infections, cancers and other conditions that require blood transfusions.
  • 6. What kind of technology is used to perform Tranquility test?
  • Tranquility developed its own protocol to screen cell-free DNA based on whole genome Shotgun sequencing strategy using Next-Generation Sequencing (NGS).

    Tranquility workflow has been optimally automatized to certify consistency and reproducibility of results.

    Genoma’s world-class expertise with NGS and the company’s proprietary bioinformatics platform (InKaryo) ensures high analytical performance.
  • 7. What are Tranquility quality standards?
  • Tranquility complies with the most stringent quality standards, laws and directives in the EU and Switzerland. Swiss Quality. Tranquility collection kit includes a gel pack and thermal insulation for better sample protection.
  • 8. When can I perform Tranquility?
  • You can perform Tranquility as early as 10 weeks into your pregnancy with a simple blood draw (12 weeks for twin pregnancies).
  • 9. How long does Tranquility take?
  • Tranquility is a simple blood test that takes a couple of minutes at your healthcare provider office.
  • 10. I am expecting twins: Can I get Tranquility prenatal test?
  • Yes, you can complete Tranquility in twin pregnancies since week 12th.
  • 11. I am expecting a baby through IVF: can I get Tranquility prenatal test?
  • Yes, you can complete Tranquility in pregnancies conceived through in vitro fertilization (IVF).
References & Disclaimers
  • 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.
Limitations of Test

This test is designed to detect numerical and some structural chromosomal abnormalities and is validated for chromosomes 21, 18, 13, X and Y. The test is validated for singleton and twin pregnancies with gestational age of at least 10 weeks and 12 weeks respectively. Genetic counseling before and after testing is recommended. The results issued for this test do not eliminate the possibility that this pregnancy may be associated with other chromosomal or subchromosomal abnormalities, birth defects, and other complications. A ‘No Aneuploidy Detected’ result does not preclude the presence of chromosomal abnormalities such as trisomy 21, trisomy 18, trisomy 13, XXX, XYY, XXY, or X0 (monosomy X) and microdeletions (false negative result).

Results of ‘Aneuploidy Detected’ or ‘High Risk of Microdeletion Detected’ are considered positive. In order to obtain a definitive diagnostic the patient should perform an invasive procedure like chorionic villus sampling or amniocentesis. There is a small possibility of false positive result (an ‘Aneuploidy Detected’ or a ‘High Risk of Microdeletion Detected’ report result in a chromosomally normal fetus) due to the abnormal presence of specific DNA circulating in the mother’s blood. These conditions include: confined placental mosaicism, vanishing twin and constitutional or acquired maternal anomaly. When an ‘Aneuploidy Detected’ result is reported in a twin pregnancy, the status of each individual fetus cannot be determined.

In twin pregnancies, if the fetal sex information has been requested, then the test will report if at least one male has been detected or if both fetuses are female. Limited number of data available for twin pregnancies precludes test performance calculations. A "High risk for microdeletion" will be detected only if those conditions are met: Cri-du-chat region (5p deletion): 9% fetal fraction (FF) & 20 MB deletion; Digeorge region (22q11 deletion): 9% FF & 10 MB deletion; Prader-Willi/Angelman region (15q11 deletion): 4% FF & 10 MB deletion; 1p36 deletion: 4% FF & 10 MB deletion. There is a small possibility of false positive results due to a low-coverage of sequencing in that particular region.