Basket
Total :-
×
Order now
International
English
Login

Risk-free fetal DNA test early detection of Chromosomal Disorders including Down Syndrome

Safe: Performed on a standard maternal blood draw

Complete: Trisomies 21 (Down syndrome), 18, 13 · Numerical sex chromosomal abnormalities · Microdeletions · Baby’s sex

Accurate: High sensitivity and specificity · Fetal fraction calculation · Swiss quality

Early: From the 10th week of pregnancy (12th for twin pregnancies)

Convenient: Blood sample can be performed any day of the year

Fast: Results are issued within 5 working days from sample reception at our Geneva laboratory

Medical societies agree that all pregnant women should be offered prenatal screening/diagnosis for foetal abnormalities and that NIPT is a major advance in screening methodologies.

Down Syndrome, Trisomies, Chromosomal Disorders… What are those?

Chromosomal numerical abnormalities correspond to the presence of too many or too few copies of a certain chromosome. In a non-affected individual 2 copies of each chromosome are present in his cells. Three copies are called Trisomies (like Trisomy 21 that causes Down's syndrome) and one copy is a monosomy. Tranquility accurately detects these chromosomal abnormalities.

Trisomy 21 (1 in 700 newborns) is the most common trisomy at the time of birth and causes Down Syndrome, which is associated with mild to moderate intellectual disabilities and may also lead to digestive issues and congenital heart defects.

Trisomy 18 (1 in 5,000 newborns) causes Edwards syndrome, which is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have various medical conditions and a shortened lifespan.

Trisomy 13 (1 in 16,000 newborns) causes Patau syndrome, which 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.

Sex chromosome conditions The sex chromosomes (X and Y) determine the gender of every individual. X and Y chromosome-associated conditions occur when there is a missing, extra or incomplete copy of one of the sex chromosomes. The most commonly observed abnormal combinations are XXX, XYY, XXY (Klinefelter syndrome), and monosomy X (Turner syndrome). There is significant variability in the severity of the associated conditions, but most individuals have mild, if any, physical or behavioural symptoms

Down Syndrome Trisomy - 21

1 2 3 4 5 6 7 8
9 10 11 12 13 14 15 16
17 18 19 20 21 22 XX XY
Aneuploidy Trisomy 21 Trisomy 18 Trisomy 13 XXX XYY XXY Monosomy X
Syndrome Down's Edwards Patau Trisomy X Jacobs Klinefelter Turner
Frequency 1/700 1/5000 1/16000 1/10000 1/1000 1/1000 1/2500

Structural abnormalities include a lack or a deletion of a chromosome portion.

Microdeletions occur when a chromosomal segment presents a small deletion spanning several genes. Microdeletion syndromes are clinically recognisable disorders characterized by a complex clinical and behavioural phenotype, and include DiGeorge syndrome, Cri du chat syndrome and Prader-Willi syndrome.

Maternal age is significantly associated with fetal trisomies.

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

The most reliable solution:

100% Safe, High Sensitivity 99.9%, High Specificity 99.8%
Genoma: expert in Next Generation Sequencing (NGS)

Foetal DNA is detectable from the 5th week of gestation. Its concentration increases during the following weeks and disappears after childbirth. The amount of foetal DNA present as from the 10th week of gestation is sufficient to guarantee the high specificity and sensitivity of Tranquility.

Next Generation Sequencing (NGS) or "massively parallel DNA sequencing", one of the most modern genetic analysis technologies available today, is used to count the number of copies of chromosomes. Then, a calculation algorithm determines if there are too many or too few copies of these chromosomes present.

After extraction and sequencing of DNA from the maternal blood, the algorithm counts the number of copies of chromosomes and ensures that you get the most accurate results.

The likelihood of having a false positive or a false negative result is extremely low. This accuracy is of uttermost importance for you. This way, in most of the cases the result of the Tranquility test will avoid the amniocentesis, a procedure with a risk of miscarriage for the pregnant woman.

The most important characteristics of Tranquility are

High Sensitivity 99.9%

This reflects the high capacity of Tranquility test to avoid false negative results. Those occur when a test gives a negative result (no abnormalities detected), whilst in fact the baby does have the screened abnormality.

High Specificity 99.8%

This is the capacity of the Tranquility test to avoid false positive results. False positives results lead to unnecessary and risky amniocentesis whilst the baby does not have the screened abnormality.

A. Circulating cell-free DNA purification from maternal blood.
B. DNA fragments are prepared to build a specific library.
C. Library is immobilized on the sequencing support.
D. Library is sequenced by Next Generation Sequencing.
E. Sequencing information is analised through bioinformatics.
Trisomy SENSITIVITY SPECIFICITY
21 99.9% 99.8%
18 99.9% 99.9%
13 99.9% 99.7%

The current prenatal testings: their limits & dangers

What is the “triple test”?

The current diagnostic technique consists of a “triple test” followed by Amniocentesis.

A statistical predictive procedure, performed during the 1st trimester, based on:

  • Age of mother
  • Nuchal translucency (ultrasound measurement of foetal neck fold)
  • Serology testing (PAPP-A and free B-HCG)

The “triple test” is unreliable and has a high rate of false positive and false negative results:

False Positive: leads to risk of doing unnecessary amniocentesis while the baby is unaffected.

False Negative: leads to risk of having a negative result with the classical test whilst the baby is indeed affected.

Amniocentesis is the diagnostic procedure that is used to confirm the presence or absence of chromosomal abnormalities.

FALSE POSITIVE of "triple test"



Of every 20 women who test positive via biochemical screening, only 1 indeed carries a baby with Down's syndrome.

FALSE NEGATIVE of "triple test"



Of every 20 women carrying a baby with Down's syndrome, 3-4 will test negative via "triple test"

What is the amniocentesis?

The latter test is usually carried out during weeks 15-20 of pregnancy. A needle is used to extract a sample of the amniotic fluid that surrounds the foetus (the developing baby) in the womb (uterus). Amniotic fluid contains cells shed from the foetus that can be examined and tested for a number of diseases. The procedure is quite invasive (involves going into the body) and has an associated risk of miscarriage (the loss of pregnancy). This risk is estimated to be around 1%.

Every year, thousands of miscarriages are provoked by amniocentesis, resulting in the loss of a mother's baby that are often not affected by any disorder!


Clear report, accurate results

Your test report will include one of three possible results: No Aneuploidy Detected, Aneuploidy Detected, or High Risk of Microdeletion Detected.

  • No Aneuploidy Detected means that Tranquility identified the expected number of copies of chromosomes reported.
  • Aneuploidy Detected means that Tranquility identified too many or too few copies of one of the chromosomes specified in the report (trisomy 21, 18, 13, XXX, XYY, XXY, or X0 (monosomy X)).
  • High Risk of Microdeletion Detected means that a microdeletion has been identified. The genomic position and size of the microdeletion on the chromosome and the medical interpretation (if known) will be provided.

In case of a positive result and in addition to consulting with the healthcare provider, we strongly recommend to contact Down syndrome support groups and associations for counselling, information and support.

FAQ

Is Tranquility safe compared to traditional screening tests?
Tranquility uses a simple, risk-free, single blood draw from your arm. Unlike with amniocentesis, there is no risk for the baby.

Is Tranquility easy to perform compared to traditional screening tests?
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).

Is Tranquility accurate compared to traditional screening tests?
Tranquility provides reliable answers. Tranquility is much more accurate than traditional methods: Tranquility ensures a sensitivity 99.9% for trisomy 21 (vs. 70% for traditional methods).

Is Tranquility accurate compared to other NIPT?
Tranquility has only < 0.09% no call rate. This means that in > 99.9% of the time, the test will be able to generate the analysis report. This means there is no need to additional tests or doctor visits.

What kind of technology is used to perform Tranquility test?
Tranquility is performed using the most advanced, complete and comprehensive technology based on MPS (Massive parralele Sequencing); and the whole genome analysis.

Can I trust Genoma?
Our quality requirements follows the most stringent international quality standards to ensure the most accurate and fastest results.

Is Tranquility fast compared to traditional screening tests?
The report is faster than traditional methods; you will receive the results in 5 to 7 working days from reception at the laboratory (unless further analysis are required).

Is Tranquility faster than other NIPT?
Tranquility delivers the fastest results. Genoma selected the most advanced technology meaning that results will be ready in the shortest possible time.

Have Tranquility results been proven?
The performance of Tranquility has been evaluated in major scientific studies led by world renowned medical research and educational institutions. The study findings were published in well established medical and scientific journals.

Can I talk to someone to get more information about Tranquility?
Our specialist team and customer care department will always be there to help you in your own language with any questions you may have about the Tranquility test or our other products and any further information you might need.

Can I know the sex of my future baby?
If you want to know the sex of your baby, Tranquility can also tell you if your foetus carries XX or XY chromosomes.

References

  • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007:109:217–227.
  • 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.
  • GreggAR, GrossSJ, BestRG, etal. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013:15:395–398.
  • 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.
  • 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.
  • 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.
  • 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.
  • Agence de la biomedicine. Mars 2013
  • 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
  • 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
  • Rabinowitz, et al. ASHG Abstract 2012.; Presented data at NSGCAEC 2012.
  • 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.

How Tranquility works

Purchase your Tranquility kit - Receive your kit shortly at home - Perform the collection - Return the sample free of charge - Receive your results!

Purchase online

Ad Tranquility kit to your basket, Click on the order button and follow the simple instructions.

Sampling

You will find in your kit everything you need to perform the sample collection. Simply follow the detailed Instructions For Use that you will find inside your kit.

Free shipping

The shipping is entirely covered by Genoma. Simply follow the instructions inside your kit to return your sample for analysis.

Analysis

Your sample will be analysed in the most advanced laboratories. They use cutting edge technology to offer you the most accurate results in the shortest possible time.

Demo version