Non invasive prenatal diagnosis. All arguments support Prendia
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1 Non invasive prenatal diagnosis All arguments support Prendia
2 Non invasive prenatal testing NIPT Basics of prenatal diagnosis 4 Graphical illustration of different prenatal tests 6 The product family 9 Robustness of Prendia 11 Reliability 15 Medically sensible 16 Quality 17 Swiss Made 19 Advice 20 Data protection 21 Summary 23 Contacts 24 Dear colleagues, Prendia has already celebrated its first birthday. We are proud of what we have achieved already. Thanks to your valuable cooperation, Prendia and non invasive prenatal testing NIPT in general have now won a firm place in prenatal diagnostic tests. In this connection it remains important to note that in biological terms, Prendia corresponds to a chorionic villous sampling (CVS); the implications and limitations resulting from that are discussed extensively on our website. ( > Limitations of Prendia) In this brochure you will find valuable information illuminating the diagnostic profile and special features of Prendia. We are confident that we have provided you with a high-quality instrument that will significantly help you to manage your everyday clinical work. In this sense, we remain, Yours sincerely Bernard Conrad PD Dr. med. Bernard Conrad FMH Med. Genetik Tel. +41 (0) bernard.conrad@genesupport.ch
3 Principles of prenatal diagnosis Prenatal tests are intended to detect genetic abnormalities in the fetus at the earliest possible time. They allow the parents to prepare themselves if necessary and cope with the difficult situation. INVASIVE prenatal diagnosis Chorionic villous sampling (CVS) can be performed before amniocentesis. Biopsy provides components of the placenta, the chorionic villi, for examination. Amniocentesis (invasive sampling of amniotic fluid from the abdomen of pregnant women) is the reference test (karyotyping) for the examination for chromosome abnormalities. Amniocentesis procedure A Removal of amniotic fluid samples under medical supervision B Performance of rapid test (detection of 65 % of abnormalities) C Preparation of a cell culture to examine all chromosomes and detect > 99 % of all abnormalities (karyotyping) Invasive tests supply the most reliable results, but with risk for the unborn child. Every year, in Switzerland these tests lead to death of 1 % of the fetuses without chromosome disorders (about 50 babies). NON INVASIVE* Prenatal test: Prendia START (NIPT; with narrow detection spectrum) The Prendia START result corresponds to the rapid amniocentesis test (detects 65 % of abnormalities). Its reliability is 99 %. NON INVASIVE* Prenatal test of the latest generation: Prendia EXPERT The analytical spectrum of this non invasive test using the blood of the pregnant woman largely corresponds to that of amniocentesis (see comparison on next page). However, Prendia EXPERT is cheaper and does not put the fetus at risk. Prendia (a Swiss development) is the only non invasive test where the DNA remains in Switzerland, which achieves a reliability of more than 99 %. * NON INVASIVE genetic tests are much cheaper than amniocentesis and represent NO danger to the unborn child. 4 5
4 Visual comparison of genetic pre natal diagnoses Latest generation of non invasive prenatal testing with broad detection spectrum Test result after 14 days All 23 chromosome pairs examined Results' certainty over 99% Detects abnormalities 95 % Latest generation of non invasive prenatal testing NIPT* Non invasive prenatal testing with narrow detection spectrum Test result after 14 days Examines the 4 chromosome pairs with the most frequent abnormalities. Test result after days. Examines the 4 chromosome pairs with the most frequent abnormalities. Results' certainty over 99 % Detects abnormalities 65 % Results' certainty % Detects abnormalities 65 % Invasive Tests Amniocentesis and chorionic villous sampling (CVS). Original (invasive!) prenatal test Rapid test in 48 h Test result 1 after 14 days ( 1 including rapid test) Detects abnormalities 65 % Results' certainty over 99 % Detects abnormalities (Gold standard) up to 100 % * NIPT non invasive prenatal testing 6 7
5 à Prendia EXPERT is the only test which has a detection profile similar to that of karyotyping. The product family The non invasive prenatal test Prendia EXPERT is performed with blood from the pregnant woman and is safe for the fetus. Prendia EXPERT examines all 23 chromosomes for possible abnormalities and thus matches the broad analytical spectrum of amniocentesis. The analysis takes days. The non invasive prenatal test Prendia START analyzes only the four chromosomes with the most frequent abnormalities and thus detects 65 % of the possible abnormalities with 99 % reliability, the analysis takes days. 8 9
6 Prendia is more robust An examination before birth always involves great mental stress for the expectant mother. If a test has to be repeated for technical reasons, this stress is increased. Prendia > 99 % Prendia provides a result with > 99 % certainty. Other tests % Other NIPT* supply a result in only % of cases. (1-2) (*) NIPT non invasive prenatal testing (1) Fetal Diagn Ther doi: / (2) Ultrasound Obstet Gynecol :
7 à All arguments support Prendia!
8 Prendia is more reliable T21, T18, T13 and TS (3) are the most frequent abnormalities. Most of the other non invasive tests and Prendia detect T21 very reliably. Other tests detect T18, T13 and TS with decreasing reliability. (4-5) Prendia achieves similar reliability for the four most frequent abnormalities. Prendia T21 T18 T13 TS Schematic illustration of reliability (about 10 % difference with T13 and TS) other Tests (3) Turner syndrome (4) Prenat Diagn : (5) Prenat Diagn :
9 Prendia is economically more reasonable To some extent, other tests are offered already from the 9th week of pregnancy (WP) even though natural miscarriages are relatively frequent up to the 10th WP. Tests before the 10th WP are not really sensible due to the increased risk for natural miscarriage. Prendia has proved to be outstanding Several thousand Prendia tests have been performed since its launch and up to the present time. Prendia has the EC declaration of conformity (complete quality assurance system) according to Annex IV Section 3 of EC Directive 98/79 on In vitro Diagnostic Medical Devices for the PrenDia software for the interpretation of sequencing data in the prenatal diagnosis of trisomy 21 (EDMS: ; List B). à Prendia is performed from the 10th WP. This is economically and medically more sensible. à Prendia has proved its quality points of reliability, robustness and accuracy
10 à Hinter Prendia stehen medizinische Genetiker aus der Schweiz Prendia is Swiss Made Prendia was developed in Switzerland and is performed completely in Switzerland from the extraction of the DNA, sequencing, and bioinformatics to diagnosis. Other tests are performed abroad (e.g. USA, China or Germany)
11 With Prendia you are advised exclusively by medical geneticists. Prendia provides the best advice With Prendia, the procedure, diagnosis and advice come from a single source. Medical geneticists of the Genesupport organization are responsible for performing Prendia and providing a diagnosis. The medical staff are directly available to you for genetic advice, especially in the case of rare abnormalities. Prendia guarantees Swiss data protection Prendia is the only test for which all the genetic information about the mother and the unborn child remains in Switzerland and is thus subject to Swiss law (data protection). The patient data of other tests are for example subject to US American data protection laws. à Prendia is subject to Swiss law
12 Prendia is unique Prendia is more robust You obtain a result in over 99 % of cases. Prendia is more reliable You get the same reliable results for all the common abnormalities. Prendia is economically more reasonable Test are economically and medically sensible only from the 10th week of pregnancy. Prendia is Swiss Made Development, performance and advice take place in Switzerland. Prendia offers the best advice You are without exception advised by medical geneticists. Prendia guarantees Swiss data protection The data remain in Switzerland. Prendia has proved itself thousands of times You are choosing a quality product.
13 Knowledge relieves More information, such as a detailed list of the test limits and contact information for our geneticists can be found at Prendia is a product of Genesupport, a member of the Medisupport network. genesupport Freiburgstrasse Niederwangen Tel Fax info-de@genesupport.ch fruitcake.ch Prendia is fully CE compliant
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