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Screening for trisomy 13,18 and 21

Cell‐free DNA screening for trisomy 13,18 and 21


April, 2015:

The results of the multicenter clinical validation called "étude SEHDA", conducted by the Laboratoire CERBA in collaboration with 29 prenatal diagnostic centers, are accepted for publication in the prestigious journal of the American College of Obstetricians and Gynecologists (ACOG) .

IMPACT FACTOR: 4.368, IMPACT FACTOR RANKING: 3rd out of 78 ob/gyn journals.



June 28, 2014:

Dr. Pascale Kleinfinger, MD, clinical pathologist and cytogeneticist at Laboratoire Cerba, took part to a TV program produced at the Polyclinique de l'Atlantique in Nantes (France) on the topic:


"Trisomy 21 : an alternative to amniocentesis"

















March 2014 :

Website dedicated to Fetal Trisomy 21: www.fetal-trisomy21.com

New non invasive genetic test for fetal trisomy 21
Informations for healthcare professionals
Website dedicated

New non invasive genetic test for fetal trisomy 21
Information for patients
Website dedicated

Test génétique non-invasif de la trisomie 21 foetale

This test is a genuine revolution in prenatal diagnosis since it enables to reserve the biopsy of chorionic villi and the amniocentesis as confirmation tests only for women detected as carrying a fetus affected by one of those anomalies, thus reducing the number of fetal losses related to invasive procedures.



For this purpose, Laboratoire Cerba created a website dedicated to this test: www.fetal-trisomy21.com. It provides patients and physicians willing to learn more about this test with all the useful information about the nature and the principle of the test, the indications, the limits, the turnaround time, the associated patient management, the frequently asked questions, the contacts, the publications of our physicians in this field and the articles published in the press.



Although it is a genetic test, the aim is not to analyze the genome of the fetus, but to evaluate the relative proportion of each of the chromosomes 13, 18 and 21 in order to detect an excess of chromosome material observed in trisomies 13, 18 or 21.


Site trisomie 21 foetale


To date, Laboratoire Cerba is the only one to have in its site of Saint Ouen l’Aumône (France) the expertise in fetal genetics, the innovative technology (Next Generation Sequencing) and the powerful bioinformatics infrastructure required for performing this test in clinical practice from the specimen collection to the result. This is true in all countries covered by Laboratoire Cerba operations, thanks to its logistics specialized in the transport of biological specimen.



The non invasive genetic test for fetal Down Syndrome and other fetal aneuploidies  is intended for women classified at risk on the basis of one of the following elements:
The non-invasive genetic test for fetal trisomies 13,18,21 is mainly intended for women with an increased risk of fetal trisomy 21 without ultrasound scan abnormalities:
- Maternal age > 35 years old;
- Maternal serum markers indicating a risk of trisomy 21 ≥ 250 WITHOUT increased nuchal translucency;
- Patient with prior medical history of fetal aneuploidy;
- Presence of a robertsonian translocation involving a chromosome 13 or 21 in one of the parents;
- Serum markers out of truncation limits, thus underestimating a risk for trisomy 21 initially between 1/250 and 1/500.


This test is indicated as well in case of twin pregnancies and in case of biological risk of trisomy 13 or 18.
It can also be performed in the absence of any increased risk of aneuploidy.


It must be performed after the 10th week of amenorrhea and all along the pregnancy. It requires a simple blood draw from the pregnant woman collected on special tubes (Streck) and forwarded to our laboratory a +4°C within 48 hours. The result is delivered within 5 to 15 working days.

Collection kit and protocol for laboratories and all necessary documents for prescribing physicians (test request form, information certificate and informed consent form) are available from Laboratoire Cerba or on our website. In addition, medical information triptychs are available on our website for information of physicians and patients.

IN PRACTICE

  • Specimen: 10 ml whole blood on 2 "STRECK"(low flow)
    Tubes must be completely full and stored and transported at +4° C
  • Technique: Next Generation Sequencing
  • Frequency: 5/w
  • Délai : 5 to 15 d

IMPORTANT
The specimen must come with the test request form, the certificate of medical information and the informed consent form signed by the prescribing physician and the patient, a copy of the ultrasound scan report at 1st trimester (with nuchal translucency measurement) and a copy of any document related to the indication of the test.