NIPT T21 : Non-invasive prenatal testing for trisomy 21 – Eurofins Biomnis

 

In April 2013, the National Advisory Committee for Ethics approved the implementation of a genetic screening for T21 for the women at risk.

In fact, aside from its excellent performances in terms of sensitivity and specificity, the introduction of NIPT is expected to reduce significantly the number of invasive procedures (sampling of chorionic villi and amniotic fluid) performed on women at risk and, therefore, the number of associated foetal deaths (0.5-1%).

There are actually two methods available for NIPT: a targeted method (on chromosomes 13, 18, and 21) and a global pangenomic method based on massive DNA sequencing (Massively-Parallel Sequencing or MPS). Eurofins Biomnis uses the MPS technology (Verifi®) on a HiSeq™ 2500 sequencer from Illumina, which currently presents the best screening performance for the predominant aneuploidies using a non-invasive technique.

NIPT can be performed starting on Week 12 of amenorrhoea. In accordance with the recommendations on the best prenatal diagnosis practice (decree no. 2014-32 of 14 January 2014), the implementation of this genetic test requires clear information and the patient’s consent.

Our pathologists are members of the ACLF (Association des Cytogénéticiens de Langue Française; French Cytogenetics Association) and URPHE (Union Régionale pour la Prévention des Handicaps de l’Enfant; Regional Association for the Prevention of Child Disabilities).

Document
B39-INTGB - Detection of chromosomal abnormalities by analysis of circulating cell-free DNA (NIPT)
Document
D39-INTGB - Information and Consent Form Non-invasive Prenatal Testing (NIPT) for trisomies 21, 18 and 13
Focus on
Non-Invasive Prenatal Testing for trisomies 21, 18 and 13 (NIPT) (DS29HP-INTGB)

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