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Master Thesis

Le Dépistage Prénatal Non Invasif de la Trisomie 21 : le DPNI

Abstract : Background: NIPT, Non-Invasive Pre-natal Testing, is a technological advance in the detection of fetal chromosomal aneuploidies, the most common of which is Down Syndrome. NIPT analyses cell-free fetal DNA in the blood of a pregnant woman. Its high sensitivity (99.1%) and specificity (99.9%) make that test a performance to the actual screening (Sensitivity = 85%, Specificity = 1/30). Fetal karyotyping is obtained by invasive procedure but nevertheless carries a risk of miscarriage of about 0.5%.A woman with an abnormal non-invasive test (High risk: 1/250) is then offered an invasive diagnostic test (amniocentesis, trophoblastic biopsy, but there is a risk of miscarriage.
Method and Design: Retrospective study of 8,863 patients at the AHP Pre-natal Diagnosis center between 2 January 2012 and 25 September 2014.
Objective: to assess the performance of cell-free fetal DNA testing and improve the screening of chromosomal abnormalities. Hypothesis: NIPT reduces the invasive procedures. It is safer and better than the current screening system with the risks attached to invasive punctures.
Results: Thanks to NIPT, invasive procedures have been significantly reduced (p <0,0001). Down Syndrome sensitivity is 100%, its specificity is 50%, its predictive positive value is 85.7%, and its predictive negative value is 100%.
Discussion: DNA testing in maternal blood improves the detection of fetal chromosomal aneuploidies. NIPT needs to find its rightful and proper place (first or second line) in the detection program for Down Syndrome. It raises possible ethical and economic issues.
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Submitted on : Tuesday, September 15, 2015 - 4:18:47 PM
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  • HAL Id : dumas-01193165, version 1


Clémence Fabre Belloin. Le Dépistage Prénatal Non Invasif de la Trisomie 21 : le DPNI. Gynécologie et obstétrique. 2015. ⟨dumas-01193165⟩



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