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Master Thesis

Dépistage de la trisomie 21 sur l’ADN libre circulant au Centre Hospitalier Universitaire Grenoble Alpes : étude des performances statistiques, prévalence des échecs et impact de l’indice de masse corporelle

Abstract : OBJECTIVES: Evaluate the statistical performance of Cell-free DNA screening for detection of trisomy 21 at the Grenoble Alpes University Hospital Center (CHUGA), estimate the prevalence of the different types of failures rate by years and BMI, compare the percentages of failures rate for the insufficient fetal fraction in patients with a normal BMI compared to overweight and obese patients. METHODS: This is a descriptive and retrospective study in patients who underwent a cfDNA screening at the CHUGA’s chromosomal genetics laboratory in 2016, 2017 and 2019. The data was collected from the DEFGEN software. The main outcomes are the sensitivity, specificity, positive and negative predictive value of the test. Secondary outcomes are the total failure rate, the technical failure rate, the failure rate for insufficient fetal fraction and the percentage of failure rate for insufficient fetal fraction according to the patient’s BMI. RESULTS: 5,192 files were studied. CfDNA screening for detection of trisomy 21 had a sensitivity of 100%, a specificity of 99.9%, a PPV of 92.3% and a failure rate of 4.3%. There was a statistically significant increase for the percentage of failures rate for insufficient fetal fraction in overweight women (p = 0.006) and obese women (p <0.001) compared to women with normal BMI. CONCLUSION: The cfDNA screening at the CHUGA has excellent statistical performance. The failure rate for insufficient fetal fraction increases with BMI.
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https://dumas.ccsd.cnrs.fr/dumas-03053619
Contributor : Jean-Hugues Morneau <>
Submitted on : Friday, December 11, 2020 - 10:11:40 AM
Last modification on : Sunday, December 13, 2020 - 3:21:08 AM

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  • HAL Id : dumas-03053619, version 1

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Emeline Gaudin. Dépistage de la trisomie 21 sur l’ADN libre circulant au Centre Hospitalier Universitaire Grenoble Alpes : étude des performances statistiques, prévalence des échecs et impact de l’indice de masse corporelle. Gynécologie et obstétrique. 2020. ⟨dumas-03053619⟩

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