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Genome-wide cell-free fetal DNA-based prenatal testing: Limits and perspectives

par Bevilacqua, Elisa ;Jani, Jacques
Référence Prenatal Diagnostic Testing for Genetic Disorders: The revolution of the Non-Invasive Prenatal Test, Springer International Publishing, page (291-302)
Publication Publié, 2023-07

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Résumé :

Chromosomal abnormalities are a major cause of perinatal morbidity and mortality. Screening for these conditions has always been crucial for an optimal care of pregnant women. Screening for aneuploidies initially started using only maternal age to estimate the risk of Down syndrome. The addition of serum screening progressively improved the detection rate. A real revolution in the screening of aneuploidies occurred in 1997 with the advent of the nuchal translucency as an ultrasound marker. Since 2011, new researchers have focused on noninvasive prenatal testing using cell-free fetal DNA (cfDNA) present in the maternal circulation. This new technique has proven to be superior to all other prior screening methods for the detection of trisomies and has been rapidly implemented into prenatal programs around the world but unfortunately prior to thorough scientific evaluation and without appropriate validation to carefully assess the very complex technical and ethical issues related to the test. The objective of this chapter is to give information about limits and perspectives of genome-wide cfDNA testing. In fact, genome-wide technique is very complex and it is very important to know how this test technically works to be able to understand its limitations and possible potential.