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Prenatal chromosomal microarray analysis in 2,466 fetuses with ultrasonographic soft markers: A prospective cohort study

American Journal of Obstetrics and Gynecology Oct 29, 2020

Hu T, Tian T, Lai Y, et al. - This research was intended to evaluate clinical outcomes in fetuses with isolated soft markers by single nucleotide polymorphism array with long-term follow-up and to propose a diagnostic algorithm based on specific types of soft markers. This prospective study included a sum of 2,466 fetuses with ultrasonographic soft markers during the second trimester, that were subjected to a single nucleotide polymorphism array with long-term follow-up over a 5-year period. The results of this study demonstrate that potential chromosomal aberrations and clinical prognoses varied widely among different types of isolated soft markers. It was shown that pathological copy number variants are more often present in specific soft markers, particularly when multiple soft markers are found. Therefore, they proposed a specific soft marker type-based prenatal genetic testing algorithm.

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