Investigates prenatal optical genome mapping's effectiveness in improving diagnosis precision and quality metrics in amniotic fluid samples.
The findings of this study indicate that a reduced volume of AF sample or a shortened cell culture duration can be achieved in prenatal OGM, thereby enhancing the feasibility of employing OGM in prenatal diagnosis and potentially benefiting patients. Furthermore, data QC metrics suitable for prenatal samples may be more tolerant than previously recommended, necessitating further investigation with larger cohorts to establish specific QC standards for prenatal samples.
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Yang et al. (2026) studied this question.
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