Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.

Xiao-Yan YangYan MengYang-Yang WangYan-Ping LuQiu-Hong WangYan-Qin YouXiao-Xiao XieLing BaiNan FangLi-Ping Zou

Published in: Molecular genetics & genomic medicine (2022)

This study demonstrates that NIPD based on cfDNA is feasible for TSC, but required to be confirmed with more samples. Studies on TSC can contribute to the application and promotion of NIPD for monogenic disorders.

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