Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Huilin WangZirui DongRui ZhangMatthew Hoi Kin ChauZhenjun YangKathy Yin Ching TsangHoi Kin WongBaoheng GuiZhuo MengKelin XiaoXiaofan ZhuYanfang WangShaoyun ChenTak Yeung LeungSau Wai CheungYvonne K KwokCynthia C MortonYuanfang ZhuKwong-Wai ChoyPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
In the context of prenatal diagnosis, low-pass GS identified additional and clinically significant information with enhanced resolution and increased sensitivity of detecting mosaicism as compared with the CMA platform used. This study provides strong evidence for applying low-pass GS as an alternative prenatal diagnostic test.