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The PPV for CNVs larger than 5 Mb was 51.22% ( = 57) with the CNV mostly detected on Chr5/Chr4/Chr2/Chr7 ( = 10, 8, 5, 5, respectively). The expanded NIPS had shown promising PPVs for CNVs (large than 5 Mb), SCAs and common trisomies, yet this method required higher efficacy in screening for OAAs. The post-test genetic counseling for expanded NIPS should be tailored to the types of positive cases and also address the origin of abnormal signals (fetal vs. maternal). The expanded NIPS had shown promising PPVs for CNVs (large than 5 Mb),