Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

• Main Authors: Honglei Duan (Author), Wanjun Wang (Author), Ying Zhang (Author), Xuemei Chen (Author), Zihan Jiang (Author), Jie Li (Author)
• Format: Book
• Published: Elsevier, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of ma...