BMC Med Genomics 2021 Apr 14;14(1):106. Epub 2021 Apr 14.
Prenatal Diagnosis Center, Women and Children's Hospital, School of Medicine, Xiamen University, 10 Zhenhai Road, Xiamen, 361003, Fujian Province, China.
Background: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. Read More