The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling. (18th August 2021)

• Record Type: Journal Article
• Authors: Chen, Yun; Lai, Yunli; Xu, Fuben; Qin, Haisong; Tang, Yanqing; Huang, Xiaoshan; Meng, Lintao; Su, Jiasun; Sun, Weijia; Shen, Yiping; Wei, Hongwei
• Is Part Of: Journal of maternal-fetal & neonatal medicine. Volume 34:Number 16(2021)
• Page Start: 2710
• Page End: 2716
• Publication Date: 2021-08-18
• Subjects: Aneuploidy -- chromosomal deletion/duplication -- noninvasive prenatal screening -- positive predicted value -- genetic counseling; Obstetrics -- Periodicals; Perinatology -- Periodicals; Infants (Newborn) -- Diseases -- Periodicals; Neonatology -- Periodicals; 618.2
• DOI: 10.1080/14767058.2021.1907333
• Languages: English
• ISSNs: 1476-7058

Abstract

Abstract: Objective: To evaluate the clinical application of expanded noninvasive prenatal screening (eNIPS) for genome-wide large copy number variation (CNV), i.e. chromosomal deletion/duplication >5 Mb, and aneuploidy; also to provide practical information for counseling eNIPS positive cases. Method: We recruited 34, 620 women with singleton pregnancy for genome-wide cell-free plasma DNA sequencing. Screening positive cases were verified by karyotyping and/or SNP array. Result: A total of 461 (1.33%) positive cases were identified through our cfDNA screening including 209 cases of common trisomies (0.60%), 124 cases of sex chromosomal abnormalities (SCA) (0.36%), 71 cases of other autosomal anueploidies (OAA) (0.21%), and 57 CNVs larger than 5 Mb (0.16%). The predictive positive values (PPV) were 70.06% in general for common trisomies with as high as 91.67% for Trisomy21 (T21), 40.22% in general for SCAs with as high as 100% for Jacob Syndrome (XYY). The PPV for OAAs was 5.45%, and T7/T8/T16/T22 were the most frequent OAAs ( n = 15, 9, 9, 8, respectively). The PPV for CNVs larger than 5 Mb was 51.22% ( n = 57) with the CNV mostly detected on Chr5/Chr4/Chr2/Chr7 ( n = 10, 8, 5, 5, respectively). Conclusion: 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).