Details

Autor(en) / Beteiligte

• Hu, Rui
• Hu, Ting
• Zhang, Zhu
• Wang, Jia-Min
• Li, Qin-Qin
• Yang, Yun-Yuan
• Xiao, Li-Ke
• Zhu, Hong-Mei
• Li, Ling-Ping
• Zhang, Li-Li
• Wang, He
• Liu, Shan-Ling

Titel

Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome

Ist Teil von

• Sichuan da xue xue bao. Journal of Sichuan University. Yi xue ban, 2021-03, Vol.52 (2), p.319-325

Ort / Verlag

China

Erscheinungsjahr

2021

Quelle

MEDLINE

Beschreibungen/Notizen

• To explore the application of array-based comparative genomic hybridization (a-CGH) technology in the prenatal diagnostic assessment of abnormal serological prenatal screening results of Down's syndrome (DS). A total of 3 578 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal serological prenatal screening results were selected. The samples were categorized into 3 groups, 2 624 in the high-risk group, 662 in the borderline-risk group, and 292 in the abnormal multiple of median (MoM) group. a-CGH was performed on the Agilent CGX (8×60K) platform and the data were analyzed by the Genoglyphix software. The overall detection rate of chromosomal abnormalities was 3.38% (121/3 578). Among the chromosomal abnormalities, 49.59% (60/121) was aneuploidies, 42.15% (51/121) was pathogenic copy number variants (pCNVs), and 8.26% (10/121) was likely pathogenic CNVs (lpCNVs). The detection rate of copy number variant of uncertain significance (VUS) was 1.03%