PMID- 33829709 OWN - NLM STAT- MEDLINE DCOM- 20210409 LR - 20230829 IS - 1672-173X (Print) IS - 1672-173X (Linking) VI - 52 IP - 2 DP - 2021 Mar TI - [Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome]. PG - 319-325 LID - 10.12182/20210360602 [doi] AB - OBJECTIVE: 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). METHODS: 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 () (8x60K) platform and the data were analyzed by the Genoglyphix ((R)) software. RESULTS: 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% (37/3 578). In the high-risk, the borderline-risk and the abnormal MoM groups, the detection rate of chromosomal abnormalities was 3.54% (93/2 624), 2.87% (19/662) and 3.08% (9/292), respectively; the detection rate of p/lp CNVs was 1.64% (43/2 624), 1.81% (12/662) and 2.05% (6/292), respectively; the detection rate of trisomy 21 and trisomy 18 was 1.37% (36/2 624), 0.76% (5/662) and 0.34% (1/292) in the three groups, respectively. There were no significant differences in all the detection rate among these groups ( P>0.05). One sample with X(51)/XYY(49) confirmed by fluorescence in situ hybridization (FISH) was misdiagnosed by a-CGH. CONCLUSION: Prenatal diagnosis with a-CGH is of great significance for reducing birth defects in pregnancies with abnormal serological prenatal screening results of DS. It can also be used to detect CNVs of microdeletion/microduplication syndromes. CI - Copyright(c) by Editorial Board of Journal of Sichuan University (Medical Sciences). FAU - Hu, Rui AU - Hu R AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Hu, Ting AU - Hu T AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Zhang, Zhu AU - Zhang Z AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Wang, Jia-Min AU - Wang JM AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Li, Qin-Qin AU - Li QQ AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Yang, Yun-Yuan AU - Yang YY AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Xiao, Li-Ke AU - Xiao LK AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Zhu, Hong-Mei AU - Zhu HM AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Li, Ling-Ping AU - Li LP AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Zhang, Li-Li AU - Zhang LL AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Wang, He AU - Wang H AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. FAU - Liu, Shan-Ling AU - Liu SL AD - Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. AD - Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China. LA - chi PT - Journal Article PL - China TA - Sichuan Da Xue Xue Bao Yi Xue Ban JT - Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition JID - 101162609 SB - IM MH - Chromosome Aberrations MH - Comparative Genomic Hybridization MH - *Down Syndrome/diagnosis/genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Pregnancy MH - Prenatal Diagnosis PMC - PMC10408917 OTO - NOTNLM OT - Array-based comparative genomic hybridization OT - Chromosome microarray analysis OT - Copy number variants OT - Prenatal diagnosis OT - Serological prenatal screening EDAT- 2021/04/09 06:00 MHDA- 2021/04/10 06:00 PMCR- 2021/03/20 CRDT- 2021/04/08 06:54 PHST- 2021/04/08 06:54 [entrez] PHST- 2021/04/09 06:00 [pubmed] PHST- 2021/04/10 06:00 [medline] PHST- 2021/03/20 00:00 [pmc-release] AID - scdxxbyxb-52-2-319 [pii] AID - 10.12182/20210360602 [doi] PST - ppublish SO - Sichuan Da Xue Xue Bao Yi Xue Ban. 2021 Mar;52(2):319-325. doi: 10.12182/20210360602.