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

Autor:	Hu R; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Hu T; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Zhang Z; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Wang JM; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Li QQ; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Yang YY; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Xiao LK; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Zhu HM; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Li LP; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Zhang LL; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Wang H; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China., Liu SL; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu 610041, China.
Jazyk:	čínština
Zdroj:	Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition [Sichuan Da Xue Xue Bao Yi Xue Ban] 2021 Mar; Vol. 52 (2), pp. 319-325.
DOI:	10.12182/20210360602
Abstrakt:	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 ™ (8×60K) platform and the data were analyzed by the Genoglyphix ® 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. (Copyright© by Editorial Board of Journal of Sichuan University (Medical Sciences).)
Databáze:	MEDLINE
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