PMID- 37951870
OWN - NLM
STAT- MEDLINE
DCOM- 20231113
LR  - 20231122
IS  - 1471-2393 (Electronic)
IS  - 1471-2393 (Linking)
VI  - 23
IP  - 1
DP  - 2023 Nov 11
TI  - Chromosome microarray analysis combined with karyotype analysis is a powerful 
      tool for the detection in pregnant women with high-risk indicators.
PG  - 784
LID - 10.1186/s12884-023-06052-z [doi]
LID - 784
AB  - BACKGROUND: Karyotype analysis and fluorescence in situ hybridization (FISH) are 
      commonly used for prenatal diagnosis, however they have many disadvantages. 
      Chromosome microarray analysis (CMA) has the potential to overcome these 
      disadvantages. This study aimed to evaluate the clinical value of CMA in the 
      diagnosis of fetal chromosomal anomalies in southwest of China. METHODS: A total 
      of 3336 samples of amniotic fluid or umbilical cord blood from pregnant women 
      with high-risk indicators at our center in southwest of China from June 2018 to 
      January 2023 were included in the retrospective analysis. 3222 cases tested by 
      CMA and karyotyping, 114 cases only tested by CMA. RESULTS: 3336 samples divided 
      into 2911 cases with single and 425 cases with multiple high-risk indicators. The 
      aneuploidy and pathogenic/likely pathogenic copy number variations (CNVs) of 2911 
      cases with single high-risk indicator were 4.43% (129/2911) and 2.44% (71/2911) 
      respectively; the aneuploidy and pathogenic/likely pathogenic CNVs of 425 cases 
      with multiple high-risk indicators were 6.82% (29/425) and 2.12% (9/425) 
      respectively. The rate of aneuploidy increased significantly with pregnancy age 
      or NT value. The detection rate of aneuploidy on cases with AMA combined 
      NT >/= 2.5 mm was significantly higher than that in cases only with AMA 
      (p < 0.001); the detection rate of aneuploidy and pathogenic/likely pathogenic 
      CNVs in cases with AMA combined NIPT high-risk were higher than that in cases 
      only with AMA (p < 0.001, p < 0.05). CONCLUSIONS: The combined application of CMA 
      and karyotyping were recommended in prenatal diagnosis for providing a scientific 
      and accurate genetic diagnosis and improving the quality of prenatal genetic 
      counseling.
CI  - (c) 2023. The Author(s).
FAU - Qian, Guanhua
AU  - Qian G
AD  - Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing 
      Medical University, No. 74 Linjiang Road, Yuzhong District, Chongqing, 400010, 
      China.
FAU - Cai, Liuyun
AU  - Cai L
AD  - Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing 
      Medical University, No. 74 Linjiang Road, Yuzhong District, Chongqing, 400010, 
      China.
FAU - Yao, Hong
AU  - Yao H
AD  - Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing 
      Medical University, No. 74 Linjiang Road, Yuzhong District, Chongqing, 400010, 
      China.
FAU - Dong, Xiaojing
AU  - Dong X
AD  - Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing 
      Medical University, No. 74 Linjiang Road, Yuzhong District, Chongqing, 400010, 
      China. dongxiaojing@cqmu.edu.cn.
LA  - eng
GR  - 2020/Kuanren Talents Program of the second affiliated hospital of Chongqing 
      Medical University/
GR  - W0122/Program for Youth Innovation in Future Medicine of Chongqing Medical 
      University/
GR  - W0122/Program for Youth Innovation in Future Medicine of Chongqing Medical 
      University/
GR  - cstc2019jcyj-msxmx0318/Natural Science Foundation Project of Chongqing, Chongqing 
      Science and Technology Commission/
GR  - 2023FY201/Maternal and Child Health Research Cultivation Project of the Chongqing 
      Health Commission/
PT  - Journal Article
DEP - 20231111
PL  - England
TA  - BMC Pregnancy Childbirth
JT  - BMC pregnancy and childbirth
JID - 100967799
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Humans
MH  - *Pregnant Women
MH  - Retrospective Studies
MH  - *DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - Prenatal Diagnosis
MH  - Karyotyping
MH  - Aneuploidy
MH  - Microarray Analysis
MH  - Karyotype
PMC - PMC10638706
OTO - NOTNLM
OT  - Chromosomal microarray analysis (CMA)
OT  - Copy number variation (CNV)
OT  - Karyotype analysis
OT  - Prenatal diagnosis
COIS- The authors declare no competing interests.
EDAT- 2023/11/12 00:42
MHDA- 2023/11/13 06:43
PMCR- 2023/11/11
CRDT- 2023/11/11 23:14
PHST- 2023/01/18 00:00 [received]
PHST- 2023/10/05 00:00 [accepted]
PHST- 2023/11/13 06:43 [medline]
PHST- 2023/11/12 00:42 [pubmed]
PHST- 2023/11/11 23:14 [entrez]
PHST- 2023/11/11 00:00 [pmc-release]
AID - 10.1186/s12884-023-06052-z [pii]
AID - 6052 [pii]
AID - 10.1186/s12884-023-06052-z [doi]
PST - epublish
SO  - BMC Pregnancy Childbirth. 2023 Nov 11;23(1):784. doi: 10.1186/s12884-023-06052-z.