PMID- 33509128
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20210514
IS  - 1471-2393 (Electronic)
IS  - 1471-2393 (Linking)
VI  - 21
IP  - 1
DP  - 2021 Jan 28
TI  - Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal 
      abnormalities in Quanzhou, China.
PG  - 94
LID - 10.1186/s12884-021-03589-9 [doi]
LID - 94
AB  - BACKGROUND: An increasing number of techniques have been used for prenatal 
      diagnosis of genetic abnormalities. Our initial objective was to explore the 
      value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of 
      aneuploidies and microdeletion/microduplication syndromes in Quanzhou, Southeast 
      China. METHODS: A total of 1409 pregnant women with high-risk factors for 
      chromosomal abnormalities admitted to Quanzhou Women's and Children's Hospital 
      were enrolled in this study. BoBs assays and karyotype analyses were conducted 
      for all subjects. Subsequently, chromosome microarray analysis (CMA) or 
      fluorescence in situ hybridization (FISH) was performed to validate the findings. 
      RESULTS: In this study, karyotype analysis and BoBs assay failed in 4 cases, and 
      2 cases, respectively. A total of 1403 cases were successfully analyzed, with 
      success rates of 99.72% (1405/1409) and 99.85% (1407/1409) for karyotype analysis 
      and Bobs assay, respectively. BoBs assay rapidly detected chromosomal 
      aneuploidies in line with the karyotyping data. Additionally, 23 cases of 
      microdeletions/microduplications were detected by BoBs assay but missed by 
      karyotyping, including 22q11.2 microdeletions/microduplications, 5p15.32p15.33 
      microdeletion, Xp22.31 microdeletions/microduplications, Xq27.3 microdeletion, 
      and Yp11.2 and Yq11.22q11.222 microduplication. In comparison with karyotyping, 
      fewer mosaicisms were identified by BoBs assay. A high detection rate of 
      chromosomal abnormalities was observed in the high-risk group during noninvasive 
      prenatal testing (NIPT) (41.72%) and the abnormal ultrasound group (13.43%). 
      CONCLUSIONS: BoBs assay can be used for the rapid and efficient prenatal 
      diagnosis of common aneuploidies and microdeletion/microduplication syndromes. 
      Moreover, the combined use of BoBs assay and karyotyping in prenatal diagnosis 
      may allow for a more effective detection of chromosomal abnormalities.
FAU - Zhuang, Jianlong
AU  - Zhuang J
AD  - Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 
      Fujian, 362000, People's Republic of China.
FAU - Chen, Chunnuan
AU  - Chen C
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Fujian Medical 
      University, Quanzhou, Fujian, 362000, People's Republic of China.
FAU - Jiang, Yuying
AU  - Jiang Y
AD  - Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 
      Fujian, 362000, People's Republic of China.
FAU - Luo, Qi
AU  - Luo Q
AD  - Department of Public Health for Women and Children, Quanzhou Women's and 
      Children's Hospital, Quanzhou, Fujian, 362000, People's Republic of China.
FAU - Zeng, Shuhong
AU  - Zeng S
AD  - Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 
      Fujian, 362000, People's Republic of China.
FAU - Lv, Chunling
AU  - Lv C
AD  - Zhejiang Biosan Technology Co., Ltd, Hangzhou, Zhejiang, 310000, People's 
      Republic of China.
FAU - Wang, Yuanbai
AU  - Wang Y
AD  - Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 
      Fujian, 362000, People's Republic of China. wybslj@163.com.
FAU - Fu, Wanyu
AU  - Fu W
AUID- ORCID: 0000-0001-8087-205X
AD  - Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 
      Fujian, 362000, People's Republic of China. 272399258@qq.com.
LA  - eng
GR  - 2020C026R/Quanzhou Science and Technology Bureau/
GR  - 2020QNB045/Fujian Provincial Health Commission/
PT  - Journal Article
DEP - 20210128
PL  - England
TA  - BMC Pregnancy Childbirth
JT  - BMC pregnancy and childbirth
JID - 100967799
SB  - IM
MH  - Adult
MH  - China
MH  - Chromosome Aberrations/*embryology
MH  - Congenital Abnormalities/*diagnosis/*genetics
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
PMC - PMC7844892
OTO - NOTNLM
OT  - BoBs assay
OT  - Karyotyping
OT  - Microdeletion/microduplication
OT  - Prenatal diagnosis
COIS- The authors declare they have no conflict of interests.
EDAT- 2021/01/30 06:00
MHDA- 2021/05/15 06:00
PMCR- 2021/01/28
CRDT- 2021/01/29 05:37
PHST- 2020/11/02 00:00 [received]
PHST- 2021/01/22 00:00 [accepted]
PHST- 2021/01/29 05:37 [entrez]
PHST- 2021/01/30 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2021/01/28 00:00 [pmc-release]
AID - 10.1186/s12884-021-03589-9 [pii]
AID - 3589 [pii]
AID - 10.1186/s12884-021-03589-9 [doi]
PST - epublish
SO  - BMC Pregnancy Childbirth. 2021 Jan 28;21(1):94. doi: 10.1186/s12884-021-03589-9.