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Series GSE230763 Query DataSets for GSE230763
Status Public on Apr 30, 2023
Title Can non-invasive prenatal screening based on cell-free fetal DNA be utilized to assess chromosome abnormalities in fetuses with increased Nuchal Translucency?
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Genome variation profiling by SNP array
Summary Objective: The study compared the incidence of aneuploidy and copy number variations (CNVs) in fetuses with increased nuchal translucency (NT) to those with clear indications for non-invasive prenatal screening (NIPS), aiming to evaluate the risk of routine aneuploidy (RA) and pathogenic submicroscopic abnormalities and the potential use of NIPS for fetuses with increased NT.
Methods: The study retrospectively analyzed 716 pregnant women with isolated increased NT in Group IiNT and 2960 pregnant women in the control group. The control group was divided into sub-Group A (1531 patients underwent invasive prenatal diagnosis for advanced maternal age (AMA)), sub-Group B (1331 for high-risk maternal serum screening (hMSS)), and sub-Group C (98 for both hMSS and AMA). All cases underwent karyotyping and chromosomal microarray analysis.
Results: In Group IiNT and each sub-group, there were cases of RA (17, 28, 24, and 1) and clinically significant CNVs (22, 19, 39, and 5), respectively. There was no significant difference in RA incidence between Group IiNT and the control group/subgroups. Similarly, there was no statistical difference in clinically significant CNVs and CNVs <10 Mb between Group IiNT and sub-Group B/C or the control group. Only Group IiNT and sub-Group A showed a significant difference.
Conclusion: Using NIPS with broader and deeper sequencing could theoretically potentially serve as a screening tool for identifying global chromosomal and submicroscopic abnormalities in fetuses with isolated increased NT. However, further research is required to determine the clinical application and to assess the efficacy of NIPS in detecting abnormalities.
Traditional karyotyping and SNP array was performed on all 3676 pregnancies.
Overall design SNP array was performed on various pregnancy types.

*** Submitter declares that some chp and CEL files have been lost. ***
Contributor(s) Su L, Xu L
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Submission date Apr 27, 2023
Last update date May 02, 2023
Contact name su linjuan
Phone 15280422904
Organization name Fujian Provincial Maternity and Children's Hospital,
Street address daoshanlu
City fuzhou
ZIP/Postal code 350001
Country China
Platforms (1)
GPL18637 [CytoScan750K_Array] Affymetrix CytoScan 750K Array
Samples (129)
GSM7233863 chorionic villous sampling C1713-750knsp
GSM7233864 amniotic fluid G6732-750knsp
GSM7233865 amniotic fluid G7643-750knsp
BioProject PRJNA962535

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE230763_RAW.tar 5.0 Gb (http)(custom) TAR (of CEL, CYCHP)
Processed data provided as supplementary file

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