OMIX

Prenatal diagnosis of Trisomy 8 Mosaicisminitially identified by cffDNA Screening

OMIX001409

1Summary
Title Prenatal diagnosis of Trisomy 8 Mosaicisminitially identified by cffDNA Screening
Description Cell-free fetal DNA (cffDNA) in the maternal plasma is widely used to screen fetalaneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M) which was initially identified via cffDNA screening. A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, karyotyping and chromosome microarray (CMA) were used to determine fetal chromosomes. Interphase fluorescence in situ hybridization (FISH) was used to determine the number of chromosome 8.
Organism Homo sapiens
Data Type Other Type of Genomic Data
Data Accessibility Controlled-access
BioProject PRJCA010840
Release Date 2022-07-29
Submitter Minyue Dong (dongmy@zju.edu.cn)
Organization Women's hospital, School of Medicine, Zhejiang University
Submission Date 2022-07-28
2Files & Download

The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.

File ID File Title Number/Samples File Type File Size File Suffix Download Times Download
OMIX001409-01 SNP array 1 Other Type of Genomic Data 65.8 MB CEL 0 Unavailable
OMIX001409-02 SNP-array 1 Other Type of Genomic Data 65.8 MB CEL 0 Unavailable
OMIX001409-02 SNP-array 1 Other Type of Genomic Data 65.8 MB CEL 0 Unavailable
OMIX001409-04 NIPT results 1 Other Type of Genomic Data 29.5 KB xls 0 Unavailable
OMIX001409-05 karyotype 1 Other Type of Genomic Data 342.6 KB rar 0 Unavailable
OMIX001409-06 SNP array-002 1 Other Type of Genomic Data 65.8 MB CEL 0 Unavailable

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