Application of copy number variation sequencing for prenatal diagnosis in women at an advanced maternal age / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 533-537, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771975
ABSTRACT
OBJECTIVE@#To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age.@*METHODS@#A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.@*RESULTS@#For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb).@*CONCLUSION@#Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Prospective Studies
/
Chromosome Aberrations
/
Maternal Age
/
Chromosome Disorders
/
DNA Copy Number Variations
Type of study:
Diagnostic study
/
Observational study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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