Analysis of the effect of expanded non-invasive prenatal testing in prenatal screening population during pregnancy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1041-1044, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-921993
ABSTRACT
OBJECTIVE@#To explore the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for prenatal screening.@*METHODS@#The screening result, prenatal diagnosis and pregnancy outcome of 3700 pregnant women who volunteered NIPT-plus screening at our center from September 2018 to December 2019 were reviewed.@*RESULTS@#Among the 3700 pregnant women, 74(2.0%) were scored positive for clinically significant fetal chromosomal abnormalities and underwent NIPT-plus screening. Sixty three women with a high risk underwent invasive prenatal diagnosis, among whom 19 were diagnosed, which yielded a positive predictive value (PPVs) of 30.2% (19/63). Statistical analysis showed that NIPT-plus has higher PPVs for common aneuploidies and low-to-medium PPVs for sex chromosome aneuploidies and microdeletion/microduplication syndromes.@*CONCLUSION@#As a screening technique, NIPT-plus has broader applications compared with conventional techniques, and has reference value for clinicians and pregnant women during pregnancy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Sex Chromosome Aberrations
/
Pregnancy Outcome
/
Chromosome Aberrations
/
Aneuploidy
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS