Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 335-338, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879580
ABSTRACT
OBJECTIVE@#To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.@*METHODS@#Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.@*RESULTS@#Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.@*CONCLUSION@#NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Trisomy
/
Pregnancy Outcome
/
DNA Copy Number Variations
/
Mosaicism
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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