Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.
Sci Rep
; 14(1): 238, 2024 01 02.
Article
in En
| MEDLINE
| ID: mdl-38168635
ABSTRACT
Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases. Furthermore, noninvasive prenatal testing results of the 5 patients revealed a high risk of rare autosomal trisomy. Trio-WES showed no copy-number variations (CNVs) or nondisease-causing mutations associated with FGR. Among the 5 women with FGR, two showed gene imprinting, and two exhibited confined placental mosaicism (CPM) by copy number variant sequencing (CNV-seq). The present study showed that in FGR patients with UPD, the detection of imprinted genes and CPM could enhance the genetic diagnosis of FGR.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Placenta
/
Uniparental Disomy
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Sci Rep
Year:
2024
Document type:
Article
Affiliation country:
China
Country of publication:
United kingdom