Copy number variants and placental abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.
BJOG
; 129(13): 2125-2131, 2022 12.
Article
in En
| MEDLINE
| ID: mdl-35876766
ABSTRACT
OBJECTIVE:
To examine the association of fetal/placental DNA copy number variants (CNVs) with pathologic placental lesions (PPLs) in pregnancies complicated by stillbirth.DESIGN:
A secondary analysis of stillbirth cases in the Stillbirth Collaborative Research Network case-control study.SETTING:
Multicenter, 59 hospitals in five geographical regions in the USA. POPULATION 387 stillbirth cases (2006-2008).METHODS:
Using standard definitions, PPLs were categorised by type including maternal vascular, fetal vascular, inflammatory and immune/idiopathic lesions. Single-nucleotide polymorphism array detected CNVs of at least 500 kb. CNVs were classified into two groups normal, defined as no CNV >500 kb or benign CNVs, and abnormal, defined as pathogenic or variants of unknown clinical significance. MAIN OUTCOMEMEASURES:
The proportions of abnormal CNVs and normal CNVs compared between stillbirth cases with and without PPLs using the Wald Chi-square test.RESULTS:
Of 387 stillborn fetuses, 327 (84.5%) had maternal vascular PPLs and 60 (15.6%) had abnormal CNVs. Maternal vascular PPLs were more common in stillborn fetuses with abnormal CNVs than in those with normal CNVs (81.7% versus 64.2%; P = 0.008). The proportions of fetal vascular, maternal/fetal inflammatory and immune/idiopathic PPLs were similar among stillborn fetuses with abnormal CNVs and those with normal CNVs. Pathogenic CNVs in stillborn fetuses with maternal vascular PPLs spanned several known genes.CONCLUSIONS:
Abnormal placental/fetal CNVs were associated with maternal vascular PPLs in stillbirth cases. The findings may provide insight into the mechanisms of specific genetic abnormalities associated with placental dysfunction and stillbirth.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Placenta Diseases
/
Stillbirth
Type of study:
Clinical_trials
/
Observational_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
BJOG
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2022
Document type:
Article
Affiliation country:
United States