Results
Among stillbirth fetuses included in this study (n=387), there were 60
(15.6%) with abnormal CNVs (40 [10.3%] with pathogenic, and 20
[5.2%] with VOUS CNVs) and 327 (84.5%) with normal CNVs.
Comparisons of proportions showed that stillborn fetuses with abnormal
CNVs tended to be born to older women, of Hispanic ethnicity, and
anomalous in comparison to those with normal CNVs (Table 1 ).
Stillborn fetuses with abnormal CNVs did not differ from those with
normal CNVs in regard to other socio-economic factors, parity, fetal
sex, maternal chronic hypertension, preeclampsia, diabetes and
gestational diabetes.
The proportion of stillborn fetuses with maternal vascular pathological
lesions was higher among those with abnormal CNVs in comparison to those
with normal CNVs (81.7% vs. 64.2%; p=0.008; Figure 1 ;Table S2 ). However, the proportions of stillborn fetuses with
fetal or any (i.e. fetal or maternal) vascular pathological lesions
among those with abnormal CNVs were similar in comparison to those with
normal CNVs (78.3% vs. 77.1%; p=0.8, 95.0% vs. 90.8%; p=0.3,
respectively). Furthermore, the proportions of stillborn fetuses with
maternal inflammatory, fetal inflammatory, any inflammatory or
immune/idiopathic placental pathological lesions among those with
abnormal CNVs were similar in comparison to those with normal CNVs
(25.0% vs. 33.3%; p=0.2, 11.7% vs. 15.6%; p=0.4, 28.3% vs. 36.2%;
p=0.2, and 15.8% vs. 10.4; p=0.3, respectively). Pathogenic deletion
CNVs (n=4) in three stillborn fetuses and pathogenic duplication CNVs
(n=4) in five stillborn fetuses with maternal vascular pathological
lesions were identified (Table 2 ). Two stillborn fetuses with
maternal vascular pathological lesions also had VOUS deletions CNVs
(n=3), and thirteen stillborn fetuses with maternal vascular
pathological lesions had VOUS duplications CNVs (n=14) (Table
S3 ). Three stillborn fetuses with maternal vascular pathological
lesions had multiple abnormal CNVs. Specifically, CNV 22q11.21 deletion,
16p13.11 duplication, and 4q32.3q35.2 and 17p13.3 were identified in
stillborn fetuses with maternal vascular pathological lesions. The
deletions and duplications each involved several genes, including theMYH11 (myosin heavy chain 11) and HNF1B (hepatocyte
nuclear factor 1B) genes.