The correlation between pCNV and ultrasonographic findings
Nine pCNV were significantly associated with ultrasonographic anomalies,
and no pCNV was significantly associated with soft markers (Figure 1A).
As expected, 22q11.21, 15q11.2, and 16q11.2 deletions were significantly
associated with cardiovascular system, increased nuchal translucency,
and skeletal system, respectively (Figure 1B). The 17q12 deletion was
significantly associated with genitourinary system and abnormal amniotic
fluid. Fetuses with 7q11.23 and 18p11.31-p11.21 deletions were
significantly associated with cardiovascular system and increased nuchal
translucency, respectively. All fetuses with 5p15.33-p14.2, 7q35-q36.3,
and 13q31.1-q34 deletions, and 11q23.3-q25 and 9p24.3-p13.3 duplication,
showed significant association with central nervous system. Fetuses with
17p11.2 deletion were significantly associated with two soft markers,
including enlarged cisterna magna and mild ventriculomegaly. Fetuses
with 1q43-q44 deletion were associated with cardiovascular system and
central nervous system, and fetuses with 11q24.2-q25 deletion were
associated with cardiovascular system. Consistent with previous
studies,32, 33 4p16.3, 4p16.3-p15.2, and 4p16.3-p16.1
deletions were significantly associated with fetal growth restriction.
Interestingly, this is the first study to report that 4p16.3-p16.1,
13q33.3-q34, and 3p26.3-p26.1 deletions were significantly associated
with genitourinary system, respiratory system, and abdominal wall
defect, respectively. Furthermore, we firstly reported that 3q25.2-q29
duplication was associated with cystic hygroma and abdominal wall defect
(Figure 1B).