Main findings
Based on 43,721 fetuses recruited, this study had three main principle
findings. First, the yields of pCNV detected by low pass GS in fetuses
with ultrasonographic anomalies and soft markers were 6.24% and 3.64%,
respectively, consistent with previous results obtained by CMA.7, 23 Second, ten of the 12 ultrasonographic anomalies
had significantly higher yields of pCNV, except for fetal hydrops and
abnormal amniotic fluid, of which the gastrointestinal, facial,
respiratory systems and abdominal wall defect are rarely reported.
Similarly, five of the 12 soft markers had significantly higher yields
of pCNV, with single umbilical artery being rarely reported. Third, 51
significant pCNV-ultrasonography associations were observed and
described in this study, of which 4p16.3-p16.1 deletion, 3p26.3-p26.1,
13q33.3-q34 deletions and 3q25.2-q29 duplication were firstly reported
to be associated with genitourinary system, abdominal wall defect,
respiratory system, and cystic hygroma and abdominal wall defect,
respectively.