PMC6103979_01
karyotypes of fetuses and parents. a karyotyping of the first fetus; b: karyotyping of the second fetus; c and (d): results of karyotyping of the parents, respectively
13039_2018_393_Fig1_HTML.jpg
PMC6103979_01_13039_2018_393_Fig1_HTML.jpg
Fig1
There were no gross abnormal findings in fetal and parental karyotypes (Fig. 1a, c and d). No gross abnormalities identified in fetal karyotype (Fig. 1b).
CNV seq results of two fetuses. a CNV-seq result of fetus 1: arr [GRCh37] 4p15.2p16.3 (4001-23,300,000) x 1, 4q32.3 q35.2 (167040001-190,940,000) x 3. b CNV-seq result of fetus 2: arr [GRCh37] 4p15.2 p16.3(40001-23,320,000) x 3, 4q32.3 q35.2 (167040001-190,940,000) x 1
13039_2018_393_Fig2_HTML.jpg
PMC6103979_01_13039_2018_393_Fig2_HTML.jpg
Fig2
However, the fetal CNV-seq results were abnormal: arr [GRCh37] 4p15.2p16.3 (4001-23,300,000) x 1, 4q32.3q35.2 (167040001-190,940,000) x 3(Fig. 2a). However, the abnormal CNV-seq results for the second fetus were: arr [GRCh37] 4p15.2p16.3 (40001-23,320,000) x 3, 4q32.3q35.2 (167040001-190,940,000) x 1, (Fig. 2b).
ultrasound findings of the first fetus. a increased nuchal fold with septation; b hydrothorax; c bilateral mild ventriculomegaly
13039_2018_393_Fig3_HTML.jpg
PMC6103979_01_13039_2018_393_Fig3_HTML.jpg
Fig3
Fig. 3a, b and c). Fetal echocardiography was normal.
fetal echocardiography of the second fetus. a three vessels views in fetal echocardiography; b persistent trunk; c and (d) ventricular septal defect
13039_2018_393_Fig4_HTML.jpg
PMC6103979_01_13039_2018_393_Fig4_HTML.jpg
Fig4
Fetal echocardiography was offered shortly after the anomaly scan and revealed fetal ventricular septal defect, overriding aorta and persistent trunk (seen in Fig. 4a-d).