case_images: PMC8496901_01
case_images: Fetal growth curve.
case_images: fgene-12-696624-g0001.jpg
case_images: PMC8496901_01_fgene-12-696624-g0001.jpg
case_images: F1
case_images: The biparietal diameter was 5.9 cm (-1.67SD), the head circumference was 20.6 cm (-3.11SD), the abdominal circumference was 18.1 cm (-2.55SD) and the length of femur was 3.7 cm (-4SD) (Figure 1).
case_images: (A) Transabdominal scan performed at 25 weeks 4 days in coronal plane: the cleft lip appeared as an anhecogenic area at the level of the left upper lip. (B) Transverse section of fetal chest at 25 weeks 4 days: the red arrow pointed to the defect between the left atrium (LA) and the coronary sinus (CS). (C) The three-vessel and tracheal (3VT) view at the upper mediastinum showed a supernumerary vessel to the left of the pulmonary trunk and arterial duct. The red arrow pointed to the persistent left superior vena cava (PLSVC) draining into the right atrium.
case_images: fgene-12-696624-g0002.jpg
case_images: PMC8496901_01_fgene-12-696624-g0002.jpg
case_images: F2
case_images: The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate (Figure 2A); (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) unroofed coronary sinus syndrome (Figure 2B); (8) coronary sinus dilatation with persistent left superior vena cava (Figure 2C); (9) membranous ventricular septal defect; (10) main pulmonary artery was dilated with inner diameter 7.6 mm, both branch pulmonary arteries arise from the right side of main pulmonary artery.
case_images: Single nucleotide polymorphism (SNP) array results of the fetus: the red rectangle showed the deletion region of 1q23.3q31.2.
case_images: fgene-12-696624-g0003.jpg
case_images: PMC8496901_01_fgene-12-696624-g0003.jpg
case_images: F3
case_images: The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate (Figure 2A); (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) unroofed coronary sinus syndrome (Figure 2B); (8) coronary sinus dilatation with persistent left superior vena cava (Figure 2C); (9) membranous ventricular septal defect; (10) main pulmonary artery was dilated with inner diameter 7.6 mm, both branch pulmonary arteries arise from the right side of main pulmonary artery. The CMA results of the fetus (Figure 3) revealed a 28.025-Mb deletion at 1q23.3q31.2 containing 115 OMIM genes (chr1:164,559,675-192,584,768), which was classified as pathogenic.