PMC9423720_01
(A, B) 4D ultrasound scan showed the anterior solid neck mass of the fetus; (C) MRI of a nearly round heterogeneous tumor in front of the fetal neck with T2W image causing compression of the lung; (D, E) front and side views of the fetus with a prominent huge neck mass; (F-H) The map of copy number variation sequencing; (F) the father; (G) the mother; (H) the fetus in the first pregnancy.
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The tumor could still be visualized in the anterior region of the neck after a week, reaching the mandible and clavicle, and caused hyperextension of the fetal neck ( Figure 1A ). Unfortunately, 4D ultrasound scan found that the neck mass was bigger (98 mm x 40 mm x 62 mm) 4 weeks later ( Figure 1B ). T2W images. The mass had a distinct border and caused compression of the lung ( Figure 1C ). At last, a female fetus with a huge cervical tumor was delivered through vagina at the 25th week of gestation ( Figures 1D,E ). Figures 1F-H ). Furthermore, this CNV occurred on the chromosome inherited from the mother, and it was probably new-onset.
(A-F) show H&E-stained tissue sections. (A) Necrotizing inflammation in chorionic and amniotic membranes was seen in the fetal placenta; (B) fibrin deposition in chorion was seen in the fetal placenta; (C) thrombosis in chorionic blood vessels was seen in the fetal placenta; (D) immature cartilage was seen in the fetal tumor; (E) primitive neural tubes were seen in the fetal tumor; (F) eosinophilic epithelial cells were seen in the fetal tumor.
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In terms of placenta tissue, some necrotic inflammation was found in the chorionic and amniotic membrane ( Figure 2A ). Histology of placenta showed increased fibrin deposition and thrombosis in chorionic blood vessels ( Figures 2B,C ). A large number of immature cells were seen by the microscope, such as immature cartilage ( Figure 2D ). The composition of teratoma was complex, including primitive neural tube and eosinophilic epithelial cells ( Figures 2E,F ).
(A-C) The map of copy number variation sequencing of the first fetus in the second pregnancy; (D) both aorta and pulmonary artery originate from the right ventricle; (E) ventricular septal defect; (F) the complementary strand of point mutation on the neonate.
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College of Medical Genetics and Genomics (ACMG) were both not detected. Copy number and SNP analysis identified at least 7.19 Mb of duplicated variation in the 14q24.1q24.3 region (x3) ( Figures 3A-C ). At her 21st week of gestation, 4D ultrasound scan demonstrated complex congenital heart malformations in the fetus with copy number variation ( Figures 3D,E ). The mutation was inherited from his mother, who was heterozygous ( Figure 3F ).