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Differences in imaging evaluation of fetal lateral ventricle and (or) posterior cerebral fossa cistern enlargement with pathogenic copy number variation |
ZHAO Shunbiao1, HONG Weifeng1, WANG Rongyue2,XIA Jianli1, XU Min1, HUANG Deyi1, ZHAO Yaping2, XU Chongyong2 |
1.Department of Radiology, Yuhuan People’s Hospital, Taizhou 317600, China; 2.Department of Radiology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou 325027, China |
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Cite this article: |
ZHAO Shunbiao,HONG Weifeng,WANG Rongyue, et al. Differences in imaging evaluation of fetal lateral ventricle and (or) posterior cerebral fossa cistern enlargement with pathogenic copy number variation[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2021, 51(12): 980-984.
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Abstract Objective: To investigate the difference between the imaging evaluation of fetal lateral ventriculomegaly (VM) and/or posterior cerebral fossa cistern enlargement (PCFCE) and pathogenic copy number variants (CNVs). Methods: From January 2015 to October 2020, the fetuses diagnosed with VM and/or PCFCE were collected from the Second Affiliated Hospital of Wenzhou Medical University and Yuhuan People’s Hospital by prenatal ultrasound. A total of 1 114 cases, of which 468 fetuses underwent MRI and karyotype analysis (16-24 week, amniotic fluid detection in 317 cases; 24-38 week, cord blood test in 151 cases), and 440 fetuses with normal karyotype underwent whole-genome high-resolution chromosome microarray analysis (CMA) detection.Difference between fetal VM and/or PCFCE degree with malformations in all systems and CNVs was analyzed,pregnancy outcome was evaluated. Results: Among 468 fetuses, the incidence rate in abnormal chromosomal karyotypes was 5.98% (28/468), of which 11 were abnormal in number, 10 in structure, 7 in number+structure,and all 28 cases induced labor; Among 440 fetuses with normal karyotype, the incidence of pathogenic CNVs was 8.41% (37/440). Among 440 fetuses with normal karyotype, the incidence of pathogenic CNVs in severe VM and/or PCFCE group was higher than that in mild to moderate group (13.71% vs. 6.33%, P=0.012).The incidence of pathogenic CNVs among simple VM, simple PCFC and VM+PCFCE was VM+PCFCE >simple PCFCE > simple VM (12.14% vs. 11.69% vs. 4.93%, P=0.029). Among 37 cases of CNVs, 5 cases were complicated with central nervous system malformation, 4 cases were complicated with genitourinary system, 5 cases were complicated with cardiac macrovascular malformation, 2 cases were complicated with digestive system malformation. The incidence of fetal malformation in severe VM and/or PCFCE group was higher than that in mild to moderate group (7.26% vs. 2.22%, P=0.020). Among the 37 fetuses with pathogenic CNVs, 23 cases were induced labor and 14 cases were delivered. Conclusion: The incidence of pathogenic CNVs and fetal malformations was higher in severe VM and/or PCFCE group, and the pathogenic CNVs in VM+PCFCE group was higher than that in simple VM or PCFCE group. Accurate imaging evaluation is helpful for intrauterine outcome, clinical evaluation and genetic counseling of VM and/or PCFCE fetuses.
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Received: 16 August 2021
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