Prenatal ultrasonic diagnostic features analysis and literature review of 22q11.2 microdeletion syndrome

doi:10.3877/cma.j.issn.2095-655X.2020.01.007

Abstract

Abstract:

Objective

To investigate the prenatal ultrasonic diagnostic features of 22q11.2 microdeletion syndrome.

Methods

The prenatal ultrasound data of a case of 22q11.2 microdeletion syndrome confirmed by amniocentesis and pathological anatomy in the Department of Ultrasound, Laizhou Maternity & Child Healthcare Hospital on July 29, 2019 were analyzed retrospectively, and the literatures were reviewed.

Results

The prenatal echocardiography of 22q11.2 microdeletion showed abnormal cardiac axis, perimembranous ventricular septal defect, widened aorta straddling the interventricular septum, constricting pulmonary artery, aortic arch on the right side of trachea, mirror distribution of the brachiocephalic artery, absence of ductus arteriosus and thymus hypoplasia. Genetic examination showed a 2.58Mb deletion at 22q11.21. Pathological anatomy confirmed the diagnosis of Tetralogy of Fallot, right aortic arch with mirror distribution of brachiocephalic artery, absence of ductus arteriosus, and thymus hypoplasia.

Conclusions

Microdeletion of 22q11.2 is a common microdeletion syndrome with various phenotypes. Ultrasonic examination is noninvasive and simple, which can provide imaging evidence for prenatal diagnosis of 22q11.2 microdeletion.

Key words: 22q11.2 microdeletion, Fetus, Congenital heart disease, Ultrasonography, Diagnostics

Zedong Luan, Xiaoping Zhang, Yanli Zou, Xiaoyan Wang, Yaqin Liu, Songyang Li, Haoling Wang. Prenatal ultrasonic diagnostic features analysis and literature review of 22q11.2 microdeletion syndrome[J]. Chinese Journal of Diagnostics(Electronic Edition), 2020, 08(01): 32-36.

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