Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome

doi:10.37015/AUDT.2024.240036

Abstract

Abstract:

A heterozygous microdeletion of chromosome 7q11.23 causes the rare neuropsychiatric developmental disorder Williams-Beuren Syndrome. The syndrome is more difficult to diagnose before birth than after, even though the syndrome often manifests prenatally as intrauterine growth restriction and cardiovascular defects on prenatal ultrasonography. The potentially poor prognosis of affected individuals highlights the need to improve prenatal diagnosis of the syndrome. This review summarizes recent advances in our understanding of the genetics of Williams-Beuren Syndrome and its manifestations on prenatal ultrasonography, which may facilitate its early detection and inform prenatal genetic counseling.

Key words: Williams syndrome; Genetics; Ultrasonography; Prenatal diagnosis

Shanqing Li, MM, Rong Hu, MM, Xijing Liu, MD, Fan Yang, MD. Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome. Advanced Ultrasound in Diagnosis and Therapy, 2024, 8(3): 79-85.

Figures/Tables 1

Table 1

Intrauterine phenotypic features of fetuses with Williams-Beuren Syndrome in our literature review."

ID	Reference	Phenotypic features
1	Dadelszen P, et al 2000	SVAS, PAS, absence of diastolic of UA, fetal hydrops
2	Kontos, et al 2008	VSD
3	Krzeminska, et al 2009	IUGR, SVAS, echogenic bowel
4	Popowski, et al 2011	IUGR, SVAS, nasal bone dysplasia
5	Marcato, et al 2014	IUGR, echogenic bowel
		IUGR, nasal bone dysplasia
		IUGR, omphalocele
6	Chen, et al 2016	IUGR, polycystic dysplastic kidney
7	Kobalka, Mrak, Gunning 2017	AC, cardiomegaly
8	Srinivasan, Howley, Cuneo, Chatfield 2018	IUGR, SVAS, PAS
9	Li, et al 2019	Polyhydramnios
10	Liu, et al 2019	IUGR, tricuspid regurgitation
10	Liu, et al 2019	IUGR, PAS, mitral regurgitation, tricuspid regurgitation, enlarged left ventricule
11	Yuan, Deng, Yang, Sun 2020	IUGR, VSD
		IUGR, IEF, SUA
		IUGR
		IUGR, VSD
		IUGR, AC, PLSVC
		IUGR
		IUGR, RAA
12	Dang, et al 2020	NO
		Thickened NF
		Coronary veins widened, small amount of pericardial effusion, IEF
		Fetal right ventricle slant, tricuspid regurgitation
		Polycystic dysplastic kidney
13	Zhou, et al 2021	PLSVC, elevated S/D
		IUGR
		IUGR
		VSD, small gallbladder
		NO
		Bilateral pleural effusion, fetal hydrops
		SUA
		Fetal cerebral ventriculomegaly, widened fetal renal pelvis
		IUGR
		DA
14	Ji, Xu 2021	PLSVC, AC, left heart deviation, echogenic bowel
15	Huang, et al 2022	Polycystic dysplastic kidney
		AC
		DA
		TOF, SVAS, RAA
		VSD, AC
		IUGR, PAS
		IUGR
		VSD
16	Zhai, et al 2022	IUGR, IEF
16	Zhai, et al 2022	IUGR
17	Chen, et al 2022	IUGR, Polycystic dysplastic kidney
18	Wang, et al 2023	IUGR, PLSVC, elevated blood flow rate in the aortic valve
		IUGR, elevated S/D, absence of diastolic flow in the MCA
		IUGR, elevated S/D, thickened NT
		IUGR
		IUGR, elevated S/D
		Elevated S/D, polyhydramnios, bilateral subependymal cysts, fetal hydrops
		IUGR, RAA
		RAA, thickened NT, fetal hydrops
		IUGR, enlarged right atrium, absence of diastolic SUA, absence of venous duct
		Left pleural effusion
		IUGR, RAA, elevated S/D, DA
		Thickened NF, low-lying CM, limb abnormalities
		NO
		IUGR, VSD
19	Luo, He 2023	SVAS, PAS

Table 1

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