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中华妇幼临床医学杂志(电子版)

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2025, Vol. 21 ›› Issue (03): 285 -295. doi: 10.3877/cma.j.issn.1673-5250.2025.03.006

Special Issue: ；

Original Article

Prenatal ultrasonographic features and genetic characteristics of fetus with Williams-Beuren syndrome

Bixia Wang1, Shanqing Li1, Xijing Liu2, Rong Hu1, Fan Yang1,3,†()   

  1. 1Department of Ultrasound, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
    2Department of Medical Genetics/Prenatal Diagnostic Center, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
    3Department of Ultrasound, Chengdu Chenghua District Health Care Hospital, Chengdu 610051, Sichuan Province, China
  • Received:2025-02-13 Revised:2025-05-03 Published:2025-06-01
  • Corresponding author: Fan Yang
  • Supported by:
    National Key Research and Development Program of China(2022YFC2703302)
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Objective

To explore the prenatal ultrasonographic and genetic characteristics of fetus with Williams-Beuren syndrome (WBS) and provide basis for prenatal diagnosis.

Methods

A total of 25 pregnant women (one of them was a twin pregnancy) underwent prenatal examination and 25 fetuses (fetus 1 to 25, one of them was one of twins) diagnosed with WBS by chromosomal microarray analysis (CMA) at West China Second University Hospital, Sichuan University, from October 2018 to June 2023 were included in this study, and the clinical case data were retrospectively analyzed. A literature review was conducted by searching domestic and foreign databases for clinical studies related to the prenatal diagnosis of WBS. Prenatal sonographic findings, genetic test results, and pregnancy outcomes of WBS fetuses were summarized. The study procedures complied with the ethical standards of the World Medical Association Declaration of Helsinki revised in 2013.

Results

① Among the 25 WBS fetuses in this study, 18 cases (72.0%, 18/25) had prenatal ultrasound findings, with cardiovascular abnormalities (55.6%, 10/18) being the most common, primarily including intracardiac echogenic foci and ventricular septal defects (VSD); followed by fetal growth restriction (FGR) (38.9%, 7/18). The length of the chromosomal deletion in the 25 WBS fetuses ranged from 1.39 to 23.41 Mb, of which 23 (92.0%) exhibiting deletions of 1.39 to 1.50 Mb. Parental verification in 7 cases of WBS fetuses revealed that the genovariation of 4 cases were de novo, 2 were maternally inherited, and one was paternally inherited. ② Literature retrieval results: According to the retrieval strategy set in this study, a total of 48 clinical studies about prenatal diagnosis of WBS fetus at home and abroad were retrieved, involving 173 WBS fetuses. Among these, 166 cases (93.8%) had prenatal phenotypes, mainly including FGR (49.4%, 82/166) and cardiovascular abnormalities (44.6%, 74/166, predominantly VSD and aortic stenosis). In 157 fetuses, 158 chromosomal deletions were identified, and the length of deletion was mainly 1.06-1.54 Mb (74.7%, 118/158). Among 90 fetuses underwent family validation, 74 cases (82.2%) were de novo, 13 cases (14.4%) were maternally inherited, and 3 cases (3.3%) were paternally inherited. ③ A comprehensive analysis of 166 cases of literature retrieval and 25 cases of this study, a total of 191 WBS fetuses were confirmed the diagnosis with the main genetic testing methods of CMA (85.3%, 163/191), fluorescence in situ hybridization (FISH) (22.0%, 42/191), and quantitative fluorescent-polymerase chain reaction (QF-PCR) (12.0%, 23/191), etc.. ④ Among the 184 WBS fetuses (18 cases of this study and 166 cases of literature retrieval) with available prenatal ultrasound results, the incidence rates of left ventricular outflow tract obstruction was 16.9% (31/184), VSD was 9.8% (18/184), and intracardiac echogenic foci was 9.2% (17/184).

Conclusions

Left ventricular outflow tract obstruction, including aortic stenosis, coarctation of aorta, etc., may be a prenatal sonographic feature of WBS fetus, while FGR is the most common nonspecific prenatal manifestation of WBS fetus.

Key words: Williams syndrome, Prenatal diagnosis, Ultrasonography, prenatal, Fetal growth retardation, Ventricular outflow obstruction, left, Genetic counseling, Fetus
表1 本研究25例孕妇及其WBS胎儿的产前诊断相关临床资料比较
胎儿编号(No.) 孕妇年龄(岁) 孕妇孕龄(周)b 介入性产前诊断指征 胎儿CMA检测结果 胎儿染色体缺失片段长度(Mb)
1 25 18 胎儿唐氏综合征高风险，NIPT提示7q11.23缺失综合征高风险 arr[hg19] 7q11.23(62569502_85976321)x1 23.41
2 25 17 孕妇WBS及智力低下，因胎儿WBS终止妊娠1次 arr[hg19] 7q11.23(72687222_74141493)x1 1.45
3 30 17＋2 胎儿唐氏综合征高风险，胎儿超声结果未见异常 arr[hg19] 7q11.23(72704682_74141493)x1 1.44
4 32 24＋4 胎儿左侧多囊性发育不良肾，颈椎发育不良，血管环，三尖瓣反流，心包积液 arr[hg19] 7q11.23(72704682_74141493)x1 1.44
5 37 24＋6 孕妇高龄，产前胎儿超声检查结果未见异常 arr[hg19] 7q11.23(72621463_74298268)x1 1.67
6 23 19＋2 孕妇智力障碍，产前胎儿超声检查结果未见异常 arr[hg19] 7q11.23(72704682_74141493)x1 1.44
7 39 27＋3 孕妇高龄，胎儿心室点状强回声 arr[hg19] 7q11.23(72718124_74141493)x1 1.42
8 39 19＋6 孕妇高龄及智力低下 arr[hg19] 7q11.23(72704682_74141493)x1 1.44
9 24 24＋4 FGR arr[hg19] 7q11.23(72704682_74141493)x1 1.44
10 20 19＋3 孕妇及其丈夫智力障碍 arr[hg19] 7q11.23(72713282_74136633)x1 1.42
11 29 23＋6 FGR，胎儿VSD，NF增厚 arr[hg19] 7q11.23(72659097_74154209)x1 1.50
12 26 23＋3 胎儿左室点状强回声 arr[hg19] 7q11.23(72723370_74136633)x1 1.41
13 26 30＋5 FGR，胎儿VSD，左室点状强回声 arr[hg19] 7q11.23(72692113_74136633)x1 1.44
14 30 31＋3 FGR arr[hg19] 7q11.23(72713283_74136633)x1 1.42
15 31 29 FGR，胎儿脐动脉S/D升高 arr[hg19] 7q11.23(72713283_74136633)x1 1.42
16 29 26＋6 胎儿永存左上腔静脉，冠状静脉窦扩张 arr[hg19] 7q11.23(72723371_74136633)x1 1.41
17 21 25＋5 孕妇智力低下，FGR，胎儿胆囊测值偏小 arr[hg19] 7q11.23(72700468_74141493)x1 1.44
18 32 24＋3 FGR，胎儿三尖瓣反流，脐动脉S/D升高 arr[hg19] 7q11.23(72701099_74154209)x1 1.45
19 39 19＋3 高龄，孕妇α地中海贫血 arr[hg19] 7q11.23(72701098_74141494)x1 1.44
20 39 23 高龄，胎儿左室点状强回声，右侧多囊性发育不良肾 arr[hg19] 7q11.23(72723370_74136633)x1 1.41
21 25 24＋5 VSD，胎儿左室点状强回声 arr[hg19] 7q11.23(72713282_74154209)x1 1.44
22 34 26＋3 胎儿血管环，双心室点状强回声 arr[hg19] 7q11.23(72713282_74136633)x1 1.42
23a 38 25＋1 高龄，IVF，产前胎儿超声未见异常 arr[hg19] 7q11.23(72745047_74138459)x1 1.39
24 32 21＋3 胎儿唐氏综合征高风险 arr[hg19] 7q11.23(72745047_74138459)x1 1.39
25 25 19＋6 孕妇智力障碍，丈夫及其母亲唇裂 arr[hg19] 7q11.23(72745047_74138459)x1 1.39
图1 胎儿11(胎龄为23＋6周)与胎儿15(胎龄为29周)的产前胎儿超声图像[图1A、1B：分别为胎儿11四腔心切面室间隔缺损(箭头所示)、小脑水平横切面显示颈项皱褶厚度增厚(箭头所示)；图1C：胎儿15脐动脉血流频谱S/D增高]
表2 184例WBS胎儿的产前超声结果比较[例数(%)]
产前胎儿超声结果 18例本研究胎儿 166例文献复习报道胎儿 产前胎儿超声结果 18例本研究胎儿 166例文献复习报道胎儿
FGR 7(38.9) 82(49.4) 泌尿生殖系统异常 2(11.1) 13(7.8)
心血管异常 10(55.6) 74(44.6) 多囊性发育不良肾 2(11.1) 6(3.6)
主动脉狭窄 0(0) 15(9.0) 单侧肾发育不良/不发育 0(0) 3(1.8)
主动脉缩窄 0(0) 6(3.6) 异位肾 0(0) 2(1.2)
主动脉弓发育不良 0(0) 6(3.6) 马蹄肾 0(0) 1(0.6)
主动脉弓离断 0(0) 2(1.2) 肾盂轻度分离 0(0) 1(0.6)
主动脉瓣血流速度增快 0(0) 3(1.8) 隐睾 0(0) 1(0.6)
肺动脉狭窄 0(0) 12(7.2) 骨骼肌肉系统异常 1(5.6) 12(7.2)
肺动脉发育不全 0(0) 1(0.6) 长骨短 0(0) 8(4.8)
肺动脉瓣上血流速度增快 0(0) 1(0.6) 颈椎发育不良 1(5.6) 0(0)
主、肺动脉比例失调 0(0) 1(0.6) 先天性垂直距骨 0(0) 1(0.6)
VSD 3(16.7) 15(9.0) 全身性肌张力低下 0(0) 1(0.6)
心内强回声 6(33.3) 11(6.6) 手部姿势异常 0(0) 1(0.6)
永存左上腔静脉 1(5.6) 10(6.0) 足内翻 0(0) 1(0.6)
三尖瓣反流 2(11.1) 7(4.2) 神经系统异常 0(0) 10(6.0)
心脏扩大 0(0) 8(4.8) 室管膜下囊肿 0(0) 3(1.8)
心室肥厚 0(0) 5(3.0) 脉络丛囊肿 0(0) 2(1.2)
左心偏小 0(0) 4(2.4) 大脑半球间囊肿 0(0) 1(0.6)
血管环 2(11.1) 4(2.4) 胼胝体形态异常 0(0) 1(0.6)
动脉导管病变 0(0) 3(1.8) 侧脑室稍增宽 0(0) 1(0.6)
心功能障碍 0(0) 3(1.8) 脊髓圆锥位置低 0(0) 1(0.6)
右位主动脉弓 0(0) 2(1.2) 右侧脑室额角低回声 0(0) 1(0.6)
右室双出口 0(0) 2(1.2) 胎盘多普勒指数异常 2(11.1) 10(6.0)
单心室 0(0) 1(0.6) S/D值增高 2(11.1) 8(4.8)
左心发育不良综合征 0(0) 1(0.6) 舒张末期血流缺失 0(0) 3(1.8)
法洛四联症 0(0) 1(0.6) 颜面部异常 0(0) 9(5.4)
冠状静脉扩张 0(0) 1(0.6) 鼻骨发育不良/不发育 0(0) 4(2.4)
永存右脐静脉 0(0) 1(0.6) 面部畸形 0(0) 4(2.4)
静脉导管缺如 0(0) 1(0.6) 右侧鼻泪管囊肿 0(0) 1(0.6)
具体不详 0(0) 2(1.2) 伸舌 0(0) 1(0.6)
水肿、积液、NT/NF增厚 2(11.1) 18(10.8) 腹壁中线结构异常(脐膨出) 0(0) 3(1.8)
皮肤水肿 0(0) 5(3.0) 胸腔异常(肺囊腺瘤) 0(0) 2(1.2)
浆膜腔积液 1(5.6) 9(5.4) 附属结构异常 0(0) 19(11.4)
NT/NF增厚 1(5.6) 10(6.0) 羊水过多 0(0) 13(7.8)
消化系统异常 1(5.6) 14(8.4) 单脐动脉 0(0) 6(3.6)
肠管回声增强 0(0) 6(3.6) 产前胎儿超声未见异常 4(22.2) 5(3.0)
十二指肠闭锁/梗阻/畸形 0(0) 5(3.0)      
胆囊小 1(5.6) 2(1.2)      
肝实质/肝内导管壁回声增强 0(0) 1(0.6)      
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