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中华妇幼临床医学杂志(电子版)

中华妇幼临床医学杂志(电子版) ›› 2025, Vol. 21 ›› Issue (03) : 285 -295. doi: 10.3877/cma.j.issn.1673-5250.2025.03.006

所属专题： 文献；

论著

Williams-Beuren综合征胎儿产前超声特征及遗传学特点
王碧瑕1, 李善情1, 刘希婧2, 胡蓉1, 杨帆1,3,†()   
  1. 1四川大学华西第二医院超声科、出生缺陷与相关妇儿疾病教育部重点实验室，成都　610041
    2四川大学华西第二医院医学遗传科/产前诊断中心、出生缺陷与相关妇儿疾病教育部重点实验室，成都　610041
    3成都市成华区妇幼保健院超声科，成都　610051
  • 收稿日期:2025-02-13 修回日期:2025-05-03 出版日期:2025-06-01
  • 通信作者: 杨帆

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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引用本文：

王碧瑕, 李善情, 刘希婧, 胡蓉, 杨帆. Williams-Beuren综合征胎儿产前超声特征及遗传学特点[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(03): 285-295.

Bixia Wang, Shanqing Li, Xijing Liu, Rong Hu, Fan Yang. Prenatal ultrasonographic features and genetic characteristics of fetus with Williams-Beuren syndrome[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2025, 21(03): 285-295.

目的

探讨Williams-Beuren综合征(WBS)胎儿的产前超声和遗传学特征，为产前诊断提供依据。

方法

选择2018年10月至2023年6月于四川大学华西第二医院进行产前检查的25例孕妇(其中1例为双胎妊娠)及其经染色体微阵列分析(CMA)确诊的25例WBS胎儿(胎儿1～25，其中1例为双胎之一)为研究对象，回顾性分析其临床病例资料。检索国内外数据库中与WBS产前诊断相关的临床研究进行文献复习，对WBS胎儿的产前超声表现、遗传学检测结果和妊娠结局等进行总结。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。

结果

①本研究25例WBS胎儿中，18例(72.0%，18/25)的产前超声结果中，最常见为心血管异常(55.6%，10/18)，主要包括心内强回声灶和室间隔缺损(VSD)；其次为胎儿生长受限(FGR)(38.9%，7/18)。这25例WBS胎儿的25个染色体缺失片段长度为1.39～23.41 Mb，其中23个(92.0%)为1.39～1.50 Mb。对7例WBS胎儿进行家系验证的结果显示，4例胎儿的基因变异为新发变异、2例遗传自母亲、1例遗传自父亲。②文献检索结果：根据本研究设定的检索策略，检索到国内外对WBS胎儿进行产前诊断的相关临床研究文献共计48篇，涉及173例WBS胎儿。其中，166例(93.8%)WBS胎儿有产前表型，主要包括FGR(49.4%，82/166)，心血管异常(44.6%，74/166，以VSD和主动脉狭窄为主)；157例WBS胎儿存在158个染色体片段缺失，缺失长度主要为1.06～1.54 Mb(74.7%，118/158)；对90例进行家系验证的WBS胎儿中，74例(82.2%)为新发变异、13例(14.4%)遗传自母亲、3例(3.3%)遗传自父亲。③对文献检索166例＋本研究25例，共计191例WBS胎儿的综合分析结果显示，对其诊断主要采用的遗传检测方法包括CMA(85.3%，163/191)，荧光原位杂交(FISH)(22.0%，42/191)及荧光定量聚合酶链反应法(QF-PCR)(12.0%，23/191)等。④本研究18例＋文献检索166例具有产前超声检查结果的184例WBS胎儿中，左心室流出道梗阻发生率为16.9%(31/184)，VSD为9.8%(18/184)，心内强回声灶为9.2%(17/184)。

结论

左心室流出道梗阻(主动脉狭窄、主动脉缩窄等)，可能是WBS胎儿产前超声特征，FGR是WBS胎儿最常见非特异性产前表现。

关键词: 威廉斯综合征, 产前诊断, 超声检查，产前, 胎儿生长迟缓, 室性流出道阻塞, 遗传咨询, 胎儿
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)      
[1]
Strømme P, Bjømstad PG, Ramstad K. Prevalence estimation of Williams syndrome[J]. J Child Neurol, 2002, 17(4): 269-271. DOI: 10.1177/088307380201700406.
[2]
Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome[J]. American J Med Genetics Pt A, 2004, 127A(3): 234-237. DOI: 10.1002/ajmg.a.30012.
[3]
Kozel BA, Barak B, Kim CA, et al. Williams syndrome[J]. Nat Rev Dis Primers, 2021, 7(1): 42. DOI: 10.1038/s41572-021-00276-z.
[4]
Morris CA, Braddock SR, COUNCIL ON GENETICS, et al. Health care supervision for children with Williams syndrome[J]. Pediatrics, 2020, 145(2): e20193761. DOI: 10.1542/peds.2019-3761.
[5]
von Dadelszen P, Chitayat D, Winsor EJT, et al. De novo 46, XX, t(6；7)(q27；q11；23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrom[J]. Am J Med Genet, 2000, 90(4): 270-275. DOI: 10.1002/(sici)1096-8628(20000214)90:4<270::aid-ajmg2>3.0.co;2-r.
[6]
Kontos H, Manolakos E, Malligiannis P, et al. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening[J]. Prenat Diagn, 2008, 28(6): 556-558. DOI: 10.1002/pd.2020.
[7]
Krzeminska D, Steinfeld C, Cloez JL, et al. Prenatal diagnosis of Williams syndrome based on ultrasound signs[J]. Prenat Diagn, 2009, 29(7): 710-712. DOI: 10.1002/pd.2263.
[8]
Popowski T, Vialard F, Leroy B, et al. Williams-Beuren syndrome: the prenatal phenotype[J]. Am J Obstet Gynecol, 2011, 205(6): e6-e8. DOI: 10.1016/j.ajog.2011.09.017.
[9]
Gruchy N, Decamp M, Richard N, et al. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA[J]. Prenat Diagn, 2012, 32(4): 383-388. DOI: 10.1002/pd.2861.
[10]
Marcato L, Turolla L, Pompilii E, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome[J]. Clin Case Rep, 2014, 2(2): 25-32. DOI: 10.1002/ccr3.48.
[11]
Li L, Huang L, Luo Y, et al. Differing microdeletion sizes and breakpoints in chromosome 7q11.23 in Williams-Beuren syndrome detected by chromosomal microarray analysis[J]. Mol Syndromol, 2016, 6(6): 268-275. DOI: 10.1159/000443942.
[12]
刘洋，徐志勇，吴维青，等. 4例Williams-Beuren综合征家系遗传学诊断与产前诊断[J]. 中国当代儿科杂志，2015，17(12): 1267-1272. DOI: 10.7499/j.issn.1008-8830.2015.12.002.
[13]
Fu F, Chen F, Li R, et al. Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array[J]. Nephrol Dial Transplant, 2016, 31(10): 1693-1698. DOI: 10.1093/ndt/gfv465.
[14]
Zhu H, Lin S, Huang L, et al. Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction[J]. Prenat Diagn, 2016, 36(7): 686-692. DOI: 10.1002/pd.4844.
[15]
Borrell A, Grande M, Meler E, et al. Genomic microarray in fetuses with early growth restriction: a multicenter study[J]. Fetal Diagn Ther, 2017, 42(3): 174-180. DOI: 10.1159/000452217.
[16]
Kobalka AJ, Mrak RE, Gunning WT. A case report of in utero Williams syndrome arterial malformation[J]. Fetal Pediatr Pathol, 2017, 36(6): 452-456. DOI: 10.1080/15513815.2017.1379040.
[17]
Srinivasan S, Howley LW, Cuneo BF, et al. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy[J]. J Perinatol, 2018, 38(11): 1453-1456. DOI: 10.1038/s41372-018-0221-9.
[18]
李春艳，陈必良，燕凤，等. BACs-on-Beads技术对Williams-Beuren综合征的产前诊断[J]. 中国优生与遗传杂志，2018, 26(3): 17-18,封2.
[19]
阮琰，许晓光，徐丹萍，等. 羊水细胞高通量测序产前诊断Williams综合征[J]. 中国优生与遗传杂志，2018, 26(12): 53-54.
[20]
Maeda K, Kaji T, Nakaoku D, et al. EP10.29: prenatal diagnosis of Williams syndrome[J]. Ultrasound Obstet Gyne, 2018, 52(S1): 242. DOI: 10.1002/uog.19958.
[21]
Li C, Chen B, Zheng J, et al. Prenatal diagnosis of BACs-on-beads assay in 3 647 cases of amniotic fluid cells[J]. Reprod Sci, 2019, 26(7): 1005-1012. DOI: 10.1177/1933719118804416.
[22]
刘宁，魏振玲，杨娟，等. Williams-Beuren综合征胎儿产前诊断二例及文献复习[J]. 中华妇产科杂志，2019, 54(2): 120-122. DOI: 10.3760/cma.j.issn.0529-567x.2019.02.016.
[23]
刘晓伟，阮燕萍，谷孝艳，等. 胎儿心脏超声结合遗传学检测诊断Williams-Beuren综合征3例[J]. 中华超声影像学杂志，2019, 28(3): 272-274. DOI: 10.3760/cma.j.issn.1004-4477.2019.03.016.
[24]
罗彩群，刘洋，郝颖，等. 339例核型正常的颈项透明层增厚胎儿的染色体微阵列分析[J]. 中华围产医学杂志，2019, 22(8): 581-586. DOI: 10.3760/cma.j.issn.1007-9408.2019.08.009.
[25]
席娜，张竹，汪雪雁，等. 一例Williams-Beuren综合征孕妇的产前诊断[J]. 中华医学遗传学杂志，2019, 36(5): 495-497. DOI: 10.3760/cma.j.issn.1003-9406.2019.05.020.
[26]
赵艳辉，庞泓，冯小静，等. Williams-Beuren综合征胎儿的家系诊断及无创产前检测[J]. 中华医学遗传学杂志，2019, 36(3): 263-266. DOI: 10.3760/cma.j.issn.1003-9406.2019.03.018.
[27]
Dang Y, Wan S, Zheng Y, et al. The prenatal diagnosis of seven fetuses with 7q11.23 microdeletion or microduplication[J]. Fetal Pediatr Pathol, 2020, 39(4): 269-276. DOI: 10.1080/15513815.2019.1651802.
[28]
Yuan M, Deng L, Yang Y, et al. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review[J]. Ann Hum Genet, 2020, 84(2): 169-176. DOI: 10.1111/ahg.12360.
[29]
曾艳，杜和春，王婷，等. 产前诊断遗传性Williams-Beuren综合征一例[J]. 中华医学遗传学杂志，2020, 37(2): 216. DOI: 10.3760/cma.j.issn.1003-9406.2020.02.034.
[30]
罗小金，郭岩芸，黄和明，等. 全基因组拷贝数变异测序检测胎儿生长受限染色体异常的诊断价值[J]. 临床检验杂志，2020, 38(12): 886-890. DOI: 10.13602/j.cnki.jcls.2020.12.02.
[31]
穆卫红，彭园园，陈文琪，等. 多技术平台对1例Williams-Beuren综合征孕妇的遗传学诊断[J]. 中国计划生育学杂志，2020, 28(1): 138-139. DOI: 10.3969/j.issn.1004-8189.2020.01.034.
[32]
Khan J, Al-obaidy KI, Fan R. Williams syndrome with rare ureteric abnormality[J]. Cureus, 2021: 13(8): e17210. DOI: 10.7759/cureus.17210.
[33]
Li C, Zhang J, Li J, et al. BACs-on-beads assay for the prenatal diagnosis of microdeletion and microduplication syndromes[J]. Mol Diagn Ther, 2021, 25(3): 339-349. DOI: 10.1007/s40291-021-00522-w.
[34]
董伟妍，刘妍. Williams综合征并发重度子痫前期1例病例报告[J]. 中国计划生育和妇产科，2021, 13(12): 94-96. DOI: 10.3969/j.issn.1674-4020.2021.12.25.
[35]
纪艺珍，许亚松. CNV-Seq技术在产前诊断胎儿Williams-Beuren综合征中的应用[J]. 国际医药卫生导报，2021, 27(22): 3562-3564. DOI: 10.3760/cma.j.issn.1007-1245.2021.22.034.
[36]
梁斌，王燕，陈灵基，等. 五例7q11.23微缺失/微重复胎儿的产前诊断[J]. 中华医学遗传学杂志，2021, 38(11): 1064-1067. DOI: 10.3760/cma.j.cn511374-20200911-00661.
[37]
周伟宁，黄华洁，卢建，等. 应用CMA技术诊断Williams-Beuren综合征的临床特征分析[J]. 中国优生与遗传杂志，2021, 29(1): 12-16.
[38]
Huang R, Zhou H, Fu F, et al. Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis[J]. Mol Cytogenet, 2022, 15(1): 27. DOI: 10.1186/s13039-022-00604-2.
[39]
Sherer DM, Hsieh V, Granderson F, et al. Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome[J]. J Ultrasound, 2022, 25(3): 645-647. DOI: 10.1007/s40477-021-00638-z.
[40]
陈菲，袁婷婷，陈敏，等. 多囊性肾脏发育不良胎儿的遗传学检测及妊娠结局分析[J]. 实用妇产科杂志，2022, 38(8): 616-620.
[41]
翟洪波，陆红妤，怀磊，等. 孕中期发现胎儿生长受限且产前诊断为Williams-Beuren综合征2例报告并文献复习[J]. 中国实用妇科与产科杂志，2022, 38(11): 1150-1152.
[42]
Cai M, Que Y, Chen M, et al. Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study[J]. J Cell Mol Med, 2023, 27(16): 2354-2361. DOI: 10.1111/jcmm.17821.
[43]
Courdier C, Boudjarane J, Malan V, et al. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)[J]. Prenat Diagn, 2023, 43(6): 734-745. DOI: 10.1002/pd.6340.
[44]
Lv X, Yang X, Li L, et al. Prenatal diagnosis of 7q11.23 microdeletion: two cases report and literature review[J]. Medicine (Baltimore), 2023, 102(43): e34852. DOI: 10.1097/md.0000000000034852.
[45]
Tsagkas N, Katsanevakis E, Karagioti N, et al. Prenatal diagnosis of Williams-Beuren syndrome based on suspected fetal hypotonia in early pregnancy[J]. Cureus, 2023, 15(2): e34841. DOI: 10.7759/cureus.34841.
[46]
Wang Y, Liu C, Hu R, et al. Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review[J]. Front Pediatr, 2023, 11: 1141665. DOI: 10.3389/fped.2023.1141665.
[47]
古秀莲. 超声心动图在胎儿肺动脉及左、右肺动脉分支异常中的诊断价值[J]. 黑龙江医药科学，2023, 46(1): 147-148, 151. DOI: 10.3969/j.issn.1008-0104.2023.01.057.
[48]
罗丽，贺琰. 产前产后超声心动图诊断Williams-Beuren综合征1例[J]. 中国超声医学杂志，2023, 39(1): 41. DOI: 10.3969/j.issn.1002-0101.2023.01.011.
[49]
周伟宁，黄伟伟，罗晓辉，等. 染色体微阵列分析用于7q11.23微缺失和微重复综合征的产前诊断[J]. 中国优生与遗传杂志，2023, 31(11): 2277-2281.
[50]
Liu W, Song J, Zhu Y, et al. Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19, 607 pregnancies[J]. Ann Med, 2024, 56(1): 2402071. DOI: 10.1080/07853890.2024.2402071.
[51]
Luo X, Niu H, Zhou F, et al. Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features？[J]. BMC Pregnancy Childbirth, 2024, 24(1): 727. DOI: 10.1186/s12884-024-06920-2.
[52]
Wang F, Peng H, Lou G, et al. Characterization of the prenatal ultrasound phenotype associated with 7q11.23 microduplication syndrome and Williams-Beuren syndrome[J]. Prenat Diagn, 2024, 44(11): 1398-1411. DOI: 10.1002/pd.6669.
[53]
Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis[J]. Circulation, 1961, 24(6): 1311-1318. DOI: 10.1161/01.cir.24.6.1311.
[54]
Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance[J]. Circulation, 1962, 26(6): 1235-1240. DOI: 10.1161/01.cir.26.6.1235.
[55]
中华医学会围产医学分会胎儿医学学组，中华医学会妇产科学分会产科学组. 胎儿生长受限专家共识(2019版)[J]. 中华围产医学杂志，2019, 22(6): 361-380. DOI: 10.3760/cma.j.issn.1007-9408.2019.06.001.
[56]
de Sousa Lima Strafacci A, Fernandes Camargo J, Bertapelli F, et al. Growth assessment in children with Williams-Beuren syndrome: a systematic review[J]. J Appl Genet, 2020, 61(2): 205-212. DOI: 10.1007/s13353-020-00551-x.
[57]
Li FF, Chen WJ, Yao D, et al. Clinical phenotypes study of 231 children with Williams syndrome in China: a single-center retrospective study[J]. Mol Genet Genomic Med, 2022, 10(12): e2069. DOI: 10.1002/mgg3.2069.
[58]
王丹，黄慧，谢磊，等. 基于中国胎儿超声筛查大数据的4 345例胎儿室间隔缺损分析[J/OL]. 中华医学超声杂志(电子版), 2025, 22(2): 114-119. DOI: 10.3877/cma.j.issn.1672-6448.2025.02.004.
[59]
Wang Y, Li R, Fu F, et al. Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing[J]. Front Genet, 2023, 14: 1260995. DOI: 10.3389/fgene.2023.1260995.
[60]
Collins RT. Cardiovascular disease in Williams syndrome[J]. Curr Opin Pediatr, 2018, 30(5): 609-615. DOI: 10.1097/mop.0000000000000664.
[61]
Lin CJ, Staiculescu MC, Hawes JZ, et al. Heterogeneous cellular contributions to elastic laminae formation in arterial wall development[J]. Circ Res, 2019, 125(11): 1006-1018. DOI: 10.1161/circresaha.119.315348.
[62]
Li S, Hu R, Liu X, et al. Update on the genetics and prenatal ultrasound features of Williams-Beuren syndrome[J]. Adv Ultrasound Diagn Ther, 2024, 8(3): 79-85. DOI: 10.37015/audt.2024.240036.
[63]
Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome[J]. Nat Genet, 1993, 5(1): 11-16. DOI: 10.1038/ng0993-11.
[64]
中华医学会医学遗传学分会临床遗传学组，中国医师协会医学遗传医师分会遗传病产前诊断专业委员会，中华预防医学会出生缺陷预防与控制专业委员会遗传病防控学组. 低深度全基因组测序技术在产前诊断中的应用专家共识[J]. 中华医学遗传学杂志，2019, 36(4): 293-296. DOI: 10.3760/cma.j.issn.1003-9406.2019.04.001.
[65]
Game X, Panicker J, Fowler CJ. Williams-Beuren syndrome[J]. N Engl J Med, 2010, 362(15): 1449-1450. DOI: 10.1056/NEJMc1001965.
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