Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Yuan, Meizhen; Deng, Linbei; Yang, Yazhou; Sun, Luming

doi:10.1111/ahg.12360

Cited by 16 publications

(27 citation statements)

References 45 publications

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“…As previously described, congenital cardiovascular defects are the most clinically significant in 80% of patients with Williams-Beuren syndrome, which is caused by haplo insufficiency in the elastin (ELN) [ 23 , 24 ]. The ultrasound feature of case 10 was CoA and FGR, which was also reported in a study by Yuan et al [ 25 ]. In their study, the researchers found that the most common ultrasound manifestations of William-Beuren syndrome in prenatal cases were FGR and congenital cardiovascular abnormalities mainly involving supravalvular aortic stenosis, VSD, or aortic coarctation.…”

Section: Discussionsupporting

confidence: 80%

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Liu

et al. 2020

Mol Diagn Ther

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Background Aortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results. Objective This study aimed to evaluate the yield of chromosomal microarray analysis (CMA) in fetuses with different patterns of AAA and normal karyotype. Methods Data from 158 pregnancies referred for prenatal CMA testing due to fetal AAA were obtained between April 2016 and April 2019. Fetuses with isolated AAA, AAA accompanied by soft ultrasound markers, and AAA with other ultrasound malformations were classified into groups A, B, and C, respectively. Cases with detectable karyotype aberrations were excluded from the study. Results Twenty cases (12.7%) of submicroscopic anomalies were detected in 158 cases with normal karyotype, comprising 16 cases (10.1%) of clinically significant variants, two cases (1.3%) of variants of unknown significance, and two variants (1.3%) that were likely benign. Microdeletion of 22q11.2 accounted for 25% (4/16) of the clinically significant variants. The overall incremental yields by CMA in group A, group B, and group C were 1.8%, 2.3%, and 24.1%, respectively. Except for double aortic arch, the incremental yield of clinical significant findings for each type of AAA in group C was much higher than that in group A and group B. In group A, a clinically significant variant was only detected in one fetus with right aortic arch (RAA) (1.8%, 1/57). Conclusions In addition to 22q11.2 microdeletion, many other clinically significant submicroscopic variants are present in fetuses with AAA, especially in fetuses with other ultrasound malformations. Although CMA is always recommended in the presence of any malformation in many countries, our results suggest insufficient evidence to recommend CMA in fetuses with isolated AAA, except for isolated RAA.

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Section: Discussionsupporting

confidence: 80%

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Liu

et al. 2020

Mol Diagn Ther

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“…In previous literature reports, the most common ultrasound features were: IUGR (82.35%), SVAS (40%), VSD (30%), AC (20%), and PAS (20%) [ 10 ]. However, in our study, the incidence of IUGR (25%) and SVAS (12.5%) were lower than in previous studies.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Huang

Zhou

et al. 2022

Mol Cytogenet

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Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome. Methods In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes. Results In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07 Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up. Conclusions This study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports.

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“…Trisomy 13, 17 and 18 [11][12][13] Cri-du-chat syndrome (5p15.2 or 5p15.3 deletion) [14][15][16] Williams-Beuren syndrome (7q11.23 deletion) [17] Monogenic syndromes Cornelia de Lange syndrome (NIPBL mutation) [10,[25][26][27] Smith-Lemli-Opitz syndrome (DHCR7 mutation)…”

Section: Fetal Chromosomal Aberrationsmentioning

confidence: 99%

“…Similarly, FGR is the most common symptom of trisomy 17; however, the presence of this aberration is very rare [ 13 ]. The other genetic disorders with the same prenatal manifestation as FGR are Cri-du-chat syndrome (CdCS), resulting from a deletion of the short ( p ) arm of chromosome 5 [ 14 , 15 , 16 ], and Williams–Beuren syndrome, caused by a heterozygous deletion in the chromosome 7q11.23 region [ 17 ].…”

Section: Fetal Fgr Causesmentioning

confidence: 99%

Genetic Background of Fetal Growth Restriction

Nowakowska¹,

Pankiewicz²,

Nowacka³

et al. 2021

IJMS

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Fetal growth restriction (FGR) is one of the most formidable challenges in present-day antenatal care. Pathological fetal growth is a well-known factor of not only in utero demise in the third trimester, but also postnatal morbidity and unfavorable developmental outcomes, including long-term sequalae such as metabolic diseases, diabetic mellitus or hypertension. In this review, the authors present the current state of knowledge about the genetic disturbances responsible for FGR diagnosis, divided into fetal, placental and maternal causes (including preeclampsia), as well as their impact on prenatal diagnostics, with particular attention on chromosomal microarray (CMA) and noninvasive prenatal testing technique (NIPT).

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Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Cited by 16 publications

References 45 publications

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

Genetic Background of Fetal Growth Restriction

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