The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication

Dang, Yinghui; Wan, Shanning; Zheng, Yijing; Song, Tingting; Li, Chunyan; Yu, Li; Zhang, Jianfang

doi:10.1080/15513815.2019.1651802

Cited by 10 publications

(26 citation statements)

References 20 publications

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“…Present series on the largest number of unrelated fetuses with CNVs in 7q11.23 confirms the diagnosis features already reported (IUGR, cardiac defects, and polyhydramnios) 4,5,11 but underlines distinctive and so far unreported presentation. Indeed, some US features are more prevalent in our series compared to the literature, namely IUGR (70.0% vs. 53.3%) and polyhydramnios (17.5% vs. 3.3%) 4,5,11 . On the other hand, cardiovascular defects are less frequent in our series than in the literature (30.0% vs. 56.7%) 4,5,11 .…”

Section: Discussionsupporting

confidence: 85%

“…It is difficult to obtain universal criteria for IUGR as its definition can be different among countries, but we have retained EFW at 10th percentile as a threshold, following French guidelines and experiences 21–23 . We observed unusual features as protruding tongue (15.0%) and buried penis (5.0%) 4,5,11 . Protruding tongue could be an emerging WBS‐specific US sign thanks to the improved quality of ultrasound evaluation; indeed, all the cases were recently diagnosed from 2017 to 2020.…”

Section: Discussionmentioning

confidence: 91%

“…The duplication of the WBSCR is known to cause the 7q11.23 duplication syndrome associated with developmental delay, hypotonia, seizures, anxiety, craniofacial features, and aortic dilation 20 . It occurs less frequently than WBS, and its lack of intrauterine phenotype explains that only three cases of 7q11.23 duplication with prenatal signs have been reported 5,8 …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

et al. 2023

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Objective:We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes. Methods:We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France.Results: 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40).Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated. Conclusion:This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

et al. 2023

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“…But limited information has been collected on the intrauterine phenotype features of WBS. Until now, only about 29 prenatal cases of WBS have been reported (2)(3)(4)(5)(6)(7)(8)(9)(10)(11). The prenatal diagnosis of WBS is difficult due to the atypical features of prenatal ultrasound.…”

Section: Introductionmentioning

confidence: 99%

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review

Wang

Liu

et al. 2023

Front. Pediatr.

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ObjectiveTo share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease.MethodsThe study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups.ResultsA total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo.ConclusionPrenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.

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“…Molecular techniques, such as quantitative fluorescence PCR (QF-PCR) and the multiplex ligation-dependent probe amplification (MLPA), are regularly combined with karyotyping for rapid aneuploidy testing for the detection of common aneuploidies during invasive prenatal diagnosis (1,2). Recently, a bead-based multiplex technique, known as Prenatal BACs-on-Beads™ (PNBoBs™), has been widely used as an alternative method for the detection of common aneuploidies, as well as specific microdeletion syndromes, during prenatal diagnosis (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Among these methods, the MLPA technique detects the sequence dosage differences in a semi-quantitative manner (21), whilst QF-PCR combines qualitative and semi-quantitative approaches for the interpretation of peak profiles of target chromosomes (22).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of interpretation methods to improve accuracy of the prenatal BACs‑on‑Beads™ assay in prenatal diagnosis

Jiang

Zhang

et al. 2020

Exp Ther Med

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Prenatal BACs-on-Beads™ (PNBoBs™) technology has been approved for use in routine clinical prenatal diagnosis in numerous countries. However, the influence of data interpretation on the accuracy of the results remains to be evaluated. The present study aimed to determine the accuracy of existing data interpretation approaches and develop an optimization method to improve the performance of the PNBoBs™ assay in prenatal diagnosis. A total of 2,289 prenatal cases with known karyotypes and raw ratio data from PNBoBs™ assays were recruited for the present study. Positive results, according to the data interpretation methods used for the PNBoBs™ test, were validated against current gold-standard approaches. Statistical analyses were then performed to evaluate the accuracy of existing methods in data interpretation to provide a basis for the optimization of a follow-up approach. Among the existing methods, the 'trimmed standard deviation threshold' approach had the highest sensitivity and false-positive rates, with 98.1 and 4.2%, respectively. The 'n-1 or greater probes' rule had the highest specificity (99.7%) and the second-highest false-negative rate (11.5%). The method optimized in the present study provided a reasonable balance between sensitivity (98.1%) and specificity (99.6%) with regards to the interpretation of the data obtained from the PNBoBs™ assay. The results indicated that the present optimization method outperforms existing approaches in data interpretation for the PNBoBs™ assay, and as a result, may reduce unnecessary verification turnaround time and cost in prenatal diagnosis.

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The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication

Cited by 10 publications

References 20 publications

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review

Evaluation of interpretation methods to improve accuracy of the prenatal BACs‑on‑Beads™ assay in prenatal diagnosis

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