BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes

Li, Chunyan; Zhang, Jianfang; Li, Jia; Qiao, Guyuan; Yu, Zhan; Xü, Ying; Hong, Yang

doi:10.1007/s40291-021-00522-w

Cited by 6 publications

(3 citation statements)

References 45 publications

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“…Whereas BoBs ™ and CMA show similar e cacy in detecting aneuploidy number abnormalities [10,11], they differ substantially in their ability to detect CNVs. In this study, we examined 2,732 pregnant women who underwent the BoBs ™ test, revealing only four cases of PCNVs.…”

Section: Discussionmentioning

confidence: 98%

Prenatal diagnosis and pregnancy outcomes in high-risk and borderline high-risk pregnant women for Down syndrome

Tian,

Huang,

et al. 2024

Preprint

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Background: Non-invasive prenatal testing (NIPT) and serological triple screening were used to analyse the clinical and pregnancy outcomes of women classified as borderline/high-risk for Down syndrome (DS). Results: A retrospective analysis was conducted on 3,245 pregnant women who underwent karyotyping combined with BACs-on-BeadsTM (BoBsTM) and karyotyping combined with chromosomal microarray analysis (CMA). The overall prevalence of fetuses at high risk of DS was 7.55% (245/3245), of which the incidence of DS was 84.49% (207/245), sex chromosome aneuploidy (SCA) was 5.31% (13/245), trisomy 18 was 4.49% (11/245), pathogenic copy number variations (PCNVs) was 4.08% (10/245), and variant of uncertain significance (VOUS) was 1.22% (3/245). Seven cases of mosaicism undetected by BoBsTM and one case of mosaicism undetected by CMA were detected by karyotyping. One additional complex rearrangement was detected by karyotyping. The CNV detection rate of CMA was higher than that of BoBsTM [1.75% (9/513) vs. 0.15% (4/2732)]. The positive predictive values of NIPT (70.00%) were higher than those of serological triple screening (0.95%), which is useful in DS, trisomy 18, SCA, and CNV. Of the pregnancies, 96.62% (200/207) were DS; 100% (11/11), trisomy 18; 61.54% (8/13), SCA; 70.00% (7/10), PCNVs; and 0% (0/3), VOUS terminated pregnancies. Conclusions: Serological triple screening is useful for DS and SCA, trisomy 18, and CNV. Karyotyping combined with CMA detected more mosaicism and CNV than karyotyping combined with BoBsTM. The labour induction rate of DS and trisomy 18 was higher than that of SCA, and PCNVs were higher than VOUS.

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Section: Discussionmentioning

confidence: 98%

Prenatal diagnosis and pregnancy outcomes in high-risk and borderline high-risk pregnant women for Down syndrome

Tian,

Huang,

et al. 2024

Preprint

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“…Xp22.31 deletion (included STS gene) is associated with recessive X‐linked ichthyosis characterized by widespread, dark brown, polygonal scales and generalized dryness. Xp22.31 microdeletion syndrome was reported with fetal cerebral ventriculomegaly, and is usually regarded as an incidental finding in prenatal diagnosis 20 …”

Section: Discussionmentioning

confidence: 99%

Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Huang

Zhang

Jing

et al. 2023

Intl J Gynecology & Obste

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ObjectiveTo systematically evaluate the association of prenatal thoracic ultrasound abnormalities with copy number variants (CNVs).MethodsChromosomal microarray (CMA) data and clinical characteristics from fetuses with thoracic ultrasound abnormalities were retrieved and analyzed.ResultsThoracic ultrasound findings were mainly isolated except for fetal pleural effusion (FPE) and pulmonary hypoplasia. The diagnostic yield of CMA for thoracic anomaly was 9.66%, and FPE (17/68, 25%), pulmonary hypoplasia (1/8, 12.5%), and congenital diaphragmatic hernia (CDH) (6/79, 7.59%) indicated relatively high pathogenic/likely pathogenic (P/LP) CNV findings. The detection rate for P/LP CNVs was obviously increased in non‐isolated thoracic anomalies (27.91% vs. 1.96%, P < 0.0001), non‐isolated FPE (37.78% vs. 0%, P = 0.0007) and non‐isolated congenital pulmonary airway malformation (CPAM) (27.27% vs. 0%, P < 0.0001), and significantly different among thoracic anomalies. Additionally, the rate of termination of pregnancy in cases with non‐isolated thoracic anomalies (58.49% vs. 12.34%, P < 0.0001) and P/LP CNVs (85.71% vs. 24.15%, P < 0.0001) was obviously increased.ConclusionThe present study expanded phenotype spectrums for particular recurrent CNVs. FPE, CDH, and pulmonary hypoplasia indicated relatively high P/LP CNV findings among common thoracic ultrasound abnormalities, CPAM associated with other ultrasound abnormalities increased the incidence of diagnostic CNVs, while bronchopulmonary sequestration might not be associated with positive CNVs. The present data recommended CMA application for cases with prenatal thoracic ultrasound abnormalities, especially non‐isolated FPE, non‐isolated CPAM, CDH, and pulmonary hypoplasia.

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“…To better characterize the prenatal genotype-phenotype correlations of Williams-Beuren syndrome, we summarized clinic features of published cases involving pure prenatally detected 7q11.23 deletion (Table 1). [17][18][19][20][21][22][23] All 7q11.23 microdeletions varied in size, ranging from 1.06 Mb to 1.98 Mb. Among these cases, 24 cases (No.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review

Lv,

Yang,

et al. 2023

Medicine

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Rationale: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Patient concerns: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of abnormal ultrasound findings. Case 1 presented subependymal cyst and case 2 presented intrauterine growth restriction, persistent left superior vena cava and pericardial effusion in clinical ultrasound examination. Diagnoses: Cytogenetic examination showed that the 2 fetuses presented normal karyotypic results. CMA detected 1.536 Mb (case 1) and 1.409 Mb (case 2) microdeletions in the region of 7q11.23 separately. Interventions: Both couples opted for the termination of pregnancies based upon genetic counseling. Outcomes: The deleted region in both fetuses overlapped with Williams-Beuren syndrome. To our knowledge, case 1 was the first reported fetus of Williams-Beuren syndrome with subependymal cyst. Lessons: The genotype-phenotype of Williams-Beuren syndrome is complicated due to the phenotypic diversity. For prenatal cases, clinicians should consider the combination of ultrasonography, traditional cytogenetic, and molecular diagnosis technology when genetic counseling.

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BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes

Cited by 6 publications

References 45 publications

Prenatal diagnosis and pregnancy outcomes in high-risk and borderline high-risk pregnant women for Down syndrome

Prenatal diagnosis and pregnancy outcomes in high-risk and borderline high-risk pregnant women for Down syndrome

Association of prenatal thoracic ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review

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