Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

Zhuang, Jianlong; Chen, Chunnuan; Jiang, Yuying; Luo, Qi; Zeng, Shuhong; Lv, Chunling; Wang, Yuanbai; Fu, Wanyu

doi:10.1186/s12884-021-03589-9

Cited by 5 publications

(5 citation statements)

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“…Several studies demonstrated that there were no false-positive or false-negative results detected by BoBs assay compared with karyotyping analysis for common aneuploidies [ 12 , 13 , 30 ]. A normal BoBs result can greatly reduce psychological stress in couples.…”

Section: Discussionmentioning

confidence: 99%

“…Similar to our results, Li et al reported that the additional diagnostic rate of those syndromes was 0.2% [ 13 ]. Tao et al identified that the chromosomal microduplications/microdeletions rate of BoBs was 1.9% [ 12 ], and another study showed that the rate was 1.6% [ 30 ]. However, BoBs missed 11 (44.0%) mosaic cases, which might have been because of technical limitations on the ability to identify mosaics in different targeted regions [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

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Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

Kakongoma

et al. 2023

BMC Pregnancy Childbirth

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Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis during the second trimester based on our laboratory experience. Methods A total of 10,580 pregnant women with a variety of indications for amniocentesis were enrolled in this retrospective study between January 2015 and December 2020, of whom amniotic fluid samples were analysed in 10,320 women. The main technical indicators of participants in the three different technologies were summarized, and cases of chromosome abnormalities were further evaluated. Results The overall abnormality detection rate of karyotyping among all the amniotic fluid samples was 15.4%, and trisomy 21 was the most common abnormality (20.9%). The total abnormality detection rate of the BoBs assay was 5.6%, and the diagnosis rate of microdeletion/microduplication syndromes that were not identified by karyotyping was 0.2%. The detection results of the BoBs assay were 100.0% concordant with karyotyping analysis in common aneuploidies. Seventy (87.5%) cases of structural abnormalities were missed by BoBs assay. The total abnormality detection rate of the SNP array was 21.6%. The detection results of common aneuploidies were exactly the same between SNP array and karyotyping. Overall, 60.1% of structural abnormalities were missed by SNP array. The further detection rate of pathogenic significant copy number variations (CNVs) by SNP was 1.4%. Conclusions Karyotyping analysis combined with BoBs assay or SNP array for prenatal diagnosis could provide quick and accurate results. Combined use of the technologies, especially with SNP array, improved the diagnostic yield and interpretation of the results, which contributes to genetic counselling. BoBs assay or SNP array could be a useful supplement to karyotyping.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

Kakongoma

et al. 2023

BMC Pregnancy Childbirth

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“…On the other hand, prenatal diagnostic tests performed after invasive surgery have a high success rate, enabling pregnant women to make better decisions about pregnancy management based on the results of subsequent invasive prenatal diagnosis. Literatures have shown that although the success rate of conventional karyotype analysis in abortion or stillbirth samples was only about 70-80% (Sahlin et al, 2014;Pauta et al, 2018;Martinez-Portilla et al, 2019), the overall success rate in testing prenatal samples (amniotic fluid, umbilical cord blood, or villus tissue) can be as high as 98-99% (Ocak et al, 2014;Tao et al, 2019;Wang et al, 2020;Zhuang et al, 2021) and the overall success rate of high-resolution molecular genetics technology (CMA, CNV-seq, QF-PCR, and BACs-on-Beads assay, etc.) was about 95-100% (Sahlin et al, 2014;Hu et al, 2017;Pauta et al, 2018Pauta et al, , 2020Wang et al, 2018Wang et al, , 2020Martinez-Portilla et al, 2019;Tao et al, 2019;Zhuang et al, 2021), and almost not affected by sample types.…”

Section: Discussionmentioning

confidence: 99%

Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

Liu

et al. 2021

Front. Genet.

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BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

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“…The subjects' DNA was extracted by SNP array and WES analysis using a QIAamp DNA Blood Kit (Qiagen, Hilden, Germany) following the instructions from the kit's handbook (www.qiagen.com). Analysis of the SNP array was carried out using the Affymetrix CytoScan 750K Chip Kit following the standard procedure reported previously (14). Copy number variants were interpreted with reference to DGV, OMIM, DECIPHER, and PubMed and other databases.…”

Section: Chromosomal Microarray Analysismentioning

confidence: 99%

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Zhuang¹,

Chen

Chen³

et al. 2022

Front. Pediatr.

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BackgroundOsteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and the genotype–phenotype correlation.MethodsKaryotyping, chromosomal microarray analysis, and whole-exome sequencing (WES) were performed to determine the genetic etiology of OI in the enrolled family. Western blotting analysis was carried out using the fetal skin tissue for type I collagen production analysis.ResultsAt the first pregnancy, a c.1777G>A mutation in the COL1A1 gene was detected in the fetus who exhibited skeletal dysplasia. In this second pregnancy, severe fetal skeletal dysplasia was also presented without significant chromosomal abnormality detected by karyotype and chromosomal microarray analysis in the fetus. Further WES results demonstrated a de novo missense mutation of c.1777G>A (p.G593S) in the fetus, which was classified as a pathogenic variant according to the ACMG guidelines. The recurrent mutation in the two fetuses hinted at the possible existence of gonadal mosaicism in the parents, while no mutation in the COL1A1 gene was identified in the DNA from the father's sperm. In addition, Western blot results demonstrated no reduced type I procollagen production in the affected fetus compared with the age-matched controls.ConclusionsTo the best of our knowledge, this is the first study that identified a rare variant of c.1777G>A in the COL1A1 gene that led to recurrent OI in the Chinese population. Additionally, we believe that this rare variant of c.1777G>A in the COL1A1 gene will lead to OI type II. The results of the present study further verify the application value of WES in identifying fetuses with ultrasound anomalies.

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Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

Cited by 5 publications

References 24 publications

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

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