Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage

Mellali, Sarah; Haoud, Khadidja; Gouas, Laëtitia; Khaled, Meghit Boumédiène; Vago, Philippe; Moulessehoul, Soraya

doi:10.7196/samjnew.8121

Cited by 4 publications

(4 citation statements)

References 15 publications

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“…The BoBs™ assay was previously used to rapidly diagnose abnormalities of chromosomes 13, 18, 21, X, and Y, as well as another nine significant microdeletions linked to specific syndromes, using fluff, amniotic fluid, and umbilical cord blood (Grati et al, ; Mellali et al, ). In this study, the success rate of the BoBs™ assay for identifying chromosomal aneuploidies was higher than that of karyotyping (100% vs. 94.88) as it was able to detect an additional seven cases that were missed by karyotyping.…”

Section: Discussionmentioning

confidence: 99%

Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

Huang

Zhang

Wang

et al. 2018

Molecular Reproduction Devel

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Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-Beads (BoBs™) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China-including three chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples-were assessed for chromosomal abnormalities by karyotyping and by the BoBs™ assay. A diagnosis was successfully achieved by karyotyping for 98.8% (618/625) and by the BoBs™ assay for 100% (625/625) of the samples. Both assays were concordant for trisomy 21 (2.72%, 17/625), trisomy 18 (1.12%, 7/625), trisomy 13 (0.48%, 3/625), and sex chromosome aneuploidies (0.8%, 5/625). Unlike karyotyping, the BoBs™ assay detected 22q11.2 microdeletion (0.64%, 4/625), 22q11.2 microduplication (0.16%, 1/625), Smith-Magenis syndrome microdeletion (0.16%, 1/625), and Miller-Dieker syndrome microdeletion (0.16%, 1/625). Thus, the BoBs™ assay is a reliable and rapid test for detecting common aneuploidies and microdeletions for prenatal diagnosis, and could be used instead of karyotyping for detection of common aneuploidies as well as to provide additional information regarding microdeletions.

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Section: Discussionmentioning

confidence: 99%

Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

Huang

Zhang

Wang

et al. 2018

Molecular Reproduction Devel

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“…The Prenatal TM BoBs can also identify common microdeletion syndromes, unlike FISH or QF-PCR, both of which can be easily overlooked despite excellent prenatal sonography. 15,16 Since The general adoption of the CMA may be hindered by the relatively costly and sophisticated technical requirements. 13 While BoBs may not have the breadth and scope in the prenatal setting to replace CMA, mainly when a fetal anomaly has been detected, it is a suitable alternative for FISH or QF-PCR because BoBs are comparable in terms of cost, turnaround time, and throughout, and accuracy, if not superior.…”

Section: Resultsmentioning

confidence: 99%

Rapid Molecular Karyotyping for Products of Conception by BACs-on-beads Technology

Onsod¹,

Jaranasaksakul²,

Areesirisuk³

et al. 2022

International Journal of Infertility &Amp; Fetal Medicine

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extracted from placental villi (n = 169), umbilical cord (n = 4), intestine (n = 1), CVS (n = 16), yolk sac (n = 3), and fetal somatic tissue (n = 72). These specimens were collected between January 2013 to December 2020. Approval for this study was obtained from the Committee on Human Rights Related to Research Involving Human Subjects based on Helsinki's Declaration (COA. MURA2014/686). DNA IsolationAll samples were collected in a saline solution and extracted for purified DNA. According to the manufacturer's protocol extraction reagents for tissues, DNA was extracted using the QIAamp DNA Micro Kit (QIAGEN, Hilden, Germany). The extracted DNA's concentration and purity were measured by Nanodrop 2000 Spectrophotometer instrument before labeling DNA and after the labeled DNA purification. BACs-on-beads TechnologyKaryoLite™ BoBs and Prenatal™ BoBs were performed according to the manufacturer's instructions (PerkinElmer Life Sciences Wallac, Turku, Finland) Luminex 200 platform to identify fluorescence intensity. 9 The 240 ng of genomic DNA was amplified with IntroductIonAt least 10% of pregnancy loss occurs in the first trimester due to fetal chromosomal abnormalities. [1][2][3][4] The use of products of conception (POC) for genetic testing can identify the cause of miscarriage. Conventional karyotyping is the gold standard required for the tissue culture process. This process requires time to culture the material and has a high failure rate of approximately 5-25%. 5 Bacterial artificial chromosomes (BACs)-on-beads (BoBs) technology is a rapid molecular genetic method to detect DNA copy number gains and losses. It does not require cell culture and may increase diagnostic yield to detect anomalies in early pregnancy losses. Two types of BoBs assays are available. The Prenatal™ BoBs have been developed to detect aneuploidies of chromosomes 13, 18, 21, X, and Y and detect gains and losses of DNA in critical regions of chromosomes associated with nine microdeletion syndromes (DiGeorge-1, DiGeorge-2, Williams-Beuren, Prader-Willi, Angelman, Smith-Magenis, Wolf-Hirschhorn, Cri du Chat, Langer-Giedion, and Miller-Dieker syndromes). The KaryoLite™ BoBs have been developed to detect aneuploidies and regions of specific chromosomal p and q arms of all 24 chromosomes in a single assay. 4,[6][7][8] There are 3-4 beads per chromosome. The labeled beads are detected using a Luminex platform identifying fluorescence intensity between a sample and references to identify DNA copy number changes across the regions. Due to the high failure rate of POC samples culture, we aimed to investigate the use of the BoBs (Prenatal™ and KaryoLite™) technique to detect chromosomal aneuploidies and microdeletions in POC. In addition, the concordance and efficacy of both methods were evaluated. MaterIals a n d Methods Products of ConceptionThe 265 DNA samples routinely archived at −80°C were extracted from fresh products of conception, which included samples

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“…Therefore, based on the association analysis (Odds Ratio, CI 95%), we revealed that malformations [8] Published studies prove that there is a considerable increase in the incidence of malformations cases with increasing age [9] or because of genetic problems, [10] even though the majority of works studied the association of only one or a few risk factors.…”

Section: Discussionmentioning

confidence: 99%

Prevention of congenital malformations for pregnant women: A predictive model based on a study in eastern Algeria’s population

2021

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The World Health Organization (WHO) defines congenital malformation as any gross abnormality present at birth even if it is not immediately recognized. Here, we aimed to identify the factors predisposing to congenital malformations in pregnant women in Eastern Algeria and the effect of the combination of several factors. 786 pregnant women were interviewed. Throughout our study, we sought to find answers, discuss the association between malformation exposure, identify the risk factors, and predict the occurrence of malformations using statistical analysis techniques. We developed a predictive model and we found that malformations were significantly higher for pregnant women aged over 34 (10.93; 95%CI: 2.10-201.71, p=0.023), with a BMI over 25 (2.38; 0.91-7.04, p=0.091), hypertension (2.18; 1.04-4.57, p=0.038), anemia (2.08; 0.98-4.35, p=0.053) and infections (2.32; 1.18-4.58; p=0.015). Protecting factors against malformations includes diet moderate in meat (1.97; 0.73-4.98, p=0.163) and rich in eggs, soft drinks, and fruit-vegetables (2.69; 0.76-8.63, p=0.106), (1.84; 0.74-4.43, p=0.177), (3.08; 0.56-13.28, p=0.154); respectively. Knowing risk factors helps to establish predictive models and strategies to prevent malformations and highlights the link between malformations and multiple risk factors for the sake of protecting babies’ lives.

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Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage

Cited by 4 publications

References 15 publications

Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

Application of the BACs‐on‐Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions

Rapid Molecular Karyotyping for Products of Conception by BACs-on-beads Technology

Prevention of congenital malformations for pregnant women: A predictive model based on a study in eastern Algeria’s population

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