New application methods for chromosomal abnormalities screening test using digital PCR

Lee, Seung Yong; Shim, Sung Han; Youn, Jong-Pil; Kim, Seung Jun; Kim, Ji Hoon; Jung, Sung Ae; Choi, Hyo Jung; Oh, Moon Ju; Lee, Kyoung-Ryul; Hyun, Dong Choon; Hwang, Seung Yong

doi:10.1007/s13206-015-9410-1

Cited by 4 publications

(8 citation statements)

References 27 publications

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“…The majority of the reviewed studies were from China ( n = 5), with additional contributions from South Korea ( n = 2), the Czech Republic ( n = 1), and France ( n = 1). Except for 2 studies with a retrospective design [ 21 , 22 ], the other 7 studies were prospective. Collectively, a total of 1611 prenatal samples from either maternal plasma or whole blood were studied.…”

Section: Resultsmentioning

confidence: 99%

“…Five studies compared the results of dPCR with findings of the karyotyping analysis on amniocentesis or Chorionic Villous Sampling (CVS) samples [ 22 – 26 ], and 1 compared it with karyotyping analysis or data from clinical follow-up [ 27 ]. Whereas 3 studies only compared dPCR results with NGS findings [ 21 , 28 , 29 ]. All of the included studies examined the utility of dPCR in trisomy 21 screening.…”

Section: Resultsmentioning

confidence: 99%

“…Compared to NGS, dPCR successfully identified 9 out of 10 trisomy 21 cases with no reported FPs. However, the lone FN result had a notably lower cell-free fetal fraction ratio (0.79%) compared to other samples, which exceeded 2.5% [ 21 ].…”

Section: Resultsmentioning

confidence: 99%

“…Two studies were at high risk of bias [ 21 , 25 ] and 4 were at unclear risk of bias [ 22 , 24 , 26 , 28 ] for patient selection, as they did not enroll a consecutive or random sample of patients. The remaining 3 studies were considered at low risk of bias in patient selection [ 23 , 27 , 29 ].…”

Section: Resultsmentioning

confidence: 99%

“…One study was characterized by an unclear risk of bias in the index test domain due to the absence of information regarding the blinding of assessors to the reference test results [ 22 ]. In contrast, the remaining 8 studies demonstrated a low risk of bias concerning the index test [ 21 , 23 – 29 ].…”

Section: Resultsmentioning

confidence: 99%

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Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis

Parsaei,

Dashtkoohi,

Salmani

et al. 2024

BMC Pregnancy Childbirth

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Background Digital Polymerase Chain Reaction (dPCR) presents a promising approach for quantifying DNA and analyzing copy number variants, particularly in non-invasive prenatal testing. This method offers a streamlined and time-efficient procedure in contrast to the widely used next-generation sequencing for non-invasive prenatal testing. Studies have reported encouraging results for dPCR in detecting fetal autosomal aneuploidies. Consequently, this systematic review aimed to evaluate the effectiveness of dPCR in screening for trisomy 21, 18, and 13. Methods A systematic search was conducted in PubMed, Web of Sciences, and Embase for relevant articles published up to December 30, 2023. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) was utilized for the quality assessment of the included articles. Furthermore, a bivariate random-effect regression model was used to conduct a meta-analysis on the utility of dPCR for trisomy 21 screening. Results A total of 9 articles were included in this review, with all of them assessing the utility of dPCR in trisomy 21 screening, and 2 and 1 studies conducting additional analysis on the screening abilities of dPCR for trisomy 18 and 13, respectively. A bivariate random-effects model calculated pooled sensitivity and specificity with a 95% confidence interval (CI). Meta-analysis of 6 studies comparing trisomy-21 screening with karyotyping demonstrated dPCR's pooled sensitivity of 98% [95% CI: 94 -100] and specificity of 99% [95% CI: 99 -100]. While conducting a meta-analysis for trisomy 13 and 18 proved impractical, reported values for sensitivity and specificity were favorable. Conclusions These findings suggest that dPCR holds promise as an effective tool for non-invasive prenatal testing, presenting a less time-consuming and intricate alternative to next-generation sequencing. However, further research is necessary to evaluate dPCR's applicability in clinical settings and to delineate its specific advantages over next-generation sequencing. This study contributes valuable insights into the potential of dPCR for enhancing prenatal screening methodologies. Trial registration The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO) on 7/3/2024, with a registration code of CRD42024517523.

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Section: Resultsmentioning

confidence: 99%