Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Meta-Analysis
. 2024 Jul 11;24(1):472.
doi: 10.1186/s12884-024-06655-0.

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

Mohammadamin Parsaei  1   2 , Mohadese Dashtkoohi  3 , Tayyeb Ali Salmani  4 , Mohammad Sadeq Najafi  5 , Mohammad Haddadi  3 , Marjan Ghaemi  3 , Sedigheh Hantoushzadeh  6
Affiliations
Meta-Analysis

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

Mohammadamin Parsaei et al. BMC Pregnancy Childbirth. .

Abstract

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.

Keywords: Down syndrome; Edwards syndrome; Noninvasive prenatal testing; Patau syndrome; Polymerase chain reaction.

PubMed Disclaimer

Conflict of interest statement

The authors of this study have no financial or non-financial conflicts of interest to disclose.

Figures

Fig. 1
Fig. 1
The flow chart of the study screening process, based on the PRISMA 2020 statement
Fig. 2
Fig. 2
Proportion of studies with high, low, and unclear (a) risk of bias and (b) concerns regarding the applicability based on the QUADAS-2 statement
Fig. 3
Fig. 3
Forest plots for the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and summary receiver operating characteristics for non-invasive prenatal screening of trisomy-21 using the dPCR
See this image and copyright information in PMC

References

    1. Curnow KJ, Sanderson RK, Beruti S. Noninvasive detection of fetal aneuploidy using next generation sequencing. Methods Mol Biol. 2019;1885:325–345. doi: 10.1007/978-1-4939-8889-1_22. - DOI - PubMed
    1. Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589–1597. doi: 10.1056/NEJMoa1407349. - DOI - PubMed
    1. Rafi I, Hill M, Hayward J, Chitty LS. Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening. Br J Gen Pract. 2017;67(660):298–299. doi: 10.3399/bjgp17X691625. - DOI - PMC - PubMed
    1. Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. StatPearls. Treasure Island (FL): StatPearls Publishing. Copyright © 2023, StatPearls Publishing LLC.; 2023. - PubMed
    1. Liao H, Liu S, Wang H. Performance of non-invasive prenatal screening for fetal aneuploidy in twin pregnancies: a meta-analysis. Prenat Diagn. 2017;37(9):874–882. doi: 10.1002/pd.5118. - DOI - PubMed

LinkOut - more resources