Recent trends in prenatal genetic screening and testing

Pös, Ondrej; Budiš, Jaroslav; Szemes, Tomáš

doi:10.12688/f1000research.16837.1

Cited by 52 publications

(56 citation statements)

References 75 publications

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“…The latter involves the formation of microvesicles (exosomes) or protein-cf-NA complexes, whereby cf-NAs show high stability in body fluids making them suitable biomarker candidates detectable by methods such as qPCR and sequencing. Cf-NAs are well-established biomarkers in prenatal diagnosis for the screening of genetic disorders in the fetus [ 5 , 6 , 7 ]. Accumulating evidence suggests that cf-NAs (cf-DNA and cell-free non-coding RNAs) might be promising biomarkers in the diagnosis and prognosis of cancer, cardiovascular or neurological diseases and diabetes.…”

Section: Introductionmentioning

confidence: 99%

Circulating Cell-Free Nucleic Acids: Main Characteristics and Clinical Application

Szilágyi

Pös

Márton

et al. 2020

IJMS

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133

108

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Liquid biopsy recently became a very promising diagnostic method that has several advantages over conventional invasive methods. Liquid biopsy may serve as a source of several important biomarkers including cell-free nucleic acids (cf-NAs). Cf-DNA is widely used in prenatal testing in order to characterize fetal genetic disorders. Analysis of cf-DNA may provide information about the mutation profile of tumor cells, while cell-free non-coding RNAs are promising biomarker candidates in the diagnosis and prognosis of cancer. Many of these markers have the potential to help clinicians in therapy selection and in the follow-up of patients. Thus, cf-NA-based diagnostics represent a new path in personalized medicine. Although several reviews are available in the field, most of them focus on a limited number of cf-NA types. In this review, we give an overview about all known cf-NAs including cf-DNA, cf-mtDNA and cell-free non-coding RNA (miRNA, lncRNA, circRNA, piRNA, YRNA, and vtRNA) by discussing their biogenesis, biological function and potential as biomarker candidates in liquid biopsy. We also outline possible future directions in the field.

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Section: Introductionmentioning

confidence: 99%

Circulating Cell-Free Nucleic Acids: Main Characteristics and Clinical Application

Szilágyi

Pös

Márton

et al. 2020

IJMS

Self Cite

133

108

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“…In our previous study, we described non-invasive prenatal test (NIPT) based on analysis of plasma DNA from pregnant women [11,12,13]. This test uses low-coverage massively parallel sequencing of whole-genome for detection of CNV aberrations [14].…”

Section: Introductionmentioning

confidence: 99%

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

Pös

Budiš

Kubiritova

et al. 2019

IJMS

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Copy number variants (CNVs) are an important type of human genome variation, which play a significant role in evolution contribute to population diversity and human genetic diseases. In recent years, next generation sequencing has become a valuable tool for clinical diagnostics and to provide sensitive and accurate approaches for detecting CNVs. In our previous work, we described a non-invasive prenatal test (NIPT) based on low-coverage massively parallel whole-genome sequencing of total plasma DNA for detection of CNV aberrations ≥600 kbp. We reanalyzed NIPT genomic data from 5018 patients to evaluate CNV aberrations in the Slovak population. Our analysis of autosomal chromosomes identified 225 maternal CNVs (47 deletions; 178 duplications) ranging from 600 to 7820 kbp. According to the ClinVar database, 137 CNVs (60.89%) were fully overlapping with previously annotated variants, 66 CNVs (29.33%) were in partial overlap, and 22 CNVs (9.78%) did not overlap with any previously described variant. Identified variants were further classified with the AnnotSV method. In summary, we identified 129 likely benign variants, 13 variants of uncertain significance, and 83 likely pathogenic variants. In this study, we use NIPT as a valuable source of population specific data. Our results suggest the utility of genomic data from commercial CNV analysis test as background for a population study.

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“… 9 Therefore, cfDNA screening has been widely implemented in screening for fetal aneuploidy during early pregnancy in many countries. 10 …”

Section: Introductionmentioning

confidence: 99%

Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening

et al. 2021

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In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical practice guidelines in other countries that were searched systematically, and the guidelines aim to assist in decision making of healthcare providers providing prenatal care and to be used as a source for education and communication with pregnant women in Korea. This article delineates clinical practice guidelines specifically for maternal serum screening for fetal aneuploidy and cell-free DNA (cfDNA) screening. A total of 19 key questions (12 for maternal serum and 7 for cfDNA screening) were defined. The main recommendations are: 1) Pregnant women should be informed of common fetal aneuploidy that can be detected, risks for chromosomal abnormality according to the maternal age, detection rate and false positive rate for common fetal aneuploidy with each screening test, limitations, as well as the benefits and risks of invasive diagnostic testing, 2) It is ideal to give counseling about prenatal aneuploidy screening and diagnostic testing at the first prenatal visit, and counseling is recommended to be given early in pregnancy, 3) All pregnant women should be informed about maternal serum screening regardless of their age, 4) cfDNA screening can be used for the screening of trisomy 21, 18, 13 and sex-chromosome aneuploidy. It is not recommended for the screening

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Recent trends in prenatal genetic screening and testing

Cited by 52 publications

References 75 publications

Circulating Cell-Free Nucleic Acids: Main Characteristics and Clinical Application

Circulating Cell-Free Nucleic Acids: Main Characteristics and Clinical Application

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening

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